SEMA4B
Semaphorin 4B: A transmembrane semaphorin involved in immune regulation and neural development
Gene Information Card
| Symbol | SEMA4B |
|---|---|
| Full Name | Semaphorin 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 10509 ncbi.nlm.nih.gov/gene/10509 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q9NPR2 |
| OMIM ID | 610105 |
| HGNC ID | 10729 |
| Aliases | Semaphorin-4B, Sema4B, SEMA4B1, SEMA4B2 |
Description
SEMA4B (Semaphorin 4B) is a member of the semaphorin family of proteins, characterized by a conserved Sema domain. It encodes a transmembrane protein that functions as a ligand for plexin receptors, playing roles in immune cell regulation, axon guidance, and cell migration. SEMA4B is involved in modulating immune responses, particularly in T-cell and dendritic cell function, and has been implicated in cancer progression and neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | SEMA4B overexpression promotes tumor cell proliferation and migration via plexin-B1 signaling | PMID: 25088254 |
| Schizophrenia | Genetic variants in SEMA4B associated with altered synaptic pruning and neurodevelopment | PMID: 26976432 |
| Rheumatoid arthritis | SEMA4B expression in synovial fibroblasts contributes to inflammatory cytokine production | PMID: 29127259 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Brain | 6.5 | Low |
| Kidney | 5.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| Jurkat (T-cell leukemia) | 9.4 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (gnomAD) | Altered plexin binding affinity |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.890A>G (p.Asn297Ser) | Missense | 0.05% | Reduced cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Trp189* leads to premature termination and loss of SEMA4B function.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance signaling.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin interactions (Reactome: R-HSA-373755)
• Plexin signaling (Reactome: R-HSA-373752)
• Axon guidance (KEGG: hsa04360)
Protein Summary
SEMA4B is a 772-amino acid transmembrane protein with an N-terminal Sema domain, a PSI domain, and an immunoglobulin-like domain. It functions as a receptor or ligand, binding to plexin-B family members to regulate cytoskeletal dynamics, cell migration, and immune responses. The protein is expressed in immune tissues, lung, and brain, and its dysregulation is linked to cancer and neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA4B Knockout HEK293 Cell Line | EDJ-KQ7069 | Human | 10509 | Details Get a Quote |
| SEMA4B Knockout A-549 Cell Line | EDJ-KQ31893 | Human | 10509 | Details Get a Quote |
| SEMA4B Knockout HCT 116 Cell Line | EDJ-KQ31894 | Human | 10509 | Details Get a Quote |
| SEMA4B Knockout HeLa Cell Line | EDJ-KQ31895 | Human | 10509 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
