EFNA1: Ephrin A1 - A Key Regulator in Cell Signaling and Cancer
Comprehensive gene card for EFNA1, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | EFNA1 |
|---|---|
| Full Name | Ephrin A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 1942 ncbi.nlm.nih.gov/gene/1942 |
| Ensembl ID | ENSG00000169242 |
| UniProt ID | P20827 |
| OMIM ID | 191164 |
| HGNC ID | 3221 |
| Aliases | B61, ECKLG, EFL1, EPLG1, LERK1, TNFAIP4 |
Description
EFNA1 (ephrin A1) is a member of the ephrin family of ligands that bind to Eph receptors. It is a glycosylphosphatidylinositol (GPI)-anchored membrane protein involved in cell adhesion, migration, angiogenesis, and tumor progression. EFNA1 is induced by tumor necrosis factor alpha (TNF-α) and plays a role in embryonic patterning and neural development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | EFNA1 overexpression promotes tumor angiogenesis and metastasis via EphA2 receptor activation. | PMID: 12446744, COSMIC |
| Hepatocellular carcinoma | EFNA1 upregulation correlates with poor prognosis and increased invasion. | PMID: 23429719 |
| Breast cancer | EFNA1/EphA2 signaling enhances cell migration and invasion. | PMID: 16951152 |
| Colorectal cancer | EFNA1 expression is associated with tumor stage and lymph node metastasis. | PMID: 19029980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Lung | 6.7 | Low |
| Breast | 5.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma |
| MCF7 | 9.4 | Breast cancer |
| A549 | 7.6 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon; effect unknown |
| c.205G>A (p.Gly69Ser) | missense | <0.1% | Reported in COSMIC; functional impact uncertain |
| c.328C>T (p.Arg110Trp) | missense | <0.1% | ClinVar: uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in EFNA1.
Gain of Function (GOF)
Overexpression and amplification are observed in multiple cancers, suggesting oncogenic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin-Eph receptor signaling (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• Signaling by GPI-anchored ephrins (Reactome: R-HSA-3928665)
Protein Summary
Ephrin-A1 is a GPI-anchored cell surface protein that binds preferentially to EphA2 and EphA4 receptors. It is involved in cell-cell communication, regulating cytoskeletal dynamics, cell migration, and angiogenesis. EFNA1 is frequently overexpressed in cancers and contributes to tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNA1 Knockout HEK293 Cell Line | EDJ-KQ650 | Human | 1942 | Details Get a Quote |
| EFNA1 Knockout A-549 Cell Line | EDJ-KQ19143 | Human | 1942 | Details Get a Quote |
| EFNA1 Knockout HCT 116 Cell Line | EDJ-KQ19144 | Human | 1942 | Details Get a Quote |
| EFNA1 Knockout HeLa Cell Line | EDJ-KQ19145 | Human | 1942 | Details Get a Quote |
