EFNA2: Ephrin A2 Gene
Ephrin A2 (EFNA2) is a member of the ephrin family of ligands that bind Eph receptors, involved in cell adhesion, migration, and developmental patterning.
Gene Information Card
| Symbol | EFNA2 |
|---|---|
| Full Name | Ephrin A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 1943 ncbi.nlm.nih.gov/gene/1943 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O43921 |
| OMIM ID | 601534 |
| HGNC ID | 3222 |
| Aliases | EPLG6, LERK6, HEK7-L |
Description
EFNA2 encodes ephrin A2, a glycosylphosphatidylinositol (GPI)-anchored cell surface ligand that binds to EphA family receptors. It plays roles in axon guidance, cell migration, angiogenesis, and tumor progression. The gene is located on chromosome 19p13.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | EFNA2 overexpression promotes tumor cell migration and invasion via EphA receptor signaling | PubMed studies; COSMIC |
| Neurodevelopmental disorders | EFNA2 disruption affects axon guidance and neuronal migration | OMIM #601534; literature |
| Cardiovascular disease | EFNA2 modulates angiogenesis and vascular remodeling | Experimental models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate |
| MCF7 | 5.4 | Low |
| A549 | 7.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.200C>T | missense | <0.1% | Unknown |
| c.350G>A | missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • angiogenesis (GO:0001525) | • ephrin receptor signaling pathway (GO:0048011) |
| • plasma membrane (GO:0005886) |
Pathways
• Ephrin-Eph receptor signaling (Reactome R-HSA-3928662)
• Axon guidance (KEGG hsa04360)
• Signaling by GPI-anchored proteins
Protein Summary
Ephrin A2 is a 228-amino acid GPI-anchored protein that binds EphA receptors. It is involved in cell-cell communication, neuronal pathfinding, and vascular development. The protein is expressed in brain, heart, and kidney, and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNA2 Knockout HEK293 Cell Line | EDJ-KQ651 | Human | 1943 | Details Get a Quote |
| EFNA2 Knockout HCT 116 Cell Line | EDJ-KQ19146 | Human | 1943 | Details Get a Quote |
| EFNA2 Knockout HeLa Cell Line | EDJ-KQ53143 | Human | 1943 | Details Get a Quote |
| EFNA2 Knockout A-549 Cell Line | EDJ-KQ61616 | Human | 1943 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
