TMPRSS6
Protein-coding gene in the species Homo sapiens
Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene .[ 5]
Based on twin studies, mutations in TMPRSS6 gene have a correlation with iron deficiency predisposition.[ 6]
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.[ 5]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000187045 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016942 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: TMPRSS6 transmembrane protease, serine 6" .^ 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.
Further reading
Netzel-Arnett S, Hooper JD, Szabo R, et al. (2004). "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. doi :10.1023/A:1023003616848 . PMID 12784999 . S2CID 21824244 . Ramsay AJ, Reid JC, Velasco G, et al. (2007). "The type II transmembrane serine protease matriptase-2--identification, structural features, enzymology, expression pattern and potential roles" (PDF) . Front. Biosci . 13 (13): 569–79. doi :10.2741/2702 . PMID 17981570 . S2CID 5578120 . Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95. Bibcode :1999Natur.402..489D . doi :10.1038/990031 PMID 10591208 . Velasco G, Cal S, Quesada V, et al. (2002). "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. doi :10.1074/jbc.M203007200 PMID 12149247 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . 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 . PMC 403697 PMID 12975309 . 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 . Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome" . Genome Biol . 5 (10): R84. doi :10.1186/gb-2004-5-10-r84 PMC 545604 PMID 15461802 . 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 . PMC 528928 PMID 15489334 . Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature . 437 (7062): 1173–8. Bibcode :2005Natur.437.1173R . doi :10.1038/nature04209 . PMID 16189514 . S2CID 4427026 . Hartikainen JM, Tuhkanen H, Kataja V, et al. (2006). "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. doi :10.1158/1078-0432.CCR-05-1417 PMID 16533768 . Parr C, Sanders AJ, Davies G, et al. (2007). "Matriptase-2 inhibits breast tumor growth and invasion and correlates with favorable prognosis for breast cancer patients" . Clin. Cancer Res . 13 (12): 3568–76. doi :10.1158/1078-0432.CCR-06-2357 PMID 17575220 .
