TMPRSS11B
Transmembrane Serine Protease 11B
Gene Information Card
| Symbol | TMPRSS11B |
|---|---|
| Full Name | Transmembrane Serine Protease 11B |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.2 |
| NCBI Gene ID | 132724 ncbi.nlm.nih.gov/gene/132724 |
| Ensembl ID | ENSG00000185873 |
| UniProt ID | Q86WG5 |
| OMIM ID | 610711 |
| HGNC ID | 24060 |
| Aliases | HATL5, TMPRSS11B |
Description
TMPRSS11B (Transmembrane Serine Protease 11B) is a protein-coding gene that belongs to the type II transmembrane serine protease (TTSP) family. The encoded protein is involved in proteolytic processing and may play a role in epithelial cell biology and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Potential role in tumor invasion via extracellular matrix degradation | Limited evidence from expression studies |
| Respiratory diseases | Possible involvement in airway epithelial function | Inferred from family member functions |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Medium |
| Lung | 4.1 | Low |
| Prostate | 3.2 | Low |
| Breast | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 5.0 | Low expression |
| HaCaT (keratinocyte) | 15.0 | Medium expression |
| MCF7 (breast) | 2.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | <0.01% | Unknown |
| c.567C>T | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of protease activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • integral component of membrane | • extracellular space |
Pathways
• Proteolysis
• Extracellular matrix organization
Protein Summary
TMPRSS11B encodes a 418-amino acid transmembrane serine protease with a short cytoplasmic domain, a transmembrane domain, and an extracellular serine protease domain. It is predicted to activate growth factors or degrade extracellular matrix components, potentially influencing cell migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS11B Knockout HEK293 Cell Line | EDJ-KQ9302 | Human | 132724 | Details Get a Quote |
| TMPRSS11B Knockout HeLa Cell Line | EDJ-KQ58319 | Human | 132724 | Details Get a Quote |
| TMPRSS11B Knockout A-549 Cell Line | EDJ-KQ66808 | Human | 132724 | Details Get a Quote |
| TMPRSS11B Knockout HCT 116 Cell Line | EDJ-KQ75209 | Human | 132724 | Details Get a Quote |