EPHA4 Chromosome 2
EPH receptor A4
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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 |