SEMA4F
Semaphorin 4F: A transmembrane semaphorin involved in immune regulation and neural development
Gene Information Card
| Symbol | SEMA4F |
|---|---|
| Full Name | Semaphorin 4F |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 10505 ncbi.nlm.nih.gov/gene/10505 |
| Ensembl ID | ENSG00000135622 |
| UniProt ID | Q9H3S1 |
| OMIM ID | 607292 |
| HGNC ID | 10728 |
| Aliases | SEMAF, SEMAM, SEMAW |
Description
SEMA4F (Semaphorin 4F) is a protein-coding gene that belongs to the semaphorin family. The encoded protein is a transmembrane semaphorin involved in immune cell regulation and neural development. It functions as a ligand for plexin receptors and modulates cell migration, axon guidance, and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SEMA4F expression may affect synaptic pruning and neural connectivity; genetic association studies suggest linkage | PMID: 21389179 |
| Bipolar disorder | Variants in SEMA4F have been implicated in genome-wide association studies for bipolar disorder | PMID: 21926972 |
| Cancer (various) | SEMA4F expression changes in tumors may influence angiogenesis and immune evasion | PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.2 | Medium |
| Testis | 18.7 | Medium |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Moderate expression |
| SH-SY5Y | 14.2 | Neuronal cell line |
| Jurkat | 20.1 | T-cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact |
| c.567G>A (p.Trp189*) | Nonsense | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp189*) likely result in truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor binding | • neuropilin binding |
| • cell adhesion | • axon guidance |
| • immune response |
Pathways
• Semaphorin interactions
• Plexin signaling
• Axon guidance
Protein Summary
Semaphorin 4F is a transmembrane protein of approximately 90 kDa. It contains an N-terminal Sema domain, a PSI domain, and an immunoglobulin-like domain. The protein is expressed on the cell surface and interacts with plexin receptors to regulate cytoskeletal dynamics, cell migration, and immune cell activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA4F Knockout HEK293 Cell Line | EDJ-KQ6443 | Human | 10505 | Details Get a Quote |
| SEMA4F Knockout A-549 Cell Line | EDJ-KQ31890 | Human | 10505 | Details Get a Quote |
| SEMA4F Knockout HCT 116 Cell Line | EDJ-KQ31891 | Human | 10505 | Details Get a Quote |
| SEMA4F Knockout HeLa Cell Line | EDJ-KQ31892 | Human | 10505 | Details Get a Quote |
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