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