• Gene id: 2034

Gene Summary

• Gene Symbol: EPAS1   Gene   UCSC   Ensembl
• Aliases: ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
• Gene name: endothelial PAS domain protein 1
• Alternate names: endothelial PAS domain-containing protein 1, EPAS-1, HIF-1-alpha-like factor, HIF-1alpha-like factor, HIF-2-alpha, HIF2-alpha, PAS domain-containing protein 2, basic-helix-loop-helix-PAS protein MOP2, class E basic helix-loop-helix protein 73, hypoxia-inducible fa,
• Gene location: 2p21 (46297406: 46386696)     Exons: 17     NC_000002.12
• Gene summary(Entrez): This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in
• OMIM: 603349

Protein Summary

• Protein general information: Q99814  
  • Name: Endothelial PAS domain containing protein 1 (EPAS 1) (Basic helix loop helix PAS protein MOP2) (Class E basic helix loop helix protein 73) (bHLHe73) (HIF 1 alpha like factor) (HLF) (Hypoxia inducible factor 2 alpha) (HIF 2 alpha) (HIF2 alpha) (Member of P
  • Length: 870  
  • Mass: 96459
  • Tissue specificity: Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.
• Sequence:

  MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLAISFLRTHKLLSSVCS
  ENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMGLTQVELTGHSIFDFTHPCDHEEIRENLSLK
  NGSGFGKKSKDMSTERDFFMRMKCTVTNRGRTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIM
  CEPIQHPSHMDIPLDSKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
  QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTESLFKPHLMAMNSIFD
  SSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQNFEESSAYGKAILPPSQPWATELRSHSTQSE
  AGSLPAFTVPQAAAPGSTTPSATSSSSSCSTPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELD
  LETLAPYIPMDGEDFQLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
  HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTEFLGAAPLGPPVSPPH
  VSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQDLSGGDPPGGSTSHLMWKRMKNLRGGSCPL
  MPDKPLSANVPNDKFTQNPMRGLGHPLRHLPLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASR
  LLGPSFESYLLPELTRYDCEVNVPVLGSSTLLQGGDLLRALDQAT

• Structural information:
  • Protein Domains: (14..6-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (84..15-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (230..30-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (-)
  • Interpro: IPR011598  IPR014887  IPR021537  IPR036638  IPR001067   IPR001610  IPR000014  IPR035965  IPR013767  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R
  • PDBsum: 1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R
  • DIP: 32857
  • STRING: ENSP00000263734
• Other Databases: GeneCards:  EPAS1  Malacards:  EPAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0003677	DNA binding	IGI	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0042415	norepinephrine metabolic process	IEA	biological process
GO:0043129	surfactant homeostasis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IEA	biological process
GO:0048625	myoblast fate commitment	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001892	embryonic placenta development	IEA	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048469	cell maturation	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048625	myoblast fate commitment	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0035035	histone acetyltransferase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Congenital polycythemia	KEGG:H00236
Malignant paraganglioma	KEGG:H01510
Congenital polycythemia	KEGG:H00236
Pre-eclampsia	PMID:11159352
von Hippel-Lindau disease	PMID:22299048
lung non-small cell carcinoma	PMID:21812995
Pulmonary hypertension	PMID:18650473
Rheumatoid arthritis	PMID:12823854
Osteoarthritis	PMID:12823854
Polycythemia	PMID:25792003
Psoriasis	PMID:17495954
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R