EPHA7 (EPH Receptor A7) Gene
A key member of the Eph receptor tyrosine kinase family involved in nervous system development and cancer
Gene Information Card
| Symbol | EPHA7 |
|---|---|
| Full Name | EPH receptor A7 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q16.1 |
| NCBI Gene ID | 2045 ncbi.nlm.nih.gov/gene/2045 |
| Ensembl ID | ENSG00000135333 |
| UniProt ID | Q15375 |
| OMIM ID | 602190 |
| HGNC ID | 3387 |
| Aliases | EHK3, HEK11, EPH receptor A7 |
Description
EPHA7 (EPH receptor A7) is a member of the Eph receptor subfamily of receptor tyrosine kinases. It binds ephrin-A ligands and is involved in cell adhesion, migration, and axon guidance during development. EPHA7 plays roles in nervous system patterning, synaptic plasticity, and tumor suppression in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of EPHA7 expression via promoter methylation contributes to tumor progression | PMID: 19680221 |
| Gastric cancer | EPHA7 downregulation associated with poor prognosis and metastasis | PMID: 23233736 |
| Prostate cancer | EPHA7 acts as a tumor suppressor; reduced expression correlates with aggressive disease | PMID: 20010872 |
| Lung cancer | EPHA7 mutations and altered expression linked to tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 3.2 | Low |
| Colon | 1.8 | Low |
| Prostate | 2.1 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.6 | Embryonic kidney cell line |
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
| HCT116 | 2.1 | Colorectal carcinoma cell line |
| PC3 | 1.5 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated protein and loss of kinase activity, consistent with tumor suppressor role.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EPHA7.
Dominant Negative (DN)
Not described for EPHA7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin-Eph receptor signaling pathway
• Axon guidance
• Signaling by receptor tyrosine kinases
Protein Summary
EPHA7 is a 998-amino acid single-pass type I membrane protein with an N-terminal ephrin-binding domain, a cysteine-rich region, two fibronectin type III repeats, a transmembrane segment, and a cytoplasmic tyrosine kinase domain. It is glycosylated and localized to the plasma membrane. Upon binding ephrin-A ligands, EPHA7 autophosphorylates and initiates downstream signaling cascades regulating cytoskeletal dynamics and cell positioning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA7 Knockout HEK293 Cell Line | EDJ-KQ4537 | Human | 2045 | Details Get a Quote |
| EPHA7 Knockout HeLa Cell Line | EDJ-KQ27161 | Human | 2045 | Details Get a Quote |
| EPHA7 Knockout A-549 Cell Line | EDJ-KQ61643 | Human | 2045 | Details Get a Quote |
| EPHA7 Knockout HCT 116 Cell Line | EDJ-KQ70125 | Human | 2045 | Details Get a Quote |
