TSPAN17
Tetraspanin 17: A Transmembrane Protein Involved in Cell Signaling and Cancer
Gene Information Card
| Symbol | TSPAN17 |
|---|---|
| Full Name | Tetraspanin 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q9BZJ0 |
| OMIM ID | 613140 |
| HGNC ID | 30768 |
| Aliases | TM4SF17, TSPAN-17 |
Description
TSPAN17 (tetraspanin 17) is a protein-coding gene belonging to the tetraspanin family, characterized by four transmembrane domains. Tetraspanins are involved in cell adhesion, migration, signal transduction, and membrane organization. TSPAN17 is implicated in cancer progression and other cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may promote tumor cell migration and invasion via modulation of integrin signaling and membrane microdomains. | COSMIC, NCBI Gene |
| Breast cancer | Upregulation of TSPAN17 correlates with poor prognosis and increased metastatic potential. | COSMIC, PubMed (via NCBI) |
| Lung cancer | Overexpression associated with enhanced cell proliferation and resistance to apoptosis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 5.9 | Low |
| Prostate | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| A549 (lung cancer) | 11.4 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
| HCT116 (colorectal) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.345C>T (p.Thr115Met) | Missense | <0.1% | Reported in COSMIC; no known disease association |
| c.456_457insA | Frameshift | <0.01% | Predicted loss-of-function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.456_457insA) likely result in truncated protein and loss of normal tetraspanin function.
Gain of Function (GOF)
No documented gain-of-function mutations for TSPAN17.
Dominant Negative (DN)
No evidence of dominant-negative effects for TSPAN17.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 (GO:0005886) | • GO:0016021 (GO:0016021) |
| • GO:0007155 (GO:0007155) | • GO:0007165 (GO:0007165) |
| • GO:0008285 (GO:0008285) |
Pathways
• Integrin signaling pathway
• Cell adhesion molecules (CAMs)
Protein Summary
TSPAN17 is a 4-transmembrane domain protein (tetraspanin) that localizes to the plasma membrane and intracellular vesicles. It interacts with integrins and other membrane proteins to regulate cell adhesion, migration, and signal transduction. Altered expression is observed in several cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPAN17 Knockout HEK293 Cell Line | EDJ-KQ8491 | Human | 26262 | Details Get a Quote |
| TSPAN17 Knockout A-549 Cell Line | EDJ-KQ33294 | Human | 26262 | Details Get a Quote |
| TSPAN17 Knockout HCT 116 Cell Line | EDJ-KQ34609 | Human | 26262 | Details Get a Quote |
| TSPAN17 Knockout HeLa Cell Line | EDJ-KQ34610 | Human | 26262 | Details Get a Quote |
