Gene: EPHA2

Alternate names for this Gene: ARCC2|CTPA|CTPP1|CTRCT6|ECK

Gene Summary: This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.13

Description of this Gene: EPH receptor A2

Type of Gene: protein-coding

rs137853199 in EPHA2 gene and CATARACT, POSTERIOR POLAR, 1 PMID 19005574 2008 The EPHA2 gene is associated with cataracts linked to chromosome 1p.

PMID 19306328 2009 Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

PMID 22570727 2012 Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.

PMID 19649315 2009 EPHA2 is associated with age-related cortical cataract in mice and humans.

PMID 24014202 2013 Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.

rs34192549 in EPHA2 gene and Squamous cell carcinoma of lung PMID 20360610 2010 EphA2 mutation in lung squamous cell carcinoma promotes increased cell survival, cell invasion, focal adhesions, and mammalian target of rapamycin activation.