Property Summary

NCBI Gene PubMed Count 41
PubMed Score 35.46
PubTator Score 50.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
esophageal adenocarcinoma 2.700 1.8e-02
psoriasis -1.900 1.3e-04
osteosarcoma -1.233 6.1e-07
intraductal papillary-mucinous adenoma (... 3.200 4.1e-03
intraductal papillary-mucinous carcinoma... 2.700 2.2e-02
intraductal papillary-mucinous neoplasm ... 4.700 5.6e-03
colon cancer 2.000 1.4e-02
active Crohn's disease 2.708 1.4e-02
active ulcerative colitis 3.345 1.3e-02
pancreatic cancer 2.700 6.3e-07
pilocytic astrocytoma -1.100 2.1e-03
nasopharyngeal carcinoma -1.200 2.1e-03
spina bifida -1.480 3.5e-02
Breast cancer -1.600 3.3e-03
ovarian cancer 1.700 6.3e-03
pituitary cancer -1.500 3.7e-05

Gene RIF (21)

PMID Text
26531004 Study demonstrated that TMPRSS3 contributes to ovarian cancer cell proliferation, invasion and metastasis, probably via activation of the ERK1/2 signaling pathway.
26191247 TMPRSS3 expression is an independent prognostic factor for breast cancer patients. Bioinformatic analysis of potential TMPRSS3 binding proteins revealed that TMPRSS3 could be a key regulator of cancer pathways.
26014348 Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival
25474651 homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family
25029565 Single nucleotide polymorphisms in TMPRSS3 (rs3814903 and rs11203200) are significantly associated with breast cancer risk.
24526180 The prevalence of TMPRSS3 mutations among Korean postlingual hearing loss is 8.3 %. The p.A306T variant of TMPRSS3 is the common founder allele in Koreans. A novel variant, p.T248M of TMPRSS3, was predicted to have milder pathogenicity.
24416283 Description of the spectrum of mutations in TMPRSS3 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
23958653 Association between TMPRSS3 genotypes and phenotype variants in autosomal recessive nonsyndromic hearing loss.
22446619 Data imply that TMPRSS3-A/D overexpression in EOC is probably due to hypomethylation of their control region.
22382023 TMPRSS3 gene is not a major contributor to non-syndromic deafness in the Moroccan population.
21786053 Our data suggest that not only the protein truncating mutation p.T70fs has a severe effect but also the amino acid substitutions p.Ala306Thr and p.Val199Met.
21534946 Six TMPRSS3 variants were found to cosegregate in 10 consanguineous Pakistani families with autosomal recessive non-syndromic hearing impairment.
17981648 TMPRSS3 mutations are not a common cause of hereditary deafness, but the elucidation of its function is nevertheless important for better understanding of hearing [review]
17551081 The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results.
16021470 The mutant TMPRSS3 harboring the novel R216L missense mutation within the predicted cleavage site of the protein fails to undergo proteolytic cleavage and is unable to activate ENaC.
15447792 Identification of mutations in TMPRSS3 in Pakistani families with recessive, nonsyndromic congenital deafness.
12920079 Disruption of the proteolytic activity of TMPRSS3 is tightly correlated with the pathogenesis of hearing loss.
12393794 The TMPRSS3 protein mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
11907649 Observational study of gene-disease association. (HuGE Navigator)
11907649 TMPRSS3 mutations contribute to fewer than 1% of nonsyndromic childhood deafness in Caucasians.
11462234 missense mutations in autosomal recessive sensorineural deafness

AA Sequence

MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIH      1 - 70
FDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANV     71 - 140
ACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHR    141 - 210
RGYSSRIVGGNMSLLSQWPWQASLQFQGYHLCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDN    211 - 280
PAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGA    281 - 350
GDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATS    351 - 420
FGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT                                        421 - 454
//

Text Mined References (40)

PMID Year Title
26531004 2016 TMPRSS3 modulates ovarian cancer cell proliferation, invasion and metastasis.
26191247 2015 TMPRSS3 is a novel poor prognostic factor for breast cancer.
26014348 2015 Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival.
25474651 2014 Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
25029565 2014 Type II transmembrane serine protease gene variants associate with breast cancer.
24526180 2014 A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
23958653 2013 Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
22446619 2012 A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation.
22382023 2012 Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
21534946 2012 Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
21117948 Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
20146813 2010 High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
19888295 2010 Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
19170735 2009 Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
19117353 2009 Induction of human tumor-associated differentially expressed gene-12 (TADG-12/TMPRSS3)-specific cytotoxic T lymphocytes in human lymphocyte antigen-A2.1-positive healthy donors and patients with advanced ovarian cancer.
17981648 2008 TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
17918732 2008 An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
17551081 2007 Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
16780588 2006 Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16021470 2005 A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15447792 2004 Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
15361711 The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12920079 2003 Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12393794 2002 The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
11907649 2002 Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
11462234 2001 Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
11424922 2001 Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
11137999 2001 Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
11068177 2000 Ovarian tumor cells express a novel multi-domain cell surface serine protease.
10830953 2000 The DNA sequence of human chromosome 21.
10825129 2000 A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer.
8651303 1996 Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.