hypoxia-inducible factor 2 alpha; endothelial PAS domain protein 1; EPAS-1; member of PAS protein 2; MOP2; HIF-2 alpha; HIF-1 alpha-like factor (HIF2A,HLF)

Function: - binds to hypoxia response element (HRE) of target gene promoters - regulates vascular endothelial growth factor (VEGF) expression - implicated in the development of blood vessels - may also play a role in the formation of the endothelium that gives rise to the blood brain barrier - potent activator of the Tie-2 tyrosine kinase expression Expression: - expressed in most tissues - highest levels in placenta, lung & heart - selectively expressed in endothelial cells Pharmacology: - target of belzutifan (Welireg) for treatment of cancers associated with von Hippel-Lindau disease

General

basic helix loop helix (bHLH) family transcription factor phosphoprotein

Properties

SIZE: MW = 96 kD entity length = 870 aa COMPARTMENT: cell nucleus CELL: endothelial cell MOTIF: DNA-binding motif SITE: 15-27 helix-loop-helix NAME: helix-loop-helix SITE: 28-68 FOR-BINDING-VIA: helix-loop-helix PAS domain {84-154} PAS domain {230-300} PAC {304-347} serine residue {474-480} (7) NTAD {496-542} CTAD {830-870} MOTIF: Thr phosphorylation site {T840}

Database Correlations

OMIM 603349 UniProt Q99814 PFAM correlations

References

UniProt :accession Q16665