The gene EPAS1 encodes for the transcription factor endothelial PAS domain-containing protein 1, and is induced as oxygen levels fall. Commonly called hypoxia inducible factor 2A (HIF2a), this protein is involved in the induction of oxygen regulated genes, binding to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. An important cancer biomarker, HIF2a may also play a role in Tibetan high-altitude adaptation (Am J Hum Genet. 2015 Jul 2; 97(1): 54–66.) and mutations in the EPAS1 gene are associated with erythrocytosis familial type 4 [taken from NCBI Entrez Gene (Gene ID: 2034) and UniProtKB (Entry: Q99814)].
basic-helix-loop-helix-PAS protein MOP2•
class E basic helix-loop-helix protein 73•
HIF-1 alpha-like factor•
hypoxia-inducible factor 2 alpha•
hypoxia-inducible factor 2-alpha•
member of PAS protein 2•
PAS domain-containing protein 2•