SEMA3E
Semaphorin 3E: A key regulator of neuronal development, immune function, and cancer metastasis
Gene Information Card
| Symbol | SEMA3E |
|---|---|
| Full Name | Semaphorin 3E |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.11 |
| NCBI Gene ID | 9723 ncbi.nlm.nih.gov/gene/9723 |
| Ensembl ID | ENSG00000170381 |
| UniProt ID | O15041 |
| OMIM ID | 608166 |
| HGNC ID | 10727 |
| Aliases | M-SEMAH, SEMAH, coll-5 |
Description
SEMA3E encodes a secreted semaphorin that binds to plexin D1 (PLXND1) to regulate axon guidance, cell migration, and angiogenesis. It plays critical roles in neuronal development, immune cell trafficking, and tumor progression. Dysregulation of SEMA3E is implicated in CHARGE syndrome, cancer metastasis, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| CHARGE syndrome | Loss-of-function mutations in SEMA3E disrupt neural crest cell migration, leading to coloboma, heart defects, choanal atresia, and other features. | OMIM #608166; PMID: 21258341 |
| Colorectal cancer | SEMA3E overexpression promotes metastasis via PLXND1 signaling and epithelial-mesenchymal transition. | PMID: 26921327 |
| Breast cancer | SEMA3E enhances invasive capacity through activation of PI3K/AKT pathway. | PMID: 25605247 |
| Melanoma | SEMA3E expression correlates with tumor progression and poor prognosis. | PMID: 22926525 |
| Rheumatoid arthritis | SEMA3E modulates immune cell infiltration and synovial inflammation. | PMID: 28467927 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Heart | 5.1 | Low |
| Placenta | 4.9 | Low |
| Testis | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| MCF7 | 7.4 | Low expression |
| A549 | 6.1 | Low expression |
| HUVEC | 4.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1582C>T (p.Arg528*) | Nonsense | Rare | Loss of function; associated with CHARGE syndrome |
| c.2026G>A (p.Gly676Arg) | Missense | Rare | Impaired PLXND1 binding; reduced signaling |
| c.1234_1235del (p.Lys412fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in SEMA3E lead to truncated proteins or nonsense-mediated decay, resulting in haploinsufficiency and CHARGE syndrome.
Gain of Function (GOF)
Overexpression of wild-type SEMA3E in cancers (e.g., colorectal, breast) promotes metastasis via PLXND1 signaling.
Dominant Negative (DN)
Not reported for SEMA3E.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin interactions (Reactome: R-HSA-373755)
• Plexin signaling (Reactome: R-HSA-373752)
• Axon guidance (KEGG: hsa04360)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Semaphorin 3E is a secreted protein of the semaphorin family, characterized by a Sema domain, PSI domain, and immunoglobulin-like domain. It binds specifically to plexin D1 (PLXND1) to activate downstream signaling cascades, including Rho GTPases and PI3K/AKT. SEMA3E is involved in repulsive axon guidance, vascular patterning, and immune cell migration. In cancer, it can act as a pro-metastatic factor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA3E Knockout HEK293 Cell Line | EDJ-KQ6712 | Human | 9723 | Details Get a Quote |
| SEMA3E Knockout HCT 116 Cell Line | EDJ-KQ31078 | Human | 9723 | Details Get a Quote |
| SEMA3E Knockout A-549 Cell Line | EDJ-KQ29726 | Human | 9723 | Details Get a Quote |
| SEMA3E Knockout HeLa Cell Line | EDJ-KQ55238 | Human | 9723 | Details Get a Quote |
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