|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:EPAS1
Endothelial PAS domain-containing protein 1
HIF2A
|
|
gptkbp:associatedWith
|
gptkb:pheochromocytoma
paraganglioma
hypoxia response
altitude adaptation
erythrocytosis, familial, 4
|
|
gptkbp:discoveredBy
|
Wang GL et al.
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
Hypoxia-inducible factor 2-alpha
|
|
gptkbp:Entrez_Gene_ID
|
2034
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
heart
endothelial cells
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
3373
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
603349 (EPAS1)
|
|
gptkbp:involvedIn
|
cell proliferation
angiogenesis
oxygen homeostasis
|
|
gptkbp:length
|
870 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p21-p16
|
|
gptkbp:molecularWeight
|
96 kDa
|
|
gptkbp:mutationAssociatedWith
|
tumorigenesis
familial erythrocytosis
|
|
gptkbp:OMIM
|
603349
|
|
gptkbp:orthologInMouse
|
Epas1
|
|
gptkbp:pathway
|
angiogenesis
erythropoiesis
response to hypoxia
HIF-1 signaling pathway
|
|
gptkbp:regulates
|
gptkb:erythropoietin_gene
gptkb:vascular_endothelial_growth_factor_(VEGF)
|
|
gptkbp:regulatoryElement
|
PAS domain
bHLH domain
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
Q99814
|
|
gptkbp:bfsParent
|
gptkb:Hypoxia-inducible_factor
|
|
gptkbp:bfsLayer
|
8
|