EPHA4 Chromosome 2

EPH receptor A4
4 variants 4 Health Risk

Upload your DNA to see your personal genotypes for variants in EPHA4.

What This Gene Does
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Sterile alpha motif domain containing|EPH receptors"
Locus Type
gene with protein product
Location
2q36.1
Ensembl
ENSG00000116106
Associated Conditions (2)
atypical cerebral palsy
See cases
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS201040727 Health Risk Conflicting classifications of pathogenicity
RS201423814 Health Risk Conflicting classifications of pathogenicity
RS1553568456 Health Risk Likely pathogenic atypical cerebral palsy, atypical cerebral palsy
RS2469225427 Health Risk Likely pathogenic See cases, See cases
Sign Up to Analyze Your DNA Log In