TMPRSS3

Transmembrane protease, serine 3
Identifiers
Symbols	TMPRSS3 ; DFNB10; DFNB8; ECHOS1; TADG12
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56985
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TMPRSS3 220177 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Transmembrane protease, serine 3, also known as TMPRSS3, is a human gene.

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor associated gene that is overexpressed in ovarian tumors. Four alternatively spliced variants have been described, two of which encode identical products.

Further reading

• Guipponi M, Antonarakis SE, Scott HS (2007). "TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness". Front. Biosci. 13: 1557–67. PMID 17981648.CS1 maint: Multiple names: authors list (link)
• Bonné-Tamir B, DeStefano AL, Briggs CE; et al. (1996). "Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3". Am. J. Hum. Genet. 58 (6): 1254–9. PMID 8651303.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wallrapp C, Hähnel S, Müller-Pillasch F; et al. (2000). "A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer". Cancer Res. 60 (10): 2602–6. PMID 10825129.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hattori M, Fujiyama A, Taylor TD; et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Underwood LJ, Shigemasa K, Tanimoto H; et al. (2001). "Ovarian tumor cells express a novel multi-domain cell surface serine protease". Biochim. Biophys. Acta. 1502 (3): 337–50. PMID 11068177.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scott HS, Kudoh J, Wattenhofer M; et al. (2001). "Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness". Nat. Genet. 27 (1): 59–63. doi:10.1038/83768. PMID 11137999.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ben-Yosef T, Wattenhofer M, Riazuddin S; et al. (2001). "Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness". J. Med. Genet. 38 (6): 396–400. PMID 11424922.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Masmoudi S, Antonarakis SE, Schwede T; et al. (2001). "Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness". Hum. Mutat. 18 (2): 101–8. doi:10.1002/humu.1159. PMID 11462234.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wattenhofer M, Di Iorio MV, Rabionet R; et al. (2002). "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients". J. Mol. Med. 80 (2): 124–31. doi:10.1007/s00109-001-0310-6. PMID 11907649.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Guipponi M, Vuagniaux G, Wattenhofer M; et al. (2003). "The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro". Hum. Mol. Genet. 11 (23): 2829–36. PMID 12393794.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lee YJ, Park D, Kim SY, Park WJ (2003). "Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3". J. Med. Genet. 40 (8): 629–31. PMID 12920079.CS1 maint: Multiple names: authors list (link)
• Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ahmed ZM, Li XC, Powell SD; et al. (2004). "Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan". BMC Med. Genet. 5: 24. doi:10.1186/1471-2350-5-24. PMID 15447792.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wattenhofer M, Sahin-Calapoglu N, Andreasen D; et al. (2005). "A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein". Hum. Genet. 117 (6): 528–35. doi:10.1007/s00439-005-1332-x. PMID 16021470.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stelzl U, Worm U, Lalowski M; et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hu YH, Warnatz HJ, Vanhecke D; et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMID 16780588.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Elbracht M, Senderek J, Eggermann T; et al. (2007). "Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings". J. Med. Genet. 44 (6): e81. doi:10.1136/jmg.2007.049122. PMID 17551081.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)