Gene: EPHA3

Alternate names for this Gene: EK4|ETK|ETK1|HEK|HEK4|TYRO4

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. Two alternatively spliced transcript variants have been described for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p11.1

Description of this Gene: EPH receptor A3

Type of Gene: protein-coding

rs6771054 in EPHA3 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs7650184 in EPHA3 gene and Cleft upper lip PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

rs6551412 in EPHA3 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.