full name
endothelial PAS domain protein 1

synonyms
bHLHe73, ECYT4, HIF2A, HLF, MOP2, PASD2, EPAS1, ENSG00000116016

HGNC
HGNC:3374

Entrez Gene
Gene:2034

ENSEMBL
ENSG00000116016

location
chr: 2
start: 46524541
stop: 46613842
strand: +

OMIM
OMIM:603349: EPAS1 (Autosomal dominant inheritance)
OMIM:611783: Erythrocytosis, familial, 4

transcripts
NM_001430.4

pathways
Cellular response to hypoxia [NCBI:1270415] [REACTOME:R-HSA-2262749] [PUBMED:15304631]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
HIF-2-alpha transcription factor network [NCBI:137956] [Pathway Interaction Database:hif2pathway] [PUBMED:10671489] [PUBMED:11983697] [PUBMED:11823643] [PUBMED:15039136] [PUBMED:19352007] [PUBMED:18356544] [PUBMED:17097563] [PUBMED:16740701] [PUBMED:19541651] [PUBMED:17873906] [PUBMED:12080085] [PUBMED:11292862] [PUBMED:16510872] [PUBMED:19498162] [PUBMED:10353251] [PUBMED:18625704] [PUBMED:15247232] [PUBMED:9079689] [PUBMED:19204094] [PUBMED:17322295] [PUBMED:17804822] [PUBMED:9113979] [PUBMED:12464608] [PUBMED:18434321] [PUBMED:15592504] [PUBMED:10878807] [PUBMED:17324924] [PUBMED:15192019] [PUBMED:9000051] [PUBMED:16611993] [PUBMED:10823831]
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha [NCBI:1270417] [REACTOME:R-HSA-1234162] [PUBMED:12080085] [PUBMED:14701857] [PUBMED:12042299] [PUBMED:11823643] [PUBMED:15239670]
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha [NCBI:1270418] [REACTOME:R-HSA-1234176] [PUBMED:15247232] [PUBMED:15474027] [PUBMED:12788921] [PUBMED:18184961] [PUBMED:12351678] [PUBMED:11292861] [PUBMED:17434750] [PUBMED:19208626] [PUBMED:12538644] [PUBMED:12615973] [PUBMED:11598268] [PUBMED:21335549] [PUBMED:12912907] [PUBMED:11292862]
PTK6 Expression [NCBI:1383026] [REACTOME:R-HSA-8849473] [PUBMED:23928995] [PUBMED:25019382]
Pathways in cancer [NCBI:83105] [KEGG:hsa05200] [PUBMED:12244301] [PUBMED:15156182] [PUBMED:16899407] [PUBMED:12621137] [PUBMED:21193867] [PUBMED:16001072] [PUBMED:11707511] [PUBMED:11253051] [PUBMED:11071626] [PUBMED:17251915] [PUBMED:11736900] [PUBMED:16557281] [PUBMED:16699851] [PUBMED:16189702] [PUBMED:11902573] [PUBMED:16555243] [PUBMED:8069858] [PUBMED:15310786] [PUBMED:9834202] [PUBMED:16700615] [PUBMED:12545153] [PUBMED:15656799] [PUBMED:12154354] [PUBMED:11895903] [PUBMED:11527574] [PUBMED:16326109] [PUBMED:16339096] [PUBMED:11160144] [PUBMED:15724144] [PUBMED:12951584] [PUBMED:10647931] [PUBMED:16881963] [PUBMED:15557758] [PUBMED:11477132] [PUBMED:15721476] [PUBMED:15625120] [PUBMED:16236521] [PUBMED:14967450] [PUBMED:15942304] [PUBMED:17287871] [PUBMED:14634372] [PUBMED:15573119] [PUBMED