EPAS1 Gene

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Li, V. EPAS1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5371 (accessed on 21 September 2026).

Li V. EPAS1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5371. Accessed September 21, 2026.

Li, Vivi. "EPAS1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5371 (accessed September 21, 2026).

Li, V. (2020, December 24). EPAS1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5371

Li, Vivi. "EPAS1 Gene." Encyclopedia. Web. 24 December, 2020.

EPAS1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/epas1

Endothelial PAS domain protein 1

genes

References

Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, Knight J, Li C, Li JC, LiangY, McCormack M, Montgomery HE, Pan H, Robbins PA, Shianna KV, Tam SC, Tsering N, Veeramah KR, Wang W, Wangdui P, Weale ME, Xu Y, Xu Z, Yang L, Zaman MJ, Zeng C,Zhang L, Zhang X, Zhaxi P, Zheng YT. Natural selection on EPAS1 (HIF2alpha)associated with low hemoglobin concentration in Tibetan highlanders. Proc NatlAcad Sci U S A. 2010 Jun 22;107(25):11459-64. doi: 10.1073/pnas.1002443107.
Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR,Lee FS. Erythrocytosis-associated HIF-2alpha mutations demonstrate a criticalrole for residues C-terminal to the hydroxylacceptor proline. J Biol Chem. 2009Apr 3;284(14):9050-8. doi: 10.1074/jbc.M808737200.
Lee FS, Percy MJ. The HIF pathway and erythrocytosis. Annu Rev Pathol.2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review.
McMullin MF. HIF pathway mutations and erythrocytosis. Expert Rev Hematol.2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68. Review.
Percy MJ, Chung YJ, Harrison C, Mercieca J, Hoffbrand AV, Dinardo CL, SantosPC, Fonseca GH, Gualandro SF, Pereira AC, Lappin TR, McMullin MF, Lee FS. Two newmutations in the HIF2A gene associated with erythrocytosis. Am J Hematol. 2012Apr;87(4):439-42. doi: 10.1002/ajh.23123.
Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial andacquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54.doi: 10.1002/ajh.21313. Review.
Percy MJ. Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. Ulster Med J. 2008 May;77(2):86-8. Review.
Perrotta S, Della Ragione F. The HIF2A gene in familial erythrocytosis. N EnglJ Med. 2008 May 1;358(18):1966; author reply 1966-7.
Simonson TS, McClain DA, Jorde LB, Prchal JT. Genetic determinants of Tibetan high-altitude adaptation. Hum Genet. 2012 Apr;131(4):527-33. doi:10.1007/s00439-011-1109-3.
van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, LeeFS. Erythrocytosis associated with a novel missense mutation in the HIF2A gene.Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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