EFNA5 (Ephrin A5) Gene
Ephrin A5: A Key Regulator in Axon Guidance, Angiogenesis, and Cancer
Gene Information Card
| Symbol | EFNA5 |
|---|---|
| Full Name | ephrin A5 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.3 |
| NCBI Gene ID | 1946 ncbi.nlm.nih.gov/gene/1946 |
| Ensembl ID | ENSG00000184349 |
| UniProt ID | P52803 |
| OMIM ID | 601535 |
| HGNC ID | 3225 |
| Aliases | EPLG7, LERK7, RAGS, AF-1 |
Description
EFNA5 (ephrin A5) is a member of the ephrin family of ligands that bind Eph receptors, mediating bidirectional signaling critical for developmental processes such as axon guidance, cell migration, and angiogenesis. It is also implicated in tumor progression and metastasis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered EFNA5 expression affects tumor angiogenesis and invasion via Eph receptor signaling. | COSMIC; PubMed studies |
| Neurodevelopmental disorders | EFNA5 guides retinal ganglion cell axons; mutations may disrupt topographic mapping. | OMIM; PubMed |
| Cardiovascular disease | EFNA5 regulates vascular development; dysregulation linked to pathological angiogenesis. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 15.3 | Neuroblastoma cell line |
| HUVEC | 7.8 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Altered receptor binding affinity |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% | Loss of function |
| c.789_790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Trp152*) lead to truncated protein lacking functional ephrin domain.
Gain of Function (GOF)
Not well documented; some missense variants may enhance receptor binding.
Dominant Negative (DN)
Not reported for EFNA5.
View complete mutation data：
Gene Ontology (GO)
| • ephrin receptor binding | • axon guidance |
| • cell-cell signaling | • angiogenesis |
| • cell migration |
Pathways
• Ephrin-Eph receptor signaling
• Axon guidance
• Angiogenesis
Protein Summary
Ephrin A5 is a GPI-anchored membrane protein that binds EphA receptors, particularly EphA3 and EphA5. It plays essential roles in axon pathfinding, synaptic plasticity, and vascular patterning. In cancer, EFNA5 can act as a tumor suppressor or oncogene depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNA5 Knockout HEK293 Cell Line | EDJ-KQ164 | Human | 1946 | Details Get a Quote |
| EFNA5 Knockout A-549 Cell Line | EDJ-KQ19147 | Human | 1946 | Details Get a Quote |
| EFNA5 Knockout HeLa Cell Line | EDJ-KQ19149 | Human | 1946 | Details Get a Quote |
| EFNA5 Knockout HCT 116 Cell Line | EDJ-KQ70103 | Human | 1946 | Details Get a Quote |
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