SEMA3A
Semaphorin 3A: A key regulator of axon guidance, immune modulation, and tumor suppression
Gene Information Card
| Symbol | SEMA3A |
|---|---|
| Full Name | Semaphorin 3A |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.11 |
| NCBI Gene ID | 10371 ncbi.nlm.nih.gov/gene/10371 |
| Ensembl ID | ENSG00000175221 |
| UniProt ID | Q14563 |
| OMIM ID | 603961 |
| HGNC ID | 10723 |
| Aliases | SEMA1, SEMAIII, SEMAD, coll-1, Hsema-I, Semaphorin-3A |
Description
SEMA3A encodes semaphorin 3A, a secreted member of the semaphorin family that binds to neuropilin-1 (NRP1) and plexin receptors. It functions primarily in axon guidance during neural development, but also plays critical roles in immune regulation, angiogenesis, and tumor suppression. SEMA3A signaling modulates cell migration, apoptosis, and vascular patterning.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Reduced SEMA3A expression may impair axonal integrity and synaptic plasticity, contributing to neurodegeneration. | ClinVar, NCBI Gene |
| Schizophrenia | Genetic variants in SEMA3A are associated with altered neuronal connectivity and increased disease risk. | OMIM, ClinVar |
| Colorectal cancer | Loss of SEMA3A expression promotes tumor angiogenesis and metastasis via dysregulated NRP1 signaling. | COSMIC, NCBI Gene |
| Breast cancer | SEMA3A downregulation correlates with poor prognosis and enhanced invasive capacity. | COSMIC, NCBI Gene |
| Prostate cancer | SEMA3A acts as a tumor suppressor; epigenetic silencing leads to progression. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
| Placenta | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 14.1 | Neuroblastoma cell line |
| HeLa | 5.2 | Cervical carcinoma |
| A549 | 3.8 | Lung carcinoma |
| MCF7 | 2.1 | Breast carcinoma |
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 significance; may affect receptor binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional semaphorin 3A, impairing axon guidance and tumor suppression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SEMA3A.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in SEMA3A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin interactions (Reactome: R-HSA-373755)
• Neuropilin-1 signaling (Reactome: R-HSA-373752)
• Axon guidance (KEGG: hsa04360)
• VEGF signaling (Reactome: R-HSA-194138)
Protein Summary
Semaphorin 3A is a secreted 771-amino acid glycoprotein (UniProt Q14563) that forms homodimers. It contains an N-terminal Sema domain, a PSI domain, and an immunoglobulin-like domain. The protein binds to neuropilin-1 (NRP1) and plexin A family members to transduce signals regulating cytoskeletal dynamics, cell migration, and apoptosis. It is widely expressed in neural, vascular, and immune tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA3A Knockout HEK293 Cell Line | EDJ-KQ7025 | Human | 10371 | Details Get a Quote |
| SEMA3A Knockout A-549 Cell Line | EDJ-KQ31768 | Human | 10371 | Details Get a Quote |
| SEMA3A Knockout HCT 116 Cell Line | EDJ-KQ31769 | Human | 10371 | Details Get a Quote |
| SEMA3A Knockout HeLa Cell Line | EDJ-KQ31770 | Human | 10371 | Details Get a Quote |
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