TMPRSS3 (transmembrane protease, serine 3)
2005-07-01 Malte Buchholz , Thomas M Gress AffiliationUniversitât Ulm, Abteilung Innere Medizin I, Robert-Koch-Str. 8,89081 Ulm, Germany
Identity
HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
DFNB10,DFNB8,ECHOS1,TADG12
FUSION GENES
DNA/RNA
Description
13 exons spanning 24 kb
Transcription
Four alternative splice isoforms have been described, producing transcripts of 1.3 kb, 2.1 kb, 2.4 kb and 2.5 kb, respectively
Proteins
Description
Isoform A (full length) is 454 amino acids; isoforms B and C lack 127 aa at the N-terminus due to alternative splicing; isoform D is 344 aa and has a unique C-terminus due to alternative splicing. The full length isoform comprises an LDL-receptor A domain, a Scavenger receptor (Srcr) domain and a peptidase S1 S6 domain,
Expression
Expressed in many fetal and adult tissues
Localisation
Transmembrane
Function
Transmembrane serine protease; exact function unknown
Mutations
Germinal
Insertion, frameshift and missense mutations in the TMPRSS3 gene have been described in familial congenital (DFNB10) and childhood onset (DFNB8) deafness.
Implicated in
Entity name
Autosomal recessive neurosensory deafness; childhood-onset deafness (DFNB8); Autosomal recessive neurosensory deafness; congenital deafness (DFNB10)
Entity name
Ovarian Cancer
Disease
Variant D of TMPRSS3 has been reported to be overexpressed in ovarian carcinomas and has been proposed as a novel diagnostic marker.
Prognosis
High expression of variant D is correlated with advanced clinical stages of the disease.
Entity name
Pancreatic Cancer
Disease
TMPRSS3 has been reported to be overexpressed in pancreatic cancer. No information on splice variants or prognostic value is available.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15447792 | 2004 | Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. | Ahmed ZM et al |
| 11424922 | 2001 | Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. | Ben-Yosef T et al |
| 14695172 | 2003 | Highly expressed genes in pancreatic ductal adenocarcinomas: a comprehensive characterization and comparison of the transcription profiles obtained from three major technologies. | Iacobuzio-Donahue CA et al |
| 12920079 | 2003 | Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. | Lee YJ et al |
| 15361711 | 2004 | The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer. | Sawasaki T et al |
| 11137999 | 2001 | Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. | Scott HS et al |
| 16021470 | 2005 | A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. | Wattenhofer M et al |
Other Information
Locus ID:
NCBI: 64699
MIM: 605511
HGNC: 11877
Ensembl: ENSG00000160183
Variants:
dbSNP: 64699
ClinVar: 64699
TCGA: ENSG00000160183
COSMIC: TMPRSS3
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37777971 | 2024 | Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families. | 0 |
| 37777971 | 2024 | Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families. | 0 |
| 37331337 | 2023 | Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History. | 1 |
| 37331337 | 2023 | Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History. | 1 |
| 35543030 | 2022 | Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues. | 1 |
| 35961784 | 2022 | TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation. | 7 |
| 35543030 | 2022 | Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues. | 1 |
| 35961784 | 2022 | TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation. | 7 |
| 32235586 | 2020 | Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss. | 3 |
| 32306631 | 2020 | [Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness]. | 0 |
| 32235586 | 2020 | Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss. | 3 |
| 32306631 | 2020 | [Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness]. | 0 |
| 31016883 | 2019 | Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. | 3 |
| 31408246 | 2019 | TMPRSS3 regulates cell viability and apoptosis processes of HEI-OC1 cells via regulation of the circ-Slc4a2, miR-182 and Akt cascade. | 3 |
| 31412945 | 2019 | Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss. | 8 |
Citation
Malte Buchholz ; Thomas M Gress
TMPRSS3 (transmembrane protease, serine 3)
Atlas Genet Cytogenet Oncol Haematol. 2005-07-01
Online version: http://atlasgeneticsoncology.org/gene/42593/tmprss3
