SEMA7A (Semaphorin 7A, GPI Membrane Anchor)
A GPI-anchored semaphorin involved in immune regulation, neural development, and cancer progression.
Gene Information Card
| Symbol | SEMA7A |
|---|---|
| Full Name | Semaphorin 7A (GPI membrane anchor) |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 8482 ncbi.nlm.nih.gov/gene/8482 |
| Ensembl ID | ENSG00000138623 |
| UniProt ID | O75326 |
| OMIM ID | 607961 |
| HGNC ID | 10741 |
| Aliases | CD108, CD108 antigen, semaphorin 7A, Sema L, Sema K1 |
Description
SEMA7A encodes a glycosylphosphatidylinositol (GPI)-anchored semaphorin that functions in immune cell signaling, axon guidance, and cell migration. It binds to integrin receptors (e.g., ITGB1) and plexin C1 (PLXNC1). SEMA7A is implicated in inflammatory responses, neural development, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis (MS) | SEMA7A promotes T-cell activation and neuroinflammation via integrin binding | ClinVar, NCBI |
| Rheumatoid arthritis | Overexpression in synovial tissue enhances immune cell infiltration | NCBI, UniProt |
| Cancer (breast, lung, melanoma) | SEMA7A modulates tumor cell migration and angiogenesis | COSMIC, NCBI |
| Neurodevelopmental disorders | Rare variants affect axon guidance and synaptic plasticity | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Testis | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat (T-cell) | 18.7 | High expression |
| A549 (lung) | 9.5 | Medium expression |
| MCF7 (breast) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Altered integrin binding; uncertain significance |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Reduced GPI anchoring; reported in ClinVar |
| c.724_726del (p.Phe242del) | In-frame deletion | <0.01% | Loss of function; associated with neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense variants impairing GPI anchor attachment or integrin binding reduce SEMA7A-mediated cell adhesion and migration.
Gain of Function (GOF)
Overexpression or activating mutations (rare) enhance pro-inflammatory signaling and tumor invasiveness.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type protein function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor binding | • integrin binding |
| • cell adhesion | • axon guidance |
| • immune response | • cell migration |
Pathways
• Semaphorin interactions (Reactome R-HSA-373755)
• Integrin signaling (Reactome R-HSA-354192)
• Axon guidance (KEGG hsa04360)
Protein Summary
SEMA7A is a 666-amino-acid GPI-anchored semaphorin with an N-terminal Sema domain, a PSI domain, and an Ig-like domain. It is expressed on activated T cells, NK cells, and various tissues. Through binding to integrins and plexin C1, it regulates immune synapse formation, monocyte migration, and neuronal growth cone collapse. Its dysregulation contributes to autoimmune inflammation and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEMA7A Knockout HEK293 Cell Line | EDJ-KQ3684 | Human | 8482 | Details Get a Quote |
| SEMA7A Knockout A-549 Cell Line | EDJ-KQ25678 | Human | 8482 | Details Get a Quote |
| SEMA7A Knockout HCT 116 Cell Line | EDJ-KQ25679 | Human | 8482 | Details Get a Quote |
| SEMA7A Knockout HeLa Cell Line | EDJ-KQ25680 | Human | 8482 | Details Get a Quote |
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