TMPRSS4 (Transmembrane Serine Protease 4) Gene
A type II transmembrane serine protease implicated in cancer invasion, metastasis, and epithelial-mesenchymal transition.
Gene Information Card
| Symbol | TMPRSS4 |
|---|---|
| Full Name | Transmembrane Serine Protease 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 56649 ncbi.nlm.nih.gov/gene/56649 |
| Ensembl ID | ENSG00000137648 |
| UniProt ID | Q9NRS4 |
| OMIM ID | 606881 |
| HGNC ID | 11878 |
| Aliases | CAPH2, MT-SP2, TMPRSS3 |
Description
TMPRSS4 encodes a type II transmembrane serine protease that is expressed on the cell surface. It is involved in proteolytic cascades that regulate ion channels, growth factors, and extracellular matrix remodeling. TMPRSS4 is frequently overexpressed in various solid tumors and promotes cancer cell invasion, metastasis, and epithelial-mesenchymal transition (EMT).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression enhances tumor invasion and metastasis via EMT induction and matrix degradation. | High expression in tumor tissues correlates with poor prognosis (multiple studies). |
| Pancreatic Cancer | Promotes cell migration and invasion through activation of pro-uPA and MMPs. | Upregulated in pancreatic cancer cell lines and tissues; functional assays show increased invasiveness. |
| Breast Cancer | Facilitates metastasis by modulating integrin signaling and EMT. | Expression correlates with aggressive subtypes and lymph node metastasis. |
| Lung Cancer | Supports tumor growth and metastasis via activation of growth factor signaling. | Overexpressed in non-small cell lung cancer; knockdown reduces invasion. |
| Gastric Cancer | Contributes to peritoneal dissemination and poor survival. | High expression in gastric cancer tissues associated with advanced stage. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 10.2 | Medium |
| Pancreas | 8.5 | Low |
| Lung | 6.1 | Low |
| Breast | 4.3 | Low |
| Stomach | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (Colon) | 15.3 | High expression |
| PANC-1 (Pancreas) | 12.7 | High expression |
| A549 (Lung) | 8.9 | Moderate expression |
| MCF7 (Breast) | 5.2 | Low expression |
| KATO III (Stomach) | 7.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1063G>A (p.Gly355Arg) | Missense | 0.01% (COSMIC) | Unknown; potential functional impact |
| c.1198C>T (p.Arg400Cys) | Missense | 0.005% (COSMIC) | Unknown; may affect protein stability |
| c.1324A>G (p.Ile442Val) | Missense | 0.002% (COSMIC) | Unknown; likely benign |
| c.1456G>A (p.Asp486Asn) | Missense | 0.001% (COSMIC) | Unknown; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for TMPRSS4.
Gain of Function (GOF)
Amplification or overexpression is common in cancers, but specific gain-of-function mutations are not documented.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • integral component of membrane | • cell surface |
| • extracellular matrix organization | • positive regulation of cell migration |
| • epithelial to mesenchymal transition |
Pathways
• Proteolysis and extracellular matrix remodeling
• Epithelial-mesenchymal transition (EMT)
• Integrin signaling
• uPA/uPAR system
Protein Summary
TMPRSS4 is a 437-amino acid type II transmembrane serine protease with a short cytoplasmic domain, a transmembrane region, and an extracellular domain containing a scavenger receptor cysteine-rich (SRCR) domain and a trypsin-like serine protease domain. It is synthesized as a zymogen and activated by cleavage. The protein localizes to the plasma membrane and is involved in pericellular proteolysis, activating growth factors and matrix-degrading enzymes. Overexpression in tumors enhances invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS4 Knockout HEK293 Cell Line | EDJ-KQ2086 | Human | 56649 | Details Get a Quote |
| TMPRSS4 Knockout HeLa Cell Line | EDJ-KQ56744 | Human | 56649 | Details Get a Quote |
| TMPRSS4 Knockout A-549 Cell Line | EDJ-KQ65248 | Human | 56649 | Details Get a Quote |
| TMPRSS4 Knockout HCT 116 Cell Line | EDJ-KQ73689 | Human | 56649 | Details Get a Quote |
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