EPHA5: Ephrin Receptor A5 Gene
Key regulator of axon guidance, synaptic plasticity, and cancer progression
Gene Information Card
| Symbol | EPHA5 |
|---|---|
| Full Name | EPH receptor A5 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.1 |
| NCBI Gene ID | 2044 ncbi.nlm.nih.gov/gene/2044 |
| Ensembl ID | ENSG00000142453 |
| UniProt ID | P54756 |
| OMIM ID | 600004 |
| HGNC ID | 3390 |
| Aliases | EHK1, EHK-1, HEK7, EPH-5, EPH-like kinase 1 |
Description
EPHA5 encodes a member of the ephrin receptor subfamily of receptor tyrosine kinases. It binds ephrin-A ligands and is involved in axon guidance, cell migration, and synaptic plasticity. EPHA5 is implicated in neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EPHA5 hypermethylation leads to reduced expression, promoting tumor progression | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and altered expression contribute to metastasis | COSMIC |
| Neurodevelopmental disorders | Rare variants in EPHA5 associated with intellectual disability and autism | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 3.2 | Medium |
| Breast | 1.8 | Low |
| Colon | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| MCF7 (breast cancer) | 1.2 | Low expression |
| HCT116 (colorectal) | 2.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2561G>A (p.Arg854His) | Missense | 0.02% | Altered kinase activity |
| c.1123C>T (p.Arg375Trp) | Missense | 0.01% | Ligand binding domain |
| c.1846_1847insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in EPHA5 reduce receptor signaling, linked to tumor suppression loss.
Gain of Function (GOF)
Missense mutations in the kinase domain may enhance oncogenic signaling in some cancers.
Dominant Negative (DN)
Truncated EPHA5 variants can interfere with wild-type receptor function, disrupting axon guidance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin A signaling pathway (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
Protein Summary
EPHA5 is a 1037-amino-acid receptor tyrosine kinase with an extracellular ephrin-binding domain, a single transmembrane helix, and an intracellular tyrosine kinase domain. It mediates bidirectional signaling upon ephrin-A ligand binding, regulating cytoskeletal dynamics and cell adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA5 Knockout HEK293 Cell Line | EDJ-KQ2085 | Human | 2044 | Details Get a Quote |
| EPHA5 Knockout HeLa Cell Line | EDJ-KQ22178 | Human | 2044 | Details Get a Quote |
| EPHA5 Knockout A-549 Cell Line | EDJ-KQ61642 | Human | 2044 | Details Get a Quote |
| EPHA5 Knockout HCT 116 Cell Line | EDJ-KQ70124 | Human | 2044 | Details Get a Quote |
