EPAS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EPAS1 wild-type allele is located within 2p21-p16 and is approximately 93 kb in length. This allele, which encodes endothelial PAS domain-containing protein 1, is involved in the regulation of transcription in response to oxygen. Mutation of the gene is associated with familial erythrocytosis type 4.

**Synonyms:** - BHLHE73 - ECYT4 - Endothelial PAS Domain Protein 1 wt Allele - HIF-2-Alpha Gene - HIF2A - HLF - Hypoxia-Inducible Factor 2, Alpha Subunit Gene - Hypoxia-Inducible Factor-2 Alpha Subunit Gene - MOP2 - Member of PAS Superfamily 2 Gene - PASD2 - bHLHe73