EPHA10

Chr 1AD

EPH receptor A10

Also known as: DFNA88

NCBI Gene: 284656ENSG00000183317UniProt: Q5JZY3OMIM: 611123

The EPHA10 protein is a receptor tyrosine kinase that binds to ephrin-A ligands and mediates cell-cell communication regulating cell attachment and mobility in neuronal and epithelial cells. Mutations cause autosomal dominant deafness (DFNA88), though the association remains provisional. The gene shows tolerance to loss-of-function variants based on constraint metrics.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismADLOEUF 1.291 OMIM phenotype
Clinical Summary— EPHA10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 unique Pathogenic / Likely Pathogenic· 166 VUS of 216 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.29LOEUF
pLI 0.000
Z-score 0.07
OE 0.99 (0.77–1.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.91Z-score
OE missense 0.89 (0.83–0.96)
512 obs / 573.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.99 (0.77–1.29)
0≤0.351.4
Missense OE0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 40 / 40.5Missense obs/exp: 512 / 573.0Syn Z: 0.05
DN
0.6258th %ile
GOF
0.7126th %ile
LOF
0.3745th %ile

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.

GOFprediction above median
DNprediction above median

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

216 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS166
Likely Benign8
Benign2
5
Pathogenic
1
Likely Pathogenic
166
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
2
160
4
0
166
Likely Benign
0
3
1
4
8
Benign
0
2
0
0
2
Total2165114182

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EPHA10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Ephrin receptor A10 monoclonal antibodies and the derived chimeric antigen receptor T cells exert an antitumor response in mouse models of triple-negative breast cancer.
Cha JH et al.·J Biol Chem
2022Functional
A Novel Bispecific Antibody against Human CD3 and Ephrin Receptor A10 for Breast Cancer Therapy.
Taki S et al.·PLoS One
2015
EphA10 drives tumor progression and immune evasion by regulating the MAPK/ERK cascade in lung adenocarcinoma.
Zhao W et al.·Int Immunopharmacol
2022
Comprehensive analysis of Epha10 as a predictor of clinical prognosis and immune checkpoint therapy efficacy in non-small cell lung cancer.
Wang A et al.·Sci Rep
2024
Isoform expression patterns of EPHA10 protein mediate breast cancer progression by regulating the E-Cadherin and β-catenin complex.
Li Y et al.·Oncotarget
2017
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients