EPHA8: Ephrin Receptor A8 – A Key Player in Cell Signaling and Development
Comprehensive genomic and proteomic overview of EPHA8, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | EPHA8 |
|---|---|
| Full Name | EPH receptor A8 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 2046 ncbi.nlm.nih.gov/gene/2046 |
| Ensembl ID | ENSG00000117616 |
| UniProt ID | P29322 |
| OMIM ID | 176945 |
| HGNC ID | 3427 |
| Aliases | EEK, EPH- and ELK-related kinase, HEK3 |
Description
EPHA8 (EPH receptor A8) is a member of the ephrin receptor subfamily of receptor tyrosine kinases. It binds ephrin-A ligands on adjacent cells, initiating bidirectional signaling that regulates cell adhesion, migration, and boundary formation during development. EPHA8 is involved in neural development, angiogenesis, and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulated EPHA8 signaling promotes tumor cell migration and invasion through aberrant activation of downstream pathways. | COSMIC, ClinVar |
| Neurodevelopmental disorders | EPHA8 mutations may disrupt axon guidance and synaptic plasticity, contributing to cognitive deficits. | OMIM, literature |
| Cardiovascular disease | Altered EPHA8 expression affects endothelial cell function and vascular remodeling. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 8.7 | Low |
| Kidney | 6.3 | Low |
| Liver | 2.1 | Not detected |
| Lung | 4.5 | Low |
| Placenta | 12.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 9.2 | Moderate expression in cervical cancer cells |
| SH-SY5Y | 22.1 | High expression in neuroblastoma cells |
| MCF7 | 3.4 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.02% | Altered ligand binding affinity |
| c.567_568del (p.Leu190fs) | Frameshift | 0.01% | Loss of kinase domain |
| c.2101C>T (p.Arg701Trp) | Missense | 0.03% | Impaired receptor dimerization |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain or disrupt ligand binding lead to loss of signaling activity.
Gain of Function (GOF)
Missense mutations in the kinase domain that increase autophosphorylation or constitutive activation are rare but reported in some cancers.
Dominant Negative (DN)
Truncated receptors lacking the kinase domain can dimerize with wild-type EPHA8 and inhibit downstream signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin A signaling pathway (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
EPHA8 is a 1005-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 undergoes autophosphorylation upon ligand binding and recruits SH2 domain-containing proteins to propagate signals. The protein is expressed predominantly in the brain and placenta, with lower levels in heart and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA8 Knockout HEK293 Cell Line | EDJ-KQ4539 | Human | 2046 | Details Get a Quote |
| EPHA8 Knockout HeLa Cell Line | EDJ-KQ53165 | Human | 2046 | Details Get a Quote |
| EPHA8 Knockout A-549 Cell Line | EDJ-KQ61644 | Human | 2046 | Details Get a Quote |
| EPHA8 Knockout HCT 116 Cell Line | EDJ-KQ70126 | Human | 2046 | Details Get a Quote |
