TMPRSS6 explained

Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene.^[1]

Based on twin studies, mutations in TMPRSS6 gene have a correlation with iron deficiency predisposition.^[2]

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver.

Further reading

• Netzel-Arnett S, Hooper JD, Szabo R, etal . Membrane anchored serine proteases: a rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer . Cancer Metastasis Rev. . 22 . 2–3 . 237–58 . 2004 . 12784999 . 10.1023/A:1023003616848 . 21824244 .
• Ramsay AJ, Reid JC, Velasco G, etal . The type II transmembrane serine protease matriptase-2--identification, structural features, enzymology, expression pattern and potential roles . Front. Biosci. . 13 . 13. 569–79 . 2007 . 17981570 . 10.2741/2702 . 5578120 .
• Dunham I, Shimizu N, Roe BA, etal . The DNA sequence of human chromosome 22 . Nature . 402 . 6761 . 489–95 . 1999 . 10591208 . 10.1038/990031 . 1999Natur.402..489D . free .
• Velasco G, Cal S, Quesada V, etal . Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins . J. Biol. Chem. . 277 . 40 . 37637–46 . 2002 . 12149247 . 10.1074/jbc.M203007200 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Clark HF, Gurney AL, Abaya E, etal . 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 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Collins JE, Wright CL, Edwards CA, etal . A genome annotation-driven approach to cloning the human ORFeome . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Hartikainen JM, Tuhkanen H, Kataja V, etal . Refinement of the 22q12-q13 breast cancer--associated region: evidence of TMPRSS6 as a candidate gene in an eastern Finnish population . Clin. Cancer Res. . 12 . 5 . 1454–62 . 2006 . 16533768 . 10.1158/1078-0432.CCR-05-1417 . free .
• Parr C, Sanders AJ, Davies G, etal . Matriptase-2 inhibits breast tumor growth and invasion and correlates with favorable prognosis for breast cancer patients . Clin. Cancer Res. . 13 . 12 . 3568–76 . 2007 . 17575220 . 10.1158/1078-0432.CCR-06-2357 . free .

Notes and References

1. Web site: Entrez Gene: TMPRSS6 transmembrane protease, serine 6.
2. An P, Wu Q, Wang H, et al. TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia. Hum Mol Genet. 2012;21(9):2124-2131.