SEMA4C
Semaphorin 4C: A transmembrane semaphorin involved in immune regulation and neural development
Gene Information Card
| Symbol | SEMA4C |
|---|---|
| Full Name | Semaphorin 4C |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 54910 ncbi.nlm.nih.gov/gene/54910 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q9C0C4 |
| OMIM ID | 608884 |
| HGNC ID | 10728 |
| Aliases | SEMAI, M-SEMAF, semaphorin-4C |
Description
SEMA4C encodes a member of the semaphorin family of proteins, characterized by an N-terminal Sema domain, a PSI domain, and a transmembrane domain. Semaphorin 4C functions as a transmembrane signaling molecule involved in immune cell regulation, axon guidance, and cell migration. It is expressed in lymphoid tissues and the nervous system, and has been implicated in cancer progression and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SEMA4C promotes tumor cell migration and invasion via Plexin-B2 signaling | PMID: 25605247 |
| Prostate cancer | SEMA4C upregulation correlates with metastasis and poor prognosis | PMID: 29255112 |
| Rheumatoid arthritis | SEMA4C expressed on synovial fibroblasts contributes to inflammatory cytokine production | PMID: 23836629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 6.5 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Transfected overexpression |
| Jurkat | 6.2 | T-cell line |
| MCF7 | 5.4 | Breast cancer cell line |
| PC3 | 7.1 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% in gnomAD | Unknown functional effect |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor binding | • neuropilin binding |
| • cell adhesion | • axon guidance |
| • immune response | • cell migration |
Pathways
• Semaphorin interactions (Reactome: R-HSA-373755)
• Plexin signaling (Reactome: R-HSA-373752)
• Axon guidance (KEGG: hsa04360)
Protein Summary
Semaphorin 4C is a transmembrane protein of 833 amino acids. It contains a Sema domain, a PSI domain, and a cytoplasmic tail. It binds to Plexin-B2 and Neuropilin-1/2 receptors to regulate cytoskeletal dynamics, cell migration, and immune cell activation. The protein is glycosylated and localized to the plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA4C Knockout HEK293 Cell Line | EDJ-KQ15221 | Human | 54910 | Details Get a Quote |
| SEMA4C Knockout A-549 Cell Line | EDJ-KQ45876 | Human | 54910 | Details Get a Quote |
| SEMA4C Knockout HCT 116 Cell Line | EDJ-KQ45877 | Human | 54910 | Details Get a Quote |
| SEMA4C Knockout HeLa Cell Line | EDJ-KQ45878 | Human | 54910 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
