SEMA3C
Semaphorin 3C: A Guidance Cue in Neural, Cardiac, and Cancer Biology
Gene Information Card
| Symbol | SEMA3C |
|---|---|
| Full Name | Semaphorin 3C |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.11 |
| NCBI Gene ID | 10512 ncbi.nlm.nih.gov/gene/10512 |
| Ensembl ID | ENSG00000175221 |
| UniProt ID | Q99985 |
| OMIM ID | 602645 |
| HGNC ID | 10725 |
| Aliases | Semaphorin E, SEMA-E, CDM3, collapsin-3 |
Description
SEMA3C encodes a member of the class 3 semaphorin family of secreted proteins. These proteins function as axon guidance cues during neural development by binding to neuropilin/plexin receptor complexes. SEMA3C also plays critical roles in cardiac development, neural crest cell migration, and has been implicated in tumor progression and metastasis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | SEMA3C overexpression promotes tumor cell migration, invasion, and angiogenesis via neuropilin-1/2 and plexin signaling. | COSMIC; PubMed studies |
| Congenital heart disease | SEMA3C is required for cardiac neural crest migration and outflow tract septation; mutations or dysregulation contribute to defects. | OMIM 602645; PubMed |
| Schizophrenia | Genetic variants in SEMA3C have been associated with altered brain connectivity and increased risk. | ClinVar; PubMed |
| Alzheimer's disease | Dysregulated SEMA3C expression may contribute to synaptic dysfunction and neurodegeneration. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Placenta | 3.2 | Low |
| Testis | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| A549 (lung cancer) | 10.8 | Medium expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
| K562 (leukemia) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Alters receptor binding affinity; potential loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature truncation; loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well documented; overexpression in tumors may mimic gain-of-function.
Dominant Negative (DN)
Missense variants that disrupt receptor binding but retain dimerization capacity may act dominant-negatively.
View complete mutation data：
Gene Ontology (GO)
| • axon guidance | • semaphorin-plexin signaling pathway |
| • neural crest cell migration | • cardiac outflow tract morphogenesis |
| • cell migration | • angiogenesis |
| • neuropilin binding | • extracellular region |
Pathways
• Semaphorin interactions (Reactome R-HSA-373755)
• Axon guidance (KEGG hsa04360)
• Neuropilin-1/2 signaling (Reactome R-HSA-6794362)
Protein Summary
SEMA3C is a secreted 787-amino acid glycoprotein containing a Sema domain, a PSI domain, and an immunoglobulin-like domain. It forms homodimers and binds to neuropilin-1/2 and plexin A/B family receptors to transduce signals regulating cytoskeletal dynamics, cell adhesion, and migration. The protein is critical for neural circuit formation, heart development, and is frequently upregulated in aggressive cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA3C Knockout HEK293 Cell Line | EDJ-KQ7071 | Human | 10512 | Details Get a Quote |
| SEMA3C Knockout HCT 116 Cell Line | EDJ-KQ30512 | Human | 10512 | Details Get a Quote |
| SEMA3C Knockout A-549 Cell Line | EDJ-KQ31896 | Human | 10512 | Details Get a Quote |
| SEMA3C Knockout HeLa Cell Line | EDJ-KQ31897 | Human | 10512 | Details Get a Quote |
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