TMPRSS12 Gene
Transmembrane Serine Protease 12
Gene Information Card
| Symbol | TMPRSS12 |
|---|---|
| Full Name | Transmembrane Serine Protease 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 283471 ncbi.nlm.nih.gov/gene/283471 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q86WG5 |
| OMIM ID | 619527 |
| HGNC ID | 24018 |
| Aliases | MT-SP12, TMPRSS12A |
Description
TMPRSS12 (Transmembrane Serine Protease 12) is a protein-coding gene that encodes a member of the type II transmembrane serine protease family. The protein contains a serine protease domain and is involved in proteolytic processing, potentially playing roles in cellular signaling and extracellular matrix remodeling. Expression is enriched in testis and certain epithelial tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression may contribute to tumor progression via proteolytic activation of growth factors | Limited evidence from expression studies |
| Male infertility | Potential role in sperm maturation and fertilization | Hypothesized based on testis expression |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 5.2 | Low |
| Lung | 3.1 | Low |
| Kidney | 2.8 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 4.5 | Moderate expression |
| HEK293 | 2.0 | Low expression |
| HepG2 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015G>A (p.Gly339Arg) | Missense | <0.01% | Unknown functional effect |
| c.1247C>T (p.Thr416Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • integral component of membrane (GO:0016021) |
| • proteolysis (GO:0006508) | • plasma membrane (GO:0005886) |
Pathways
• Proteolysis (Reactome: R-HSA-392499)
Protein Summary
The TMPRSS12 protein is a type II transmembrane serine protease with a short cytoplasmic N-terminal domain, a transmembrane region, and an extracellular C-terminal serine protease domain. It is predicted to cleave peptide bonds with specificity for basic residues. The protein is localized to the plasma membrane and may be involved in proteolytic cascades in reproductive and epithelial tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS12 Knockout HEK293 Cell Line | EDJ-KQ15861 | Human | 283471 | Details Get a Quote |
| TMPRSS12 Knockout HeLa Cell Line | EDJ-KQ59399 | Human | 283471 | Details Get a Quote |
| TMPRSS12 Knockout A-549 Cell Line | EDJ-KQ67866 | Human | 283471 | Details Get a Quote |
| TMPRSS12 Knockout HCT 116 Cell Line | EDJ-KQ76247 | Human | 283471 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
