Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.

doi:10.1038/s41598-017-10117-3

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Article

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.

Scientific reports - 30 Aug 2017

Ma Xiaoyin, Ma Zhiwei, Jiao Xiaodong, Hejtmancik J Fielding

Abstract excerpt

To identify possible genetic variants influencing expression of EPHA2 (Ephrin-receptor Type-A2), a tyrosine kinase receptor that has been shown to be important for lens development and to contribute to both congenital and age related cataract when mutated, the extended promoter region of EPHA2 was screened for variants. SNP rs6603883 lies in a PAX2 binding site in the EPHA2 promoter region. The C (minor) allele...

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PMID: 28855599
DOI: 10.1038/s41598-017-10117-3
PMCID: PMC5577203

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EPHA2
PAX2

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