Gene: EPAS1

Alternate names for this Gene: ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73

Gene Summary: This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: endothelial PAS domain protein 1

Type of Gene: protein-coding

rs4953353 in EPAS1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs1868092 in EPAS1 gene and Dipstick assessment of hemoglobin concentration PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

rs137853036 in EPAS1 gene and Erythrocytosis, Familial, 4 PMID 22367913 2012 Two new mutations in the HIF2A gene associated with erythrocytosis.

PMID 18184961 2008 A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.

PMID 19208626 2009 Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

PMID 18378852 2008 Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

rs1868092 in EPAS1 gene and Finding of hemoglobin concentration PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

rs1868092 in EPAS1 gene and Hemoglobin concentration result PMID 20534544 2010 Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

rs372272284 in EPAS1 gene and Hemoglobin measurement PMID 30188897 2018 Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal.

rs11689011 in EPAS1 gene and P wave duration (observable entity) PMID 28794112 2017 Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

rs11125071 in EPAS1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10211665 in EPAS1 gene and Renal Cell Carcinoma PMID 21131975 2011 Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.

PMID 22010048 2012 A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.

PMID 21131975 2011 Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.

PMID 31231134 2019 Sex specific associations in genome wide association analysis of renal cell carcinoma.

PMID 28598434 2017 Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

PMID 25826619 2015 Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer.

PMID 21131975 2011 Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.