TMPRSS3 (transmembrane protease, serine 3)

2005-07-01   Malte Buchholz , Thomas M Gress 

Universitât 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.

Bibliography

Pubmed IDLast YearTitleAuthors
154477922004Characterization 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
114249222001Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.Ben-Yosef T et al
146951722003Highly 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
129200792003Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.Lee YJ et al
153617112004The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer.Sawasaki T et al
111379992001Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.Scott HS et al
160214702005A 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

Gene IDTranscript IDUniprot
ENSG00000160183ENST00000398397P57727
ENSG00000160183ENST00000398405B7WPR2
ENSG00000160183ENST00000433957P57727
ENSG00000160183ENST00000644384P57727
ENSG00000160183ENST00000652415P57727

Expression (GTEx)

0
1
2
3
4
5
6
7
8

References

Pubmed IDYearTitleCitations
123937942002The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.56
217860532011Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.23
114622342001Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.20
119076492002Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.19
119076492002Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.19
129200792003Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.19
175510812007Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.17
160214702005A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.16
179816482008TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.15
154477922004Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.14

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