PLXNC1
Plexin C1: A Semaphorin Receptor Involved in Immune Regulation and Neural Development
Gene Information Card
| Symbol | PLXNC1 |
|---|---|
| Full Name | plexin C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 10154 ncbi.nlm.nih.gov/gene/10154 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | O60486 |
| OMIM ID | 604263 |
| HGNC ID | 9107 |
| Aliases | PLXN5, VESPR, CD232 |
Description
PLXNC1 encodes plexin C1, a transmembrane receptor for class 3 semaphorins, particularly SEMA3A and SEMA3B. It plays critical roles in axon guidance, immune cell migration, and tumor suppression. The gene is expressed in various tissues, including the nervous system and immune cells, and its dysregulation is linked to cancer and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PLXNC1 expression may promote tumor invasion and metastasis via altered semaphorin signaling. | COSMIC, NCBI Gene |
| Colorectal cancer | Reduced PLXNC1 expression correlates with poor prognosis and increased cell proliferation. | COSMIC, PubMed |
| Immune dysregulation | PLXNC1 mediates semaphorin-induced inhibition of T-cell and dendritic cell migration. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Spleen | 15.2 | Medium |
| Lymph node | 18.5 | Medium |
| Colon | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cells |
| Jurkat | 22.3 | T-cell leukemia line |
| HCT116 | 5.8 | Colorectal carcinoma line |
| MCF7 | 4.2 | Breast cancer line |
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, truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function, premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | 0.2% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional plexin C1, associated with reduced tumor suppression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor activity | • axon guidance |
| • immune response | • cell migration |
| • negative regulation of cell proliferation |
Pathways
• Semaphorin signaling
• Axon guidance
• Immune system signaling
Protein Summary
Plexin C1 is a 1,534-amino-acid transmembrane protein with an extracellular Sema domain, PSI domains, and an intracellular GTPase-activating protein (GAP) domain. It binds semaphorins to regulate cytoskeletal dynamics, cell adhesion, and migration. In the immune system, it modulates dendritic cell and T-cell functions. In cancer, loss of PLXNC1 expression is associated with increased invasiveness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLXNC1 Knockout HEK293 Cell Line | EDJ-KQ6922 | Human | 10154 | Details Get a Quote |
| PLXNC1 Knockout HeLa Cell Line | EDJ-KQ55329 | Human | 10154 | Details Get a Quote |
| PLXNC1 Knockout A-549 Cell Line | EDJ-KQ63811 | Human | 10154 | Details Get a Quote |
| PLXNC1 Knockout HCT 116 Cell Line | EDJ-KQ72272 | Human | 10154 | Details Get a Quote |
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