EPAS1

EPAS1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1P97, 2A24, 3F1N, 3F1O, 3F1P, 3H7W, 3H82, 4GHI, 4GS9, 4PKY, 4XT2
Identifiers
Aliases	EPAS1, ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73, endothelial PAS domain protein 1, Hypoxia-inducible factor-2alpha
External IDs	OMIM: 603349 MGI: 109169 HomoloGene: 1095 GeneCards: EPAS1
Gene location (Human)
Chr.	Chromosome 2 (human)
End	46,386,697 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	87,140,838 bp
RNA expression pattern
	Top expressed in
	right lung; ; lower lobe of lung; ; placenta; ; visceral pleura; ; upper lobe of lung; ; upper lobe of left lung; ; saphenous vein; ; superficial temporal artery; ; pericardium; ; vena cava;
	Top expressed in
	right lung lobe; ; retinal pigment epithelium; ; carotid body; ; left lung lobe; ; ciliary body; ; digastric muscle; ; conjunctival fornix; ; aortic valve; ; sternocleidomastoid muscle; ; temporal muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; protein dimerization activity; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; protein binding; histone acetyltransferase binding; protein heterodimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; cytosol; nuclear speck; transcription regulator complex; nucleoplasm; nucleus;
Biological process	surfactant homeostasis; cell differentiation; response to hypoxia; regulation of transcription, DNA-templated; regulation of transcription from RNA polymerase II promoter in response to oxidative stress; lung development; norepinephrine metabolic process; iron ion homeostasis; mitochondrion organization; embryonic placenta development; cell maturation; response to oxidative stress; transcription, DNA-templated; regulation of heart rate; multicellular organism development; blood vessel remodeling; myoblast fate commitment; angiogenesis; regulation of transcription from RNA polymerase II promoter in response to hypoxia; erythrocyte differentiation; signal transduction; visual perception; positive regulation of transcription by RNA polymerase II; cellular response to hypoxia; transcription by RNA polymerase II; post-translational protein modification; hemopoiesis; regulation of transcription by RNA polymerase II; positive regulation of cold-induced thermogenesis; protein ubiquitination;
	Sources:Amigo / QuickGO
Orthologs
	2034
	13819
	ENSG00000116016
	ENSMUSG00000024140
	Q99814
	P97481
	NM_001430
	NM_010137
	NP_001421
	NP_034267
	Wikidata
View/Edit Human	View/Edit Mouse

Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2α)) is a protein that is encoded by the EPAS1 gene in mammals. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration. The gene is active under hypoxic conditions. It is also important in the development of the heart, and for maintaining the catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors.

However, several characterized alleles of EPAS1 contribute to high-altitude adaptation in humans. One such allele, which has been inherited from Denisovan archaic hominins, is known to confer increased athletic performance in some people, and has therefore been referred to as the "super athlete gene".

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