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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPHA4
EPH receptor A4
Chromosome 2 · 2q36.1
NCBI Gene: 2043Ensembl: ENSG00000116106.12HGNC: HGNC:3388UniProt: E9PG71
130PubMed Papers
20Diseases
1Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinaseReceptor
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of amyloid-beta formationpositive regulation of cell population proliferationnegative regulation of cell migrationnegative regulation of epithelial to mesenchymal transitionmedullary thyroid gland carcinomaAbnormality of the skeletal systemhair colorneoplasm
✦AI Summary

EPHA4 (EPH receptor A4) is a receptor tyrosine kinase that binds membrane-bound ephrin ligands to mediate contact-dependent bidirectional signaling between adjacent cells 1. Uniquely promiscuous among Eph receptors, EPHA4 activates both GPI-anchored ephrin-A and transmembrane ephrin-B ligands, regulating cell morphology and adhesion through Rac, Rap, and Rho GTPase signaling. During nervous system development, EPHA4 controls axonal guidance and corticospinal projection establishment while regulating synaptic plasticity and dendritic spine morphogenesis 2. However, EPHA4 also inhibits axonal regeneration after injury, positioning it as a potential therapeutic target for promoting neuroregeneration 3. Pathologically, elevated EPHA4 expression correlates with multiple neuropsychiatric and neurodegenerative conditions. In major depressive disorder, EPHA4 upregulation in excitatory neurons drives demyelination and depression-like behaviors, with EphA4 inhibition preventing both phenotypes 4. In Alzheimer's disease, astrocytic EphA4 signaling mediates excitatory synapse elimination through complement-dependent mechanisms; astrocyte-specific EphA4 knockout ameliorates hippocampal synapse loss and cognitive decline 5. EPHA4 also promotes amyloid-β oligomer-induced synaptotoxicity via c-Abl activation 2. Additionally, EphA4 inhibition reduces vascular leak and endothelial dysfunction in sepsis 6, and EPHA4 is implicated in retinal neovascularization pathways 7. EPHA4/EPHA2 inhibitors show therapeutic potential in endometriosis and cancer 8.

Sources cited
1
EPHA4 locus organization in chromatin TADs and its role in limb development through gene-enhancer interactions
PMID: 25959774
2
EphA4 upregulation in excitatory neurons drives demyelination and depression-like behaviors; EphA4 knockdown reverses these effects
PMID: 35271507
3
Astrocytic EphA4 mediates excitatory synapse elimination through complement signaling in Alzheimer's disease
PMID: 39928878
4
Efna5-Epha4 pathway involvement in retinal neovascularization and Müller cell dysfunction
PMID: 39504047
5
EphA4 inhibition reduces vascular leak and endothelial dysfunction in sepsis-induced organ failure
PMID: 38657024
6
EphA4 obstructs axonal regeneration in neurodegenerative diseases and represents a therapeutic target for neurological disorders
PMID: 37477786
7
EphA4/c-Abl signaling axis mediates amyloid-β oligomer-induced dendritic spine elimination in Alzheimer's disease
PMID: 29378302
8
EPHA2/4 inhibitors decrease cell migration, invasion, and viability in endometriosis and cancer models
PMID: 38701119
Disease Associationsⓘ20
medullary thyroid gland carcinomaOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.48Moderate
hair colorOpen Targets
0.43Moderate
neoplasmOpen Targets
0.42Moderate
thyroid neoplasmOpen Targets
0.39Weak
non-small cell lung carcinomaOpen Targets
0.39Weak
thyroid carcinomaOpen Targets
0.37Weak
lung cancerOpen Targets
0.35Weak
thyroid cancerOpen Targets
0.34Weak
smoking initiationOpen Targets
0.33Weak
gastroesophageal reflux diseaseOpen Targets
0.30Weak
Sensorineural hearing impairmentOpen Targets
0.30Weak
restless legs syndromeOpen Targets
0.29Weak
pneumonitisOpen Targets
0.29Weak
Abnormality of the gastrointestinal tractOpen Targets
0.29Weak
psoriatic arthritisOpen Targets
0.28Weak
HypoventilationOpen Targets
0.27Weak
secondary malignant neoplasmOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.26Weak
JaundiceOpen Targets
0.23Weak
Pathogenic Variants2
NM_004438.5(EPHA4):c.1655_1656del (p.Ser552fs)Likely pathogenic
See cases
★☆☆☆2023→ Residue 552
NM_004438.5(EPHA4):c.2242G>A (p.Ala748Thr)Likely pathogenic
atypical cerebral palsy
★☆☆☆→ Residue 748
View on ClinVar ↗
Drug Targets1
VANDETANIBApproved
Ephrin receptor inhibitor
Related Genes
ADAM10Protein interaction100%EFNA2Protein interaction100%EPHB1Protein interaction100%EFNA3Protein interaction100%EFNA4Protein interaction100%EFNB1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Ovary
39%
Bone Marrow
31%
Lung
11%
Liver
3%
Gene Interaction Network
Click a node to explore
EPHA4ADAM10EFNA2EPHB1EFNA3EFNA4EFNB1
PROTEIN STRUCTURE
Preparing viewer…
PDB7OFV · 1.43 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.26]
RankingsWhere EPHA4 stands among ~20K protein-coding genes
  • #3,591of 20,598
    Most Researched130 · top quartile
  • #921of 1,025
    FDA-Approved Drug Targets1
  • #4,285of 5,498
    Most Pathogenic Variants2
  • #803of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedEPHA4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
PMID: 25959774
Cell · 2015
1.00
2
The Eph receptor A4 plays a role in demyelination and depression-related behavior.
PMID: 35271507
J Clin Invest · 2022
0.90
3
Astrocytic EphA4 signaling is important for the elimination of excitatory synapses in Alzheimer's disease.
PMID: 39928878
Proc Natl Acad Sci U S A · 2025
0.80
4
Single-Cell Multiomics Profiling Reveals Heterogeneity of Müller Cells in the Oxygen-Induced Retinopathy Model.
PMID: 39504047
Invest Ophthalmol Vis Sci · 2024
0.70
5
Inhibiting Eph/ephrin signaling reduces vascular leak and endothelial cell dysfunction in mice with sepsis.
PMID: 38657024
Sci Transl Med · 2024
0.60