|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:HIF-2α
HIF2A
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:erythrocytosis
gptkb:pheochromocytoma
pulmonary hypertension
paraganglioma
adaptation to high altitude
|
|
gptkbp:degradedBy
|
gptkb:von_Hippel-Lindau_protein_(VHL)
|
|
gptkbp:discoveredBy
|
gptkb:Gregg_L._Semenza
|
|
gptkbp:encodes
|
Hypoxia-inducible factor 2-alpha
|
|
gptkbp:Entrez_Gene_ID
|
2034
ENSG00000116016
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
heart
endothelial cells
|
|
gptkbp:firstDescribed
|
1997
|
|
gptkbp:fullName
|
Endothelial PAS domain-containing protein 1
|
|
gptkbp:function
|
transcription factor activity
DNA-binding transcription factor activity
regulation of response to hypoxia
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
response to hypoxia
|
|
gptkbp:HGNC_ID
|
3373
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EPAS1
|
|
gptkbp:involvedIn
|
cell proliferation
angiogenesis
metabolic adaptation
|
|
gptkbp:length
|
870 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p21
|
|
gptkbp:mutationAssociatedWith
|
familial erythrocytosis type 4
|
|
gptkbp:OMIM
|
603349
|
|
gptkbp:orthologIn
|
gptkb:EPAS1
|
|
gptkbp:orthologInMouse
|
Epas1
|
|
gptkbp:partner
|
gptkb:ARNT
|
|
gptkbp:proteinFamily
|
bHLH-PAS domain
PAS domain family
|
|
gptkbp:regulates
|
gptkb:erythropoietin_gene
gptkb:vascular_endothelial_growth_factor_(VEGF)
oxygen-dependent degradation
genes involved in erythropoiesis
genes involved in oxygen homeostasis
prolyl hydroxylase domain proteins (PHDs)
|
|
gptkbp:speciesWithKnownVariants
|
Tibetan population
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
Q99814
|
|
gptkbp:variantContributesTo
|
high-altitude adaptation in Tibetans
|
|
gptkbp:variantOrigin
|
introgression from Denisovans
|
|
gptkbp:bfsParent
|
gptkb:ARNT
gptkb:hypoxia-inducible_factors_(HIFs)
|
|
gptkbp:bfsLayer
|
7
|