:15009714] [PUBMED:16112428] [PUBMED:15611513] [PUBMED:16001050] [PUBMED:15349822] [PUBMED:16551846] [PUBMED:15978322] [PUBMED:15774796] [PUBMED:16352814] [PUBMED:12951588] [PUBMED:10944551] [PUBMED:10740269] [PUBMED:15639402] [PUBMED:12407699] [PUBMED:11130178] [PUBMED:15109562] [PUBMED:11170304] [PUBMED:11276000] [PUBMED:9643506] [PUBMED:16248975] [PUBMED:16242838] [PUBMED:12946833] [PUBMED:11559746] [PUBMED:9196022] [PUBMED:12079267] [PUBMED:15468170] [PUBMED:16064138] [PUBMED:14580692] [PUBMED:15082523] [PUBMED:15551095] [PUBMED:17062879] [PUBMED:17211469] [PUBMED:11720739] [PUBMED:12588368] [PUBMED:11057895] [PUBMED:9422516] [PUBMED:12894244] [PUBMED:15479695] [PUBMED:16189154] [PUBMED:12878745] [PUBMED:11900250] [PUBMED:11103787] [PUBMED:15122209] [PUBMED:12711111] [PUBMED:12243753] [PUBMED:16306523] [PUBMED:16702400] [PUBMED:15270885] [PUBMED:14685170] [PUBMED:14586404] [PUBMED:11078609] [PUBMED:15284264] [PUBMED:10505543] [PUBMED:11223406] [PUBMED:14982876] [PUBMED:12648469] [PUBMED:12867060] [PUBMED:15711891] [PUBMED:12094241] [PUBMED:16642045] [PUBMED:11463388] [PUBMED:12762887] [PUBMED:15746962] [PUBMED:15823750] [PUBMED:16750612] [PUBMED:16484590] [PUBMED:11459867] [PUBMED:16146838] [PUBMED:14556242] [PUBMED:15947972] [PUBMED:12563308] [PUBMED:16946003] [PUBMED:15948971] [PUBMED:11407945] [PUBMED:12737309] [PUBMED:16095998] [PUBMED:12351585] [PUBMED:24508914] [PUBMED:12084351] [PUBMED:11807782] [PUBMED:14695152] [PUBMED:10453277] [PUBMED:17554387] [PUBMED:15841168] [PUBMED:12616528] [PUBMED:10403855] [PUBMED:16054233] [PUBMED:16474624] [PUBMED:16822996] [PUBMED:17028294] [PUBMED:11224709] [PUBMED:11750244] [PUBMED:11905738] [PUBMED:15719031] [PUBMED:10843728] [PUBMED:16110317] [PUBMED:11721960] [PUBMED:12741677] [PUBMED:7585656] [PUBMED:12801837] [PUBMED:16551847] [PUBMED:12459728] [PUBMED:11431710] [PUBMED:12468433] [PUBMED:11165748] [PUBMED:16042571] [PUBMED:16508724] [PUBMED:15000146] [PUBMED:17149381] [PUBMED:15948711] [PUBMED:14747944] [PUBMED:14737121] [PUBMED:12379883] [PUBMED:17158541] [PUBMED:12850530] [PUBMED:10835690] [PUBMED:16870043]
Regulation of Hypoxia-inducible Factor (HIF) by oxygen [NCBI:1270416] [REACTOME:R-HSA-1234174] [PUBMED:19704417] [PUBMED:20728359] [PUBMED:21335549] [PUBMED:19339544] [PUBMED:17916722] [PUBMED:18498744] [PUBMED:16724055] [PUBMED:20965423]
Regulation of gene expression by Hypoxia-inducible Factor [NCBI:1270419] [REACTOME:R-HSA-1234158] [PUBMED:9000051] [PUBMED:11959990] [PUBMED:7539918] [PUBMED:18187047] [PUBMED:8663540] [PUBMED:10202154] [PUBMED:14668441] [PUBMED:11063749] [PUBMED:9840812] [PUBMED:11959977] [PUBMED:9632793] [PUBMED:19788888] [PUBMED:9822602]
