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.
Statements (50)
| Predicate | Object |
|---|---|
| instanceOf |
human gene
ⓘ
protein-coding gene ⓘ |
| associatedWithDisease |
familial erythrocytosis
ⓘ
neuroendocrine tumors ⓘ paraganglioma ⓘ pheochromocytoma ⓘ pulmonary hypertension ⓘ |
| associatedWithPopulation |
Andean high-altitude populations
NERFINISHED
ⓘ
Tibetan high-altitude populations ⓘ |
| associatedWithTrait |
hemoglobin concentration regulation
ⓘ
high-altitude adaptation ⓘ |
| bindsWith | ARNT NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
| hasAlternativeName |
HIF-2α
NERFINISHED
ⓘ
HIF2A NERFINISHED ⓘ endothelial PAS domain protein 1 NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
| stabilizedUnderCondition | hypoxia ⓘ |
| undergoes | positive selection in some high-altitude human populations ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.