GeneID: 159


Common Name: EPAS1 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_016000.1 (EPAS1)
HUGO Symbol: EPAS1 Full Name: endothelial PAS domain protein 1
Exons: 16 Introns: 15

Hypoxia-inducible factors (HIFs) play a crucial role in the adaptation of cells to low oxygen supply. HIF is composed of an oxygen-sensitive α-subunit and a constitutive β-subunit. The EPAS1 gene encodes the HIF-2α subunit, member to a family of three HIF-α isoforms. Under normoxic conditions the HIF-α subunit is hydroxylated by specific prolyl-hydroxylases and targeted for proteasomal degradation. In a hypoxic environment, the HIF-α subunit translocates to the nucleus, where it dimerizes with HIF-β to form a transcriptionally active HIF. HIFs upregulate expression of hypoxy-inducible genes involved in several pathways, including erythropoiesis, angiogenesis and metabolism. Polymoprhisms in this gene associated with reduced haemoglobin levels in populations living at high altitudes, likely through their transcriptional regulation of erythropoietin or red blood cell production. Mutations in this gene are associated with erythrocytosis familial type 4.

Synonyms: HLF , MOP2 , ECYT4 , HIF2A , PASD2 , bHLHe73


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Publications / Origin

  1. Loboda A, Jozkowicz A, Dulak J, HIF-1 and HIF-2 transcription factors--similar but not identical., Mol. Cells , 29(5), 435-42, 2010 PubMed
  2. van Patot MC, Gassmann M, Hypoxia: adapting to high altitude by mutating EPAS-1, the gene encoding HIF-2α., High Alt. Med. Biol. , 12(2), 157-67, 2011 PubMed
Created on 2016-06-07 09:11:00, Last reviewed on 2016-06-07 09:12:56 (Show full history)

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