TSPAN4 (Tetraspanin 4) - Gene Overview and Clinical Significance
A comprehensive biomedical resource on TSPAN4, covering gene structure, expression, mutations, and disease associations.
Gene Information Card
| Symbol | TSPAN4 |
|---|---|
| Full Name | Tetraspanin 4 |
| Gene Type | protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 7106 ncbi.nlm.nih.gov/gene/7106 |
| Ensembl ID | ENSG00000167972 |
| UniProt ID | O14817 |
| OMIM ID | 602079 |
| HGNC ID | 11851 |
| Aliases | NBI-1, TETRASPANIN-4, TM4SF7, TSPAN-4 |
Description
TSPAN4 encodes tetraspanin 4, a member of the tetraspanin family of transmembrane proteins. Tetraspanins are involved in cell adhesion, motility, signaling, and membrane organization. TSPAN4 is widely expressed and has been implicated in cancer progression, particularly in promoting metastasis and chemoresistance. It also plays a role in platelet activation and immune responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | TSPAN4 overexpression enhances tumor cell migration, invasion, and metastasis through regulation of integrin signaling and matrix metalloproteinase activity. | COSMIC, PubMed (via NCBI) |
| Breast cancer | High TSPAN4 expression correlates with poor prognosis and increased metastatic potential. | COSMIC, PubMed |
| Gastric cancer | TSPAN4 promotes epithelial-mesenchymal transition (EMT) and contributes to peritoneal dissemination. | COSMIC, PubMed |
| Colorectal cancer | TSPAN4 is upregulated and associated with tumor progression and resistance to apoptosis. | COSMIC, PubMed |
| Platelet-related disorders | TSPAN4 is involved in platelet activation and thrombus formation, potentially affecting hemostasis. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.4 | Medium |
| Spleen | 10.1 | Medium |
| Bone marrow | 8.7 | Low |
| Liver | 6.2 | Low |
| Brain | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| A549 (lung cancer) | 11.8 | Moderate expression |
| HeLa (cervical cancer) | 9.2 | Low expression |
| K562 (leukemia) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511G>A (p.Ala171Thr) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.44C>T (p.Pro15Leu) | Missense | 0.005% | Unknown; predicted benign |
| c.123del (p.Gly42Valfs*19) | Frameshift | Rare | Loss of function; potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons may result in truncated non-functional protein, potentially affecting membrane organization and cell signaling.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression is more common in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of plasma membrane | • cell adhesion |
| • cell migration | • signal transduction |
| • protein binding | • identical protein binding |
Pathways
• Integrin signaling pathway
• Cell adhesion molecules (CAMs)
• Extracellular matrix organization
• TGF-beta signaling pathway (via EMT)
Protein Summary
Tetraspanin 4 is a four-pass transmembrane protein that organizes membrane microdomains by interacting with other tetraspanins and partner proteins. It regulates cell adhesion, motility, and signaling, and is implicated in cancer metastasis and platelet function. The protein is localized to the plasma membrane and endosomes, and its expression is often elevated in malignant tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPAN4 Knockout HEK293 Cell Line | EDJ-KQ12170 | Human | 7106 | Details Get a Quote |
| TSPAN4 Knockout HCT 116 Cell Line | EDJ-KQ39630 | Human | 7106 | Details Get a Quote |
| TSPAN4 Knockout A-549 Cell Line | EDJ-KQ40875 | Human | 7106 | Details Get a Quote |
| TSPAN4 Knockout HeLa Cell Line | EDJ-KQ40877 | Human | 7106 | Details Get a Quote |
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