Renal cell carcinoma [NCBI:83107] [KEGG:hsa05211] [PUBMED:12351585] [PUBMED:17211469] [PUBMED:16339096] [PUBMED:17287871] [PUBMED:14634372] [PUBMED:15611513] [PUBMED:14685170] [PUBMED:15122209]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by PTK6 [NCBI:1383025] [REACTOME:R-HSA-8848021] [PUBMED:15539407] [PUBMED:15572663] [PUBMED:25999240] [PUBMED:20929863] [PUBMED:23352614] [PUBMED:20554524] [PUBMED:23814047] [PUBMED:21205088] [PUBMED:18172307] [PUBMED:25897081] [PUBMED:18829532] [PUBMED:24788754] [PUBMED:25019382] [PUBMED:8940083] [PUBMED:19393627] [PUBMED:18719096] [PUBMED:22547065] [PUBMED:21847121] [PUBMED:19439179] [PUBMED:22231447] [PUBMED:25733683] [PUBMED:20606012] [PUBMED:18077133] [PUBMED:15471878] [PUBMED:20687930] [PUBMED:23928995] [PUBMED:16179349] [PUBMED:26247733] [PUBMED:11114724] [PUBMED:17483331] [PUBMED:22084245] [PUBMED:10913193]
Signaling events mediated by VEGFR1 and VEGFR2 [NCBI:137940] [Pathway Interaction Database:vegfr1_2_pathway] [PUBMED:9398617] [PUBMED:9405464] [PUBMED:11494124] [PUBMED:12963813] [PUBMED:11756651] [PUBMED:10744763] [PUBMED:15060076] [PUBMED:9600074] [PUBMED:10376603] [PUBMED:11425855] [PUBMED:16337972] [PUBMED:12154000] [PUBMED:11978735] [PUBMED:10692392] [PUBMED:16763158] [PUBMED:10361126] [PUBMED:10748121] [PUBMED:12598525] [PUBMED:15026417] [PUBMED:11948691] [PUBMED:16966330] [PUBMED:16835467] [PUBMED:10409677] [PUBMED:10908731] [PUBMED:8903320] [PUBMED:15962004] [PUBMED:16633338] [PUBMED:11387210] [PUBMED:16839566] [PUBMED:11312102] [PUBMED:10207622] [PUBMED:16787925] [PUBMED:12171920] [PUBMED:12509223] [PUBMED:16760434] [PUBMED:14724572] [PUBMED:11704645] [PUBMED:12821150] [PUBMED:12881528] [PUBMED:9790910] [PUBMED:10376602] [PUBMED:15247219] [PUBMED:11333271] [PUBMED:12214271] [PUBMED:9804796] [PUBMED:11986311] [PUBMED:9182576] [PUBMED:15217908] [PUBMED:10749680] [PUBMED:16763549]
Transcriptional regulation of pluripotent stem cells [NCBI:1270346] [REACTOME:R-HSA-452723] [PUBMED:17093407] [PUBMED:17204602] [PUBMED:17068183] [PUBMED:22394165] [PUBMED:19128516] [PUBMED:19604364] [PUBMED:23166394] [PUBMED:20300647] [PUBMED:22443931] [PUBMED:22909387] [PUBMED:16153702] [PUBMED:19480567] [PUBMED:18029452] [PUBMED:22122341] [PUBMED:16819296] [PUBMED:12923055] [PUBMED:19755485] [PUBMED:22083510] [PUBMED:17572666] [PUBMED:17183653] [PUBMED:16978057] [PUBMED:16846370] [PUBMED:18923680] [PUBMED:23306458] [PUBMED:15493035] [PUBMED:20207225] [PUBMED:18035408] [PUBMED:20027182] [PUBMED:15110706] [PUBMED:22463982] [PUBMED:21044011] [PUBMED:23248145]