SEMA3G
Semaphorin 3G: A Class 3 Semaphorin Involved in Axon Guidance and Angiogenesis
Gene Information Card
| Symbol | SEMA3G |
|---|---|
| Full Name | Semaphorin 3G |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 56920 ncbi.nlm.nih.gov/gene/56920 |
| Ensembl ID | ENSG00000163635 |
| UniProt ID | Q9NS98 |
| OMIM ID | 609298 |
| HGNC ID | 10725 |
| Aliases | Semaphorin-3G, Sema3G, coll-3 |
Description
SEMA3G encodes a member of the class 3 semaphorin family, which are secreted proteins involved in axon guidance, cell migration, and angiogenesis. The protein binds to neuropilin-2 and plexin-A1/A4 receptors, modulating vascular patterning and neuronal development. SEMA3G is also implicated in tumor suppression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | SEMA3G downregulation may promote tumor angiogenesis and metastasis via loss of anti-angiogenic signaling. | COSMIC, PubMed |
| Cardiovascular disease | SEMA3G regulates vascular smooth muscle cell migration and endothelial cell function; altered expression linked to atherosclerosis. | PubMed |
| Neurodevelopmental disorders | SEMA3G mutations or dysregulation may affect axon guidance, potentially contributing to neurological conditions. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Brain | 3.8 | Low |
| Lung | 6.1 | Medium |
| Liver | 1.2 | Not detected |
| Kidney | 4.5 | Low |
| Placenta | 8.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 12.3 | High expression |
| HEK293 | 2.1 | Low expression |
| A549 (lung cancer) | 4.7 | Medium expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.1% | Unknown functional impact; rare population variant |
| c.568C>T (p.Arg190Trp) | Missense | <0.1% | Predicted damaging; associated with altered receptor binding |
| c.1021_1023del (p.Phe341del) | In-frame deletion | <0.01% | Loss of function; reduced secretion |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense mutations impairing secretion or receptor binding lead to reduced semaphorin signaling.
Gain of Function (GOF)
Not well documented; no known activating mutations reported.
Dominant Negative (DN)
Truncated or misfolded SEMA3G may interfere with wild-type protein function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor binding | • axon guidance |
| • cell migration | • angiogenesis |
| • neuropilin binding | • extracellular region |
Pathways
• Semaphorin interactions
• Axon guidance
• VEGF signaling (crosstalk)
Protein Summary
SEMA3G is a secreted 85 kDa glycoprotein containing a Sema domain, a PSI domain, and an immunoglobulin-like domain. It functions as a chemorepellent for axons and inhibits endothelial cell migration and tube formation via neuropilin-2/plexin-A1/A4 complexes. The protein is highly expressed in placenta, heart, and lung, and is downregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA3G Knockout HEK293 Cell Line | EDJ-KQ15220 | Human | 56920 | Details Get a Quote |
| SEMA3G Knockout HCT 116 Cell Line | EDJ-KQ45875 | Human | 56920 | Details Get a Quote |
| SEMA3G Knockout HeLa Cell Line | EDJ-KQ56767 | Human | 56920 | Details Get a Quote |
| SEMA3G Knockout A-549 Cell Line | EDJ-KQ65269 | Human | 56920 | Details Get a Quote |
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