EPAS1

E925672

EPAS1 is a human gene encoding a hypoxia-inducible transcription factor that plays a key role in adaptation to low-oxygen environments, notably implicated in high-altitude tolerance.

All labels observed (2)

Label Occurrences
EPAS1 canonical 1
HIF-2α 1

How this entity was disambiguated

Statements (50)

Predicate Object
instanceOf human gene
protein-coding gene
associatedWithDisease familial erythrocytosis
neuroendocrine tumors
paraganglioma
pheochromocytoma
pulmonary hypertension
associatedWithPopulation Andean high-altitude populations
Tibetan high-altitude populations
associatedWithTrait hemoglobin concentration regulation
high-altitude adaptation
bindsWith ARNT
biologicalProcess adaptation to hypoxia
regulation of erythropoietin production
regulation of gene expression in response to oxygen levels
regulation of vascular development
cellularComponent cytoplasm
nucleus
containsDomain PAS domain
basic helix-loop-helix domain
oxygen-dependent degradation domain
degradedUnderCondition normoxia
encodes endothelial PAS domain-containing protein 1
hypoxia-inducible transcription factor
expressedIn endothelial cells
heart tissue
kidney tissue
lung tissue
formsComplexWith HIF-2 transcription factor complex
hasAlternativeName HIF-2α
linked to: EPAS1

HIF2A
endothelial PAS domain protein 1
hasGeneSymbol EPAS1
locatedOnChromosome human chromosome 2
locatedOnChromosomeArm 2p
molecularFunction DNA-binding transcription factor activity
hypoxia-inducible factor activity
protein heterodimerization activity
organism Homo sapiens
participatesIn angiogenesis
cellular response to hypoxia
erythropoiesis regulation
transcriptional response to low oxygen levels
pathway HIF signaling pathway
VEGF signaling pathway
erythropoietin signaling regulation
regulatedBy prolyl hydroxylase domain proteins
von Hippel–Lindau protein
stabilizedUnderCondition hypoxia
undergoes positive selection in some high-altitude human populations

How these facts were elicited

Referenced by (2)

Full triples — surface form annotated when it differs from this entity's canonical label.

Denisovans associatedGene EPAS1
EPAS1 hasAlternativeName HIF-2α
linked to: EPAS1