EFNA3 (Ephrin A3) Gene
Ephrin A3: A Key Regulator of Cell Adhesion, Migration, and Angiogenesis
Gene Information Card
| Symbol | EFNA3 |
|---|---|
| Full Name | Ephrin A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 1944 ncbi.nlm.nih.gov/gene/1944 |
| Ensembl ID | ENSG00000143546 |
| UniProt ID | P52797 |
| OMIM ID | 601636 |
| HGNC ID | 3222 |
| Aliases | EPLG3, EFL2, LERK3, Ehk1-L |
Description
EFNA3 encodes ephrin A3, a member of the ephrin family of ligands that bind Eph receptors. Ephrin A3 is a glycosylphosphatidylinositol (GPI)-anchored membrane protein involved in cell-cell signaling, regulating cell adhesion, migration, axon guidance, and angiogenesis. It plays roles in development and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | EFNA3 overexpression promotes tumor cell migration and invasion via EphA2 receptor activation. | PMID: 21804532 |
| Colorectal Cancer | EFNA3 upregulation correlates with poor prognosis and metastatic potential. | PMID: 25605248 |
| Glioblastoma | EFNA3 expression enhances glioma cell proliferation and angiogenesis. | PMID: 27641628 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 10.8 | Moderate expression |
| U87MG (glioblastoma) | 18.5 | High expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256G>A (p.Gly86Arg) | Missense | <0.1% | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
| c.602_603insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of ephrin signaling.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may mimic gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • angiogenesis (GO:0001525) | • Eph receptor signaling pathway (GO:0048011) |
| • plasma membrane (GO:0005886) |
Pathways
• Ephrin-Eph receptor signaling (Reactome: R-HSA-3928662)
• Ephrin A reverse signaling (Reactome: R-HSA-3928665)
• Axon guidance (KEGG: hsa04360)
Protein Summary
Ephrin A3 is a 238-amino acid GPI-anchored protein that binds EphA receptors (especially EphA2, EphA4, EphA5). It mediates bidirectional signaling: forward signaling through Eph receptors and reverse signaling via Src family kinases. EFNA3 is involved in developmental processes and is dysregulated in several cancers, where it promotes tumor progression and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNA3 Knockout HEK293 Cell Line | EDJ-KQ1202 | Human | 1944 | Details Get a Quote |
| EFNA3 Knockout A-549 Cell Line | EDJ-KQ19156 | Human | 1944 | Details Get a Quote |
| EFNA3 Knockout HCT 116 Cell Line | EDJ-KQ20511 | Human | 1944 | Details Get a Quote |
| EFNA3 Knockout HeLa Cell Line | EDJ-KQ20512 | Human | 1944 | Details Get a Quote |
