TMPRSS2 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the TMPRSS2 gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | TMPRSS2 |
|---|---|
| Full Name | Transmembrane Serine Protease 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 7113 ncbi.nlm.nih.gov/gene/7113 |
| Ensembl ID | ENSG00000184012 |
| UniProt ID | O15393 |
| OMIM ID | 602060 |
| HGNC ID | 11876 |
| Aliases | PRSS10, DMT1, PP9284 |
Description
TMPRSS2 encodes a type II transmembrane serine protease that belongs to the hepsin/TMPRSS subfamily. The protein is involved in various physiological processes, including prostate cancer progression and viral entry. It is highly expressed in the prostate epithelium and is regulated by androgens. TMPRSS2 is also known for its role in cleaving the SARS-CoV-2 spike protein, facilitating viral entry into host cells. Gene fusions involving TMPRSS2 and ERG are common in prostate cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | TMPRSS2-ERG gene fusion leads to overexpression of ERG oncogene, promoting tumorigenesis. TMPRSS2 expression is androgen-regulated, linking androgen signaling to cancer progression. | COSMIC, ClinVar, multiple studies |
| COVID-19 | TMPRSS2 cleaves the SARS-CoV-2 spike protein, enabling membrane fusion and viral entry into host cells. High expression in lung and other tissues contributes to susceptibility. | UniProt, NCBI, literature |
| Influenza | TMPRSS2 activates influenza virus hemagglutinin by proteolytic cleavage, essential for viral infectivity. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | High | nTPM: 1000+ (highest expression) |
| Lung | Moderate | nTPM: 50-100 |
| Colon | Low | nTPM: 10-50 |
| Liver | Low | nTPM: <10 |
| Kidney | Low | nTPM: <10 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP | High | Prostate cancer cell line, androgen-responsive |
| PC-3 | Low | Prostate cancer cell line, androgen-independent |
| A549 | Moderate | Lung carcinoma cell line |
| Caco-2 | Low | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TMPRSS2-ERG fusion | Structural variant | Common in prostate cancer (~50%) | Overexpression of ERG, drives oncogenesis |
| rs12329760 (V160M) | Missense | Population frequency ~10-20% | May affect protease activity; associated with COVID-19 severity in some studies |
| rs2070788 | Intronic | Population frequency ~30-40% | Associated with influenza susceptibility; may influence TMPRSS2 expression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TMPRSS2 are rare and may impair protease activity, potentially reducing viral entry but not clearly linked to disease.
Gain of Function (GOF)
Gain-of-function is primarily due to gene fusions (e.g., TMPRSS2-ERG) that lead to overexpression of oncogenic partners, not the TMPRSS2 protein itself.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TMPRSS2.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • integral component of membrane |
| • proteolysis | • viral entry into host cell |
| • androgen response |
Pathways
• Prostate cancer pathway (TMPRSS2-ERG fusion)
• Influenza virus entry
• SARS-CoV-2 infection
Protein Summary
TMPRSS2 is a 492-amino acid type II transmembrane serine protease with a short cytoplasmic domain, a transmembrane domain, and an extracellular region containing a scavenger receptor cysteine-rich domain and a serine protease domain. It is synthesized as a zymogen and activated by autocatalytic cleavage. The protein is anchored to the plasma membrane and can be shed into the extracellular space. It plays a role in prostate cancer progression and viral activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS2 Knockout HEK293 Cell Line | EDJ-KQ15856 | Human | 7113 | Details Get a Quote |
| TMPRSS2 Knockout HeLa Cell Line | EDJ-KQ17960 | Human | 7113 | Details Get a Quote |
| TMPRSS2 Knockout A-549 Cell Line | EDJ-KQ63154 | Human | 7113 | Details Get a Quote |
| TMPRSS2 Knockout HCT 116 Cell Line | EDJ-KQ71627 | Human | 7113 | Details Get a Quote |
| TMPRSS2 Overexpression HEK293 Stable Cell Line | EDJ-GQ109 | Human | 7113 | Details Get a Quote |
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