TM4SF5: Transmembrane 4 L Six Family Member 5
A tetraspanin-like protein implicated in cell proliferation, migration, and cancer progression
Gene Information Card
| Symbol | TM4SF5 |
|---|---|
| Full Name | Transmembrane 4 L Six Family Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 116987 ncbi.nlm.nih.gov/gene/116987 |
| Ensembl ID | ENSG00000142453 |
| UniProt ID | Q53EL6 |
| OMIM ID | 613857 |
| HGNC ID | 16159 |
| Aliases | L6H, TSPAN5, TM4SF5 |
Description
TM4SF5 (Transmembrane 4 L Six Family Member 5) is a protein-coding gene that belongs to the tetraspanin superfamily. The encoded protein is a transmembrane glycoprotein involved in cell proliferation, migration, and adhesion. TM4SF5 is overexpressed in various cancers, including hepatocellular carcinoma, and promotes tumor growth and metastasis through integrin and FAK signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of TM4SF5 enhances integrin-mediated signaling, leading to increased cell proliferation and migration. | PMID: 19029910; COSMIC gene analysis |
| Colorectal cancer | TM4SF5 upregulation correlates with poor prognosis and promotes epithelial-mesenchymal transition (EMT). | PMID: 25695676 |
| Gastric cancer | TM4SF5 expression is associated with tumor invasion and lymph node metastasis. | PMID: 23792583 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 3.2 | Low |
| Colon | 1.8 | Low |
| Stomach | 2.1 | Low |
| Lung | 1.5 | Low |
| Kidney | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line; moderate expression |
| HCT116 | 3.8 | Colorectal carcinoma cell line; moderate expression |
| MCF7 | 1.2 | Breast cancer cell line; low expression |
| A549 | 2.0 | Lung carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.1% in COSMIC | Unknown functional effect |
| c.341G>A (p.Arg114His) | Missense | <0.1% in COSMIC | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression is the primary oncogenic mechanism.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • cell adhesion (GO:0007155) |
| • positive regulation of cell proliferation (GO:0008284) | • cell migration (GO:0016477) |
| • platelet activation (GO:0030168) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-446388)
• FAK signaling (Reactome: R-HSA-446353)
• Cell-extracellular matrix interactions (Reactome: R-HSA-446353)
Protein Summary
The TM4SF5 protein is a 197-amino-acid transmembrane protein with four transmembrane domains, characteristic of the tetraspanin family. It localizes to the plasma membrane and interacts with integrins, promoting cell adhesion and migration. Overexpression of TM4SF5 in cancer cells leads to enhanced FAK phosphorylation and activation of downstream signaling cascades that drive proliferation and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM4SF5 Knockout HEK293 Cell Line | EDJ-KQ6439 | Human | 9032 | Details Get a Quote |
| TM4SF5 Knockout A-549 Cell Line | EDJ-KQ30503 | Human | 9032 | Details Get a Quote |
| TM4SF5 Knockout HeLa Cell Line | EDJ-KQ55059 | Human | 9032 | Details Get a Quote |
| TM4SF5 Knockout HCT 116 Cell Line | EDJ-KQ72009 | Human | 9032 | Details Get a Quote |
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