PLXNA3
Plexin A3: A Semaphorin Receptor in Axon Guidance and Immune Regulation
Gene Information Card
| Symbol | PLXNA3 |
|---|---|
| Full Name | Plexin A3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 55558 ncbi.nlm.nih.gov/gene/55558 |
| Ensembl ID | ENSG00000130827 |
| UniProt ID | P51805 |
| OMIM ID | 300022 |
| HGNC ID | 9101 |
| Aliases | PLXN3, Plexin-3, SEX |
Description
PLXNA3 encodes plexin A3, a transmembrane receptor for class 3 semaphorins. It plays critical roles in axon guidance, neuronal development, and immune cell migration. The gene is located on the X chromosome and is associated with X-linked disorders and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in PLXNA3 disrupt semaphorin signaling, impairing neuronal connectivity | ClinVar, OMIM |
| Breast cancer | Overexpression of PLXNA3 promotes tumor cell invasion and metastasis via semaphorin-3F signaling | COSMIC, PubMed |
| Prostate cancer | PLXNA3 upregulation correlates with poor prognosis and enhanced cell migration | COSMIC, PubMed |
| Lung cancer | Altered PLXNA3 expression contributes to tumor angiogenesis and metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Prostate | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| PC3 (prostate cancer) | 11.8 | Moderate expression |
| A549 (lung cancer) | 9.5 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 18.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with X-linked intellectual disability |
| c.1567G>A (p.Gly523Arg) | Missense | 0.2% | Reduced semaphorin binding; potential gain of function in cancer |
| c.2105_2106insA | Frameshift | <0.1% | Loss of function; reported in neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PLXNA3 lead to truncated or non-functional protein, impairing semaphorin signaling and causing neurodevelopmental defects.
Gain of Function (GOF)
Missense mutations such as p.Gly523Arg may enhance receptor activity, promoting tumor cell invasion and metastasis.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PLXNA3.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/55558 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PLXNA3
Gene Ontology (GO)
| • semaphorin receptor activity | • axon guidance |
| • cell migration | • signal transduction |
| • nervous system development |
Pathways
• Semaphorin signaling
• Axon guidance
• Neuropilin-plexin signaling
Protein Summary
Plexin A3 is a 1871-amino acid transmembrane protein with an extracellular Sema domain, PSI domains, and an intracellular GTPase-activating protein (GAP) domain. It binds semaphorins (e.g., SEMA3F) and forms complexes with neuropilins to regulate cytoskeletal dynamics, cell adhesion, and migration. The protein is essential for neuronal circuit formation and immune cell trafficking.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLXNA3 Knockout HEK293 Cell Line | EDJ-KQ5487 | Human | 55558 | Details Get a Quote |
| PLXNA3 Knockout HCT 116 Cell Line | EDJ-KQ27463 | Human | 55558 | Details Get a Quote |
| PLXNA3 Knockout A-549 Cell Line | EDJ-KQ28712 | Human | 55558 | Details Get a Quote |
| PLXNA3 Knockout HeLa Cell Line | EDJ-KQ28713 | Human | 55558 | Details Get a Quote |
| Plxna3 Knockout SL4 Cell Line | EDJ-KZ407 | Mouse | 55558 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
