EFNA4 Gene - Ephrin A4
Ephrin A4: A key ligand in Eph receptor signaling, involved in development and cancer
Gene Information Card
| Symbol | EFNA4 |
|---|---|
| Full Name | ephrin A4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 1945 ncbi.nlm.nih.gov/gene/1945 |
| Ensembl ID | ENSG00000143375 |
| UniProt ID | P52798 |
| OMIM ID | 601509 |
| HGNC ID | 3225 |
| Aliases | EPLG4, LERK4 |
Description
EFNA4 encodes ephrin A4, a glycosylphosphatidylinositol (GPI)-anchored ligand of the ephrin family. It binds Eph receptors (primarily EphA subfamily) and mediates cell-cell signaling critical for embryonic patterning, axon guidance, and angiogenesis. EFNA4 is implicated in tumor progression and metastasis through bidirectional signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of EFNA4 promotes tumor cell migration and invasion via EphA2 receptor activation | COSMIC; PMID: 24651015 |
| Colorectal cancer | EFNA4 upregulation correlates with poor prognosis and activates MAPK/ERK pathway | COSMIC; PMID: 28411379 |
| Gastric cancer | EFNA4 silencing reduces cell proliferation and induces apoptosis | COSMIC; PMID: 29393419 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.7 | Low |
| Breast | 4.2 | Low |
| Colon | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 10.8 | Moderate expression |
| A549 (lung cancer) | 7.4 | Low expression |
| HEK293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.218G>A (p.Arg73His) | Missense | <0.1% | Unknown functional impact; rare in population |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Predicted damaging by SIFT; not validated in disease |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EFNA4.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumor progression.
Dominant Negative (DN)
No dominant-negative mutations described for EFNA4.
View complete mutation data：
Gene Ontology (GO)
| • signaling receptor binding (GO:0005102) | • cell surface receptor signaling pathway (GO:0007169) |
| • axon guidance (GO:0007411) | • angiogenesis (GO:0001525) |
| • plasma membrane (GO:0005886) |
Pathways
• Ephrin-Eph receptor signaling (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• Signaling by GPI-anchored proteins (Reactome: R-HSA-162582)
Protein Summary
Ephrin A4 is a 203-amino acid GPI-anchored protein with an ephrin domain. It localizes to the plasma membrane and interacts with EphA receptors to initiate bidirectional signaling. The protein is involved in cell adhesion, migration, and tissue boundary formation. Post-translational modifications include GPI anchor addition and N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNA4 Knockout HEK293 Cell Line | EDJ-KQ1203 | Human | 1945 | Details Get a Quote |
| EFNA4 Knockout A-549 Cell Line | EDJ-KQ20513 | Human | 1945 | Details Get a Quote |
| EFNA4 Knockout HCT 116 Cell Line | EDJ-KQ20514 | Human | 1945 | Details Get a Quote |
| EFNA4 Knockout HeLa Cell Line | EDJ-KQ20515 | Human | 1945 | Details Get a Quote |
