TMPRSS6

TMPRSS6
Identifiers
Aliases	TMPRSS6, IRIDA, transmembrane protease, serine 6, matriptase-2, transmembrane serine protease 6
External IDs	OMIM: 609862; MGI: 1919003; HomoloGene: 12408; GeneCards: TMPRSS6; OMA:TMPRSS6 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q12.3 Start 37,065,436 bp End 37,109,563 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E1 Start 78,323,867 bp End 78,352,834 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver lactiferous duct pancreatic ductal cell pituitary gland anterior pituitary right testis cardia left testis putamen secondary oocyte Top expressed in left lobe of liver otolith organ utricle olfactory epithelium gallbladder vestibular sensory epithelium vestibular membrane of cochlear duct embryo embryo temporal muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type peptidase activity peptidase activity protein binding hydrolase activity serine-type endopeptidase activity metalloendopeptidase activity Cellular component membrane integral component of membrane intracellular anatomical structure extracellular space plasma membrane Biological process membrane protein proteolysis intracellular signal transduction angiogenesis fibrinolysis negative regulation of BMP signaling pathway self proteolysis extracellular matrix organization negative regulation of transcription, DNA-templated proteolysis cellular iron ion homeostasis iron ion homeostasis negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II extracellular matrix disassembly collagen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 164656 71753 Ensembl ENSG00000187045 ENSMUSG00000016942 UniProt Q8IU80 Q9DBI0 RefSeq (mRNA) NM_001289000 NM_001289001 NM_153609 NM_027902 NM_001355601 RefSeq (protein) NP_001275929 NP_001275930 NP_705837 NP_001361433 NP_082178 NP_001342530 Location (UCSC) Chr 22: 37.07 – 37.11 Mb Chr 15: 78.32 – 78.35 Mb PubMed search
Wikidata
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Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene.

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

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, 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.