EPHA3

Chr 3

EPH receptor A3

Also known as: EK4, ETK, ETK1, HEK, HEK4, TYRO4

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. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtColorectal cancer
0
Active trials
31
Pubs (1 yr)
P/LP submissions
P/LP missense
0.53
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.000
Z-score 4.25
OE 0.36 (0.240.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.65Z-score
OE missense 0.92 (0.860.99)
503 obs / 545.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.240.53)
00.351.4
Missense OE?0.92 (0.860.99)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 18 / 50.6Missense obs/exp: 503 / 545.9Syn Z: -0.94

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →