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
TMPRSS3
LOCATION
21q22.3
LOCUSID
64699
ALIAS
DFNB10,DFNB8,ECHOS1,TADG12
FUSION GENES
Show Gene Fusions

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 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
377779712024Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.0
377779712024Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.0
373313372023Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.1
373313372023Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.1
355430302022Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues.1
359617842022TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.7
355430302022Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues.1
359617842022TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.7
322355862020Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.3
323066312020[Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].0
322355862020Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.3
323066312020[Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].0
310168832019Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.3
314082462019TMPRSS3 regulates cell viability and apoptosis processes of HEI-OC1 cells via regulation of the circ-Slc4a2, miR-182 and Akt cascade.3
314129452019Overinterpretation 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-(transmembrane-protease-serine-3)