EPHA3: Ephrin Type-A Receptor 3
A key regulator of cell adhesion, migration, and development, implicated in cancer and genetic disorders.
Gene Information Card
| Symbol | EPHA3 |
|---|---|
| Full Name | EPH receptor A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p11.1 |
| NCBI Gene ID | 2042 ncbi.nlm.nih.gov/gene/2042 |
| Ensembl ID | ENSG00000144524 |
| UniProt ID | P29320 |
| OMIM ID | 179611 |
| HGNC ID | 3394 |
| Aliases | ETK1, HEK, HEK4, TYRO4 |
Description
EPHA3 (EPH receptor A3) is a member of the ephrin receptor subfamily of receptor tyrosine kinases. It binds ephrin-A ligands and is involved in contact-dependent cell signaling, regulating cell adhesion, migration, and tissue boundary formation during development. EPHA3 plays roles in axon guidance, angiogenesis, and cancer progression. Mutations and altered expression have been linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (lung, breast, colorectal, melanoma) | EPHA3 mutations or aberrant expression can promote tumor growth, invasion, and metastasis through altered ephrin signaling. | COSMIC, ClinVar, literature |
| Hereditary cancer predisposition | Germline loss-of-function variants in EPHA3 may increase susceptibility to certain malignancies. | ClinVar, OMIM |
| Developmental disorders | Rare EPHA3 variants have been associated with intellectual disability and congenital anomalies. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.3 | Low |
| Colon | 5.1 | Low |
| Skin | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | Embryonic kidney cell line |
| A549 | 9.4 | Lung carcinoma cell line |
| MCF7 | 7.2 | Breast cancer cell line |
| HCT116 | 6.8 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly291Arg | Missense | <0.1% | Likely loss-of-function; observed in lung cancer |
| p.Arg762* | Nonsense | <0.1% | Truncating; loss-of-function in colorectal cancer |
| p.Val530Met | Missense | <0.1% | Unknown significance; reported in melanoma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg762*) lead to truncated protein and reduced kinase activity, impairing ephrin signaling.
Gain of Function (GOF)
Rare missense variants (e.g., p.Gly291Arg) may enhance kinase activity in some cancers, but evidence is limited.
Dominant Negative (DN)
Some missense mutations in the ligand-binding domain can disrupt receptor dimerization and downstream signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin signaling pathway (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
EPHA3 encodes a 983-amino-acid receptor tyrosine kinase with an extracellular ephrin-binding domain, a transmembrane region, and an intracellular kinase domain. Upon binding ephrin-A ligands, EPHA3 autophosphorylates and initiates signaling cascades that regulate cytoskeletal dynamics, cell adhesion, and migration. The protein is critical for neural development, vascular patterning, and tissue homeostasis. Dysregulation of EPHA3 contributes to oncogenesis and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA3 Knockout HEK293 Cell Line | EDJ-KQ2076 | Human | 2042 | Details Get a Quote |
| EPHA3 Knockout HeLa Cell Line | EDJ-KQ53164 | Human | 2042 | Details Get a Quote |
| EPHA3 Knockout A-549 Cell Line | EDJ-KQ61641 | Human | 2042 | Details Get a Quote |
| EPHA3 Knockout HCT 116 Cell Line | EDJ-KQ70123 | Human | 2042 | Details Get a Quote |
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