GeneID: 159



Names

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

Description:
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. Genetic variations in this gene have been associated with a reduction in haemoglobin levels in populations living at high altitudes, likely through their transcriptional regulation of erythropoietin or red blood cell production. Somatic EPAS1 variants have been detected in tumor tissue (pheochromocytomas and paragangliomas (PPGL)) in patients with sickle cell disease (SCD) likely in consequence to hypoxic stress. Germline gain-of-function variants in EPAS1 are associated with erythrocytosis familial type 4 [OMIM: 611783].

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

Comments:
N/A

Number of entries/variants: 2

IthaScore

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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
  3. Gemma White, Daisuke Nonaka, Teng-Teng Chung, Rebecca J Oakey, Louise Izatt, Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease, The Journal of Clinical Endocrinology & Metabolism, 108(12), 3302-3310, 2023 PubMed
Created on 2016-06-07 09:11:00, Last reviewed on 2023-11-21 10:40:58 (Show full history)


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