PLXNA4
Plexin A4: A Semaphorin Receptor Involved in Axon Guidance and Cancer
Gene Information Card
| Symbol | PLXNA4 |
|---|---|
| Full Name | plexin A4 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q32.3 |
| NCBI Gene ID | 91584 ncbi.nlm.nih.gov/gene/91584 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9HCM2 |
| OMIM ID | 604280 |
| HGNC ID | 9102 |
| Aliases | PLXN4, PLEXA4, PLXNA4A, PLXNA4B |
Description
PLXNA4 encodes plexin A4, a transmembrane receptor for class 3 semaphorins. It plays critical roles in axon guidance, neuronal development, and immune regulation. Alternative splicing yields isoforms with distinct functions. Dysregulation is implicated in cancer progression and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered semaphorin signaling promotes tumor growth and metastasis | COSMIC, ClinVar |
| Neurodevelopmental disorders | Disrupted axon guidance due to PLXNA4 mutations | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 5.2 | Low |
| Kidney | 4.8 | Low |
| Testis | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal cell line |
| A549 | 6.7 | Lung cancer cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2450G>A (p.Arg817His) | Missense | <0.1% | Unknown functional impact |
| c.3121C>T (p.Arg1041*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg1041*) lead to truncated protein and loss of semaphorin signaling.
Gain of Function (GOF)
Not well documented; some missense variants may enhance signaling.
Dominant Negative (DN)
Not reported for PLXNA4.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor activity | • axon guidance |
| • cell migration | • signal transduction |
Pathways
• Semaphorin interactions
• Axon guidance
Protein Summary
Plexin A4 is a 1,894-amino acid transmembrane protein with a Sema domain, PSI domains, and a cytoplasmic GTPase-activating protein (GAP) domain. It binds semaphorin 3A/3F and modulates cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLXNA4 Knockout HEK293 Cell Line | EDJ-KQ10750 | Human | 91584 | Details Get a Quote |
| PLXNA4 Knockout HeLa Cell Line | EDJ-KQ57806 | Human | 91584 | Details Get a Quote |
| PLXNA4 Knockout A-549 Cell Line | EDJ-KQ66301 | Human | 91584 | Details Get a Quote |
| PLXNA4 Knockout HCT 116 Cell Line | EDJ-KQ74723 | Human | 91584 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
