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Genetics Home Reference: your guide to understanding genetic conditions
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TMPRSS3

Reviewed November 2006

What is the official name of the TMPRSS3 gene?

The official name of this gene is “transmembrane protease, serine 3.”

TMPRSS3 is the gene's official symbol. The TMPRSS3 gene is also known by other names, listed below.

What is the normal function of the TMPRSS3 gene?

The TMPRSS3 gene provides instructions for making a protein that is part of a large protein family called serine proteases. Serine proteases are enzymes that are involved in many normal biological functions, including digestion, blood clotting, and inflammation. These enzymes have an active center that cuts apart (cleaves) other proteins into smaller pieces. They are called serine proteases because the active center contains a molecule called serine. Serine is a type of amino acid, which is a building block found in many proteins.

The exact function of the protein made by the TMPRSS3 gene is unknown, but it appears to be essential for normal hearing. The protein likely plays a role in the development and maintenance of the inner ear, and is also present in many other tissues. Researchers believe that the TMPRSS3 protein activates a protein called the epithelial amiloride sensitive sodium channel (ENaC), which probably controls important chemical signaling pathways in the inner ear.

Does the TMPRSS3 gene share characteristics with other genes?

The TMPRSS3 gene belongs to a family of genes called PRSS (serine peptidases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the TMPRSS3 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the TMPRSS3 gene

More than 10 mutations in the TMPRSS3 gene have been reported in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB8/10. Studies suggest that mutations in this gene may be a significant cause of nonsyndromic deafness in the Turkish population.

Most mutations in the TMPRSS3 gene lead to changes in single amino acids in critical regions of the TMPRSS3 protein. An insertion of a large amount of extra DNA in the TMPRSS3 gene is responsible for nonsyndromic deafness in one Pakistani family. Mutations in this gene probably impair the function of the TMPRSS3 protein. The altered protein cannot interact normally with other proteins (such as ENaC) or play its role in the development of structures in the inner ear.

cancers - associated with the TMPRSS3 gene

Researchers have discovered that the TMPRSS3 gene may be associated with some types of cancer. The TMPRSS3 protein is produced at high levels (overexpressed) in some pancreatic and ovarian cancer cells. Scientists do not know what causes this abnormal expression and have not determined whether the TMPRSS3 protein plays a role in the development of cancer. They suspect that it may be involved in the spread (metastasis) of tumors and could activate hormones or other growth factors in certain cancer cells.

Where is the TMPRSS3 gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 42,371,886 to 42,396,845

The TMPRSS3 gene is located on the long (q) arm of chromosome 21 at position 22.3.

The TMPRSS3 gene is located on the long (q) arm of chromosome 21 at position 22.3.

More precisely, the TMPRSS3 gene is located from base pair 42,371,886 to base pair 42,396,845 on chromosome 21.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TMPRSS3?

You and your healthcare professional may find the following resources about TMPRSS3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TMPRSS3 gene or gene products?

  • DFNB8
  • DFNB10
  • ECHOS1
  • serine protease TADG12
  • TADG12
  • TMPS3_HUMAN
  • Tumor associated differentially-expressed gene-12 protein

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TMPRSS3?

acids ; amino acid ; autosomal ; autosomal recessive ; blood clotting ; cancer ; channel ; clotting ; digestion ; DNA ; epithelial ; expressed ; gene ; inflammation ; insertion ; metastasis ; molecule ; ovarian ; pancreatic ; population ; protease ; protein ; recessive ; serine ; sodium ; sodium channel ; transmembrane ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. 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. 2004 Sep 24;5:24. (http://www.ncbi.nlm.nih.gov/pubmed/15447792?dopt=Abstract)
  • Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet. 2001 Jun;38(6):396-400. (http://www.ncbi.nlm.nih.gov/pubmed/11424922?dopt=Abstract)
  • Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. (http://www.ncbi.nlm.nih.gov/pubmed/12393794?dopt=Abstract)
  • Lee YJ, Park D, Kim SY, Park WJ. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J Med Genet. 2003 Aug;40(8):629-31. (http://www.ncbi.nlm.nih.gov/pubmed/12920079?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64699)
  • Sawasaki T, Shigemasa K, Gu L, Beard JB, O'Brien TJ. The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer. Tumour Biol. 2004 May-Jun;25(3):141-8. (http://www.ncbi.nlm.nih.gov/pubmed/15361711?dopt=Abstract)
  • Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet. 2001 Jan;27(1):59-63. (http://www.ncbi.nlm.nih.gov/pubmed/11137999?dopt=Abstract)
  • Underwood LJ, Shigemasa K, Tanimoto H, Beard JB, Schneider EN, Wang Y, Parmley TH, O'Brien TJ. Ovarian tumor cells express a novel multi-domain cell surface serine protease. Biochim Biophys Acta. 2000 Nov 15;1502(3):337-50. (http://www.ncbi.nlm.nih.gov/pubmed/11068177?dopt=Abstract)
  • Wallrapp C, Hähnel S, Müller-Pillasch F, Burghardt B, Iwamura T, Ruthenbürger M, Lerch MM, Adler G, Gress TM. A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer. Cancer Res. 2000 May 15;60(10):2602-6. (http://www.ncbi.nlm.nih.gov/pubmed/10825129?dopt=Abstract)
  • Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, Braillard B, Fowler-Jaeger N, Reymond A, Rossier BC, Karaguzel A, Antonarakis SE. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet. 2005 Oct;117(6):528-35. Epub 2005 Jul 14. (http://www.ncbi.nlm.nih.gov/pubmed/16021470?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: July 7, 2014