SEMA3D
Semaphorin 3D: A secreted axon guidance molecule with roles in neural development and cancer
Gene Information Card
| Symbol | SEMA3D |
|---|---|
| Full Name | Semaphorin 3D |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.11 |
| NCBI Gene ID | 223117 ncbi.nlm.nih.gov/gene/223117 |
| Ensembl ID | ENSG00000153956 |
| UniProt ID | O95025 |
| OMIM ID | 609295 |
| HGNC ID | 10726 |
| Aliases | SEMA3D, collapsin-3D, sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D |
Description
SEMA3D encodes a member of the class 3 semaphorin family of secreted proteins. These proteins are involved in axon guidance, cell migration, and immune regulation. SEMA3D binds to neuropilin receptors and plexin co-receptors, mediating repulsive or attractive signals during neural development. It also plays roles in cardiovascular development and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SEMA3D can act as a tumor suppressor or promoter depending on context; altered expression affects angiogenesis and metastasis. | COSMIC, literature |
| Neural tube defects | Disruption of SEMA3D signaling may impair neural crest cell migration. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Lung | 2.1 | Low |
| Kidney | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.5 | Moderate expression |
| A549 (lung carcinoma) | 2.0 | Low expression |
| MCF7 (breast cancer) | 1.2 | Not detected |
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; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; truncation |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to result in 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)
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • cell differentiation (GO:0030154) | • axon extension involved in axon guidance (GO:0048846) |
| • protein binding (GO:0005515) |
Pathways
• Semaphorin interactions (Reactome: R-HSA-373755)
• Axon guidance (KEGG: hsa04360)
• Neuropilin-plexin signaling (Reactome: R-HSA-373752)
Protein Summary
SEMA3D is a secreted semaphorin of approximately 85 kDa. It contains an N-terminal Sema domain, a PSI domain, an immunoglobulin-like domain, and a basic C-terminal tail. The protein forms homodimers and binds to neuropilin-1/2 and plexin-A1/A2/A4 receptors. It functions primarily as a chemorepellent for growing axons and can modulate cell migration and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA3D Knockout HEK293 Cell Line | EDJ-KQ9146 | Human | 223117 | Details Get a Quote |
| SEMA3D Knockout HCT 116 Cell Line | EDJ-KQ35687 | Human | 223117 | Details Get a Quote |
| SEMA3D Knockout HeLa Cell Line | EDJ-KQ35688 | Human | 223117 | Details Get a Quote |
| SEMA3D Knockout A-549 Cell Line | EDJ-KQ67674 | Human | 223117 | Details Get a Quote |
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