EPHA3
Chr 3EPH receptor A3
Also known as: EK4, ETK, ETK1, HEK, HEK4, TYRO4
EPHA3 encodes a receptor tyrosine kinase that binds ephrin-A ligands and regulates cell-cell adhesion, cytoskeletal organization, and cell migration, with key roles in retinotectal neuronal mapping and neuromuscular circuit development. Currently, no established Mendelian diseases have been definitively linked to EPHA3 mutations in the clinical literature. The gene is involved in nervous system development and may have roles in cardiac development through regulation of epithelial-to-mesenchymal transition.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EPHA3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools