TMPRSS3: Transmembrane Serine Protease 3
A key gene in hereditary hearing loss and cochlear function
Gene Information Card
| Symbol | TMPRSS3 |
|---|---|
| Full Name | Transmembrane Serine Protease 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 64699 ncbi.nlm.nih.gov/gene/64699 |
| Ensembl ID | ENSG00000160183 |
| UniProt ID | P57727 |
| OMIM ID | 605511 |
| HGNC ID | 11877 |
| Aliases | DFNB8, DFNB10, TADG12, EOS |
Description
TMPRSS3 encodes a transmembrane serine protease that is essential for normal cochlear function. Mutations in this gene cause autosomal recessive deafness types DFNB8 and DFNB10. The protein is involved in proteolytic processing of extracellular matrix components and activation of ion channels in the inner ear.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness 8 (DFNB8) | Loss-of-function mutations in TMPRSS3 disrupt protease activity, leading to progressive hearing loss | ClinVar, OMIM |
| Autosomal recessive deafness 10 (DFNB10) | Similar loss-of-function mechanism causing congenital or prelingual severe-to-profound hearing loss | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High (RNA) - GTEx |
| Inner ear | Not available | High - literature |
| Testis | Not available | Moderate - GTEx |
| Kidney | Not available | Low - GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used for functional studies |
| HeLa | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208delC | Frameshift | Rare | Loss of function - hearing loss |
| c.413C>A (p.Ala138Asp) | Missense | Pathogenic | Reduced protease activity |
| c.916G>A (p.Gly306Arg) | Missense | Pathogenic | Impaired protein folding and trafficking |
Mutation functional classification
Loss of Function (LOF)
Most TMPRSS3 mutations cause loss of proteolytic function, leading to deafness.
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
• Inner ear development
Protein Summary
TMPRSS3 is a 454-amino acid transmembrane serine protease with a signal peptide, a transmembrane domain, and a serine protease domain. It is expressed in the cochlea and is critical for auditory function. The protein is thought to activate ion channels or process extracellular matrix components necessary for hair cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS3 Knockout HEK293 Cell Line | EDJ-KQ15857 | Human | 64699 | Details Get a Quote |
| TMPRSS3 Knockout HeLa Cell Line | EDJ-KQ49068 | Human | 64699 | Details Get a Quote |
| TMPRSS3 Knockout A-549 Cell Line | EDJ-KQ65584 | Human | 64699 | Details Get a Quote |
| TMPRSS3 Knockout HCT 116 Cell Line | EDJ-KQ74014 | Human | 64699 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
