EPHA6 (EPH Receptor A6)
Ephrin type-A receptor 6: a receptor tyrosine kinase involved in developmental processes and implicated in cancer and neurological disorders
Gene Information Card
| Symbol | EPHA6 |
|---|---|
| Full Name | EPH receptor A6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q11.2 |
| NCBI Gene ID | 285220 ncbi.nlm.nih.gov/gene/285220 |
| Ensembl ID | ENSG00000180229 |
| UniProt ID | Q9UF33 |
| OMIM ID | 608964 |
| HGNC ID | 3384 |
| Aliases | EHK-2, EPH receptor A6, EPH homology kinase-2, HEK12 |
Description
EPHA6 (EPH receptor A6) is a member of the ephrin receptor subfamily of receptor tyrosine kinases. It is involved in cell-cell signaling, particularly during nervous system development, axon guidance, and synaptic plasticity. EPHA6 binds ephrin-A ligands and mediates bidirectional signaling. Dysregulation of EPHA6 has been associated with various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EPHA6 overexpression may promote tumor progression via aberrant ephrin signaling | PMID: 25605248 |
| Colorectal cancer | EPHA6 mutations and altered expression linked to metastasis and poor prognosis | PMID: 27197149 |
| Neurodevelopmental disorders | EPHA6 variants implicated in autism spectrum disorder and intellectual disability | PMID: 27569545 |
| Epilepsy | Rare EPHA6 missense variants associated with familial epilepsy | PMID: 29300877 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 8.9 | Moderate expression |
| MCF7 (breast cancer) | 6.4 | Low expression |
| HCT116 (colorectal cancer) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152G>A (p.Gly718Arg) | Missense | 0.0002 | Likely damaging; reported in autism spectrum disorder |
| c.2870C>T (p.Pro957Leu) | Missense | 0.0001 | Uncertain significance; found in epilepsy |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.0001 | Loss-of-function; associated with neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in EPHA6 are predicted to cause loss of kinase activity or protein truncation, leading to impaired ephrin signaling.
Gain of Function (GOF)
Missense mutations in the kinase domain may result in constitutive activation of EPHA6, potentially contributing to oncogenic signaling.
Dominant Negative (DN)
Some missense variants in the ligand-binding domain may interfere with receptor dimerization, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004714 - transmembrane receptor protein tyrosine kinase activity | • GO:0005005 - ephrin receptor activity |
| • GO:0007169 - transmembrane receptor protein tyrosine kinase signaling pathway | • GO:0007411 - axon guidance |
| • GO:0045202 - synapse | • GO:0016021 - integral component of membrane |
Pathways
• Ephrin signaling pathway (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• EPH-ephrin mediated repulsion of cells (Reactome: R-HSA-3928665)
Protein Summary
EPHA6 is a single-pass type I membrane protein with an N-terminal ephrin ligand-binding domain, a cysteine-rich region, two fibronectin type III repeats, a transmembrane segment, and a cytoplasmic tyrosine kinase domain. It is predominantly expressed in the nervous system and plays roles in axon guidance, cell migration, and synaptic function. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA6 Knockout HEK293 Cell Line | EDJ-KQ5667 | Human | 285220 | Details Get a Quote |
| EPHA6 Knockout HeLa Cell Line | EDJ-KQ29019 | Human | 285220 | Details Get a Quote |
| EPHA6 Knockout A-549 Cell Line | EDJ-KQ67974 | Human | 285220 | Details Get a Quote |
| EPHA6 Knockout HCT 116 Cell Line | EDJ-KQ76350 | Human | 285220 | Details Get a Quote |
| EPHA6 Knockout HAP1 Cell Line | EDC08096 | Human | 285220 | Details Get a Quote |
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