EPHA2 Gene: Ephrin Receptor A2
Comprehensive genomic and functional overview of EPHA2, a receptor tyrosine kinase implicated in development, cataracts, and cancer.
Gene Information Card
| Symbol | EPHA2 |
|---|---|
| Full Name | EPH receptor A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 1969 ncbi.nlm.nih.gov/gene/1969 |
| Ensembl ID | ENSG00000142627 |
| UniProt ID | P29317 |
| OMIM ID | 176946 |
| HGNC ID | 3386 |
| Aliases | ECK, ARCC2, CTPA, CTPP1, CTRCT6 |
Description
EPHA2 (EPH receptor A2) encodes a member of the ephrin receptor subfamily of receptor tyrosine kinases. The protein is involved in developmental processes, cell migration, and angiogenesis. Mutations in EPHA2 are associated with age-related cataract, congenital cataract, and various cancers. The receptor binds ephrin-A ligands and mediates bidirectional signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related cataract | Loss-of-function mutations impair lens epithelial cell homeostasis | ClinVar, OMIM |
| Congenital cataract (CTRCT6) | Missense and nonsense mutations disrupt protein folding and signaling | OMIM, PubMed |
| Colorectal cancer | Overexpression and gain-of-function mutations promote tumor invasion | COSMIC, PubMed |
| Breast cancer | EPHA2 upregulation correlates with poor prognosis and metastasis | COSMIC, PubMed |
| Prostate cancer | EPHA2 signaling contributes to androgen-independent growth | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 28.5 | Medium |
| Kidney | 22.3 | Medium |
| Liver | 15.7 | Low |
| Breast | 12.1 | Low |
| Brain | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.2 | High expression in embryonic kidney cells |
| HeLa | 18.6 | Moderate expression in cervical cancer cells |
| MCF7 | 14.3 | Moderate expression in breast cancer cells |
| A549 | 22.1 | Moderate expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg721Gln | Missense | Rare | Impaired kinase activity; associated with cataract |
| p.Pro460Leu | Missense | Rare | Reduced cell surface expression; cataract risk |
| p.Gly391Arg | Missense | Rare | Dominant negative effect; congenital cataract |
| p.Thr940Ile | Missense | Somatic (cancer) | Gain-of-function; increased migration in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg721Gln, p.Pro460Leu) reduce kinase activity or surface expression, leading to cataract formation.
Gain of Function (GOF)
Somatic mutations (e.g., p.Thr940Ile) enhance kinase activity and promote cancer cell invasion.
Dominant Negative (DN)
p.Gly391Arg disrupts receptor dimerization and signaling, causing congenital cataract.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004714 – transmembrane receptor protein tyrosine kinase activity | • GO:0007169 – transmembrane receptor protein tyrosine kinase signaling pathway |
| • GO:0005886 – plasma membrane | • GO:0048011 – ephrin receptor signaling pathway |
| • GO:0001525 – angiogenesis | • GO:0007411 – axon guidance |
Pathways
• Ephrin A signaling pathway (Reactome: R-HSA-3928662)
• Ephrin receptor signaling (KEGG: hsa04360)
• Axon guidance (KEGG: hsa04360)
Protein Summary
EPHA2 is a 976-amino-acid receptor tyrosine kinase with an extracellular ephrin-binding domain, a transmembrane region, and an intracellular kinase domain. It is activated by ephrin-A ligands, leading to autophosphorylation and downstream signaling that regulates cell adhesion, migration, and survival. The protein is widely expressed in epithelial and endothelial tissues and plays roles in development and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA2 Knockout HEK293 Cell Line | EDC07552 | Human | 1969 | Details Get a Quote |
| EPHA2 Knockout A-549 Cell Line | EDJ-KQ18088 | Human | 1969 | Details Get a Quote |
| EPHA2 Knockout HCT 116 Cell Line | EDJ-KQ19157 | Human | 1969 | Details Get a Quote |
| EPHA2 Knockout HeLa Cell Line | EDJ-KQ18291 | Human | 1969 | Details Get a Quote |
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