TNNT2

Troponin T type 2 (cardiac), also known as TNNT2, is a human gene.

PBB_Summary
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summary_text = The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [cite web | title = Entrez Gene: TNNT2 troponin T type 2 (cardiac)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7139| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gomes AV, Barnes JA, Harada K, Potter JD |title=Role of troponin T in disease. |journal=Mol. Cell. Biochem. |volume=263 |issue= 1-2 |pages= 115–29 |year= 2005 |pmid= 15524172 |doi=
*cite journal | author=Noland TA, Raynor RL, Kuo JF |title=Identification of sites phosphorylated in bovine cardiac troponin I and troponin T by protein kinase C and comparative substrate activity of synthetic peptides containing the phosphorylation sites. |journal=J. Biol. Chem. |volume=264 |issue= 34 |pages= 20778–85 |year= 1990 |pmid= 2584239 |doi=
*cite journal | author=Breitbart RE, Nadal-Ginard B |title=Developmentally induced, muscle-specific trans factors control the differential splicing of alternative and constitutive troponin T exons. |journal=Cell |volume=49 |issue= 6 |pages= 793–803 |year= 1987 |pmid= 3581171 |doi=
*cite journal | author=Medford RM, Nguyen HT, Destree AT, "et al." |title=A novel mechanism of alternative RNA splicing for the developmentally regulated generation of troponin T isoforms from a single gene. |journal=Cell |volume=38 |issue= 2 |pages= 409–21 |year= 1984 |pmid= 6205765 |doi=
*cite journal | author=Tanokura M, Ohtsuki I |title=Interactions among chymotryptic troponin T subfragments, tropomyosin, troponin I and troponin C. |journal=J. Biochem. |volume=95 |issue= 5 |pages= 1417–21 |year= 1984 |pmid= 6746613 |doi=
*cite journal | author=Pearlstone JR, Smillie LB |title=Effects of troponin-I plus-C on the binding of troponin-T and its fragments to alpha-tropomyosin. Ca2+ sensitivity and cooperativity. |journal=J. Biol. Chem. |volume=258 |issue= 4 |pages= 2534–42 |year= 1983 |pmid= 6822572 |doi=
*cite journal | author=Kovalyov LI, Shishkin SS, Efimochkin AS, "et al." |title=The major protein expression profile and two-dimensional protein database of human heart. |journal=Electrophoresis |volume=16 |issue= 7 |pages= 1160–9 |year= 1996 |pmid= 7498159 |doi=
*cite journal | author=Anderson PA, Greig A, Mark TM, "et al." |title=Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart. |journal=Circ. Res. |volume=76 |issue= 4 |pages= 681–6 |year= 1995 |pmid= 7534662 |doi=
*cite journal | author=Mesnard L, Logeart D, Taviaux S, "et al." |title=Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. |journal=Circ. Res. |volume=76 |issue= 4 |pages= 687–92 |year= 1995 |pmid= 7895342 |doi=
*cite journal | author=Watkins H, McKenna WJ, Thierfelder L, "et al." |title=Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. |journal=N. Engl. J. Med. |volume=332 |issue= 16 |pages= 1058–64 |year= 1995 |pmid= 7898523 |doi=
*cite journal | author=Watkins H, MacRae C, Thierfelder L, "et al." |title=A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 333–7 |year= 1995 |pmid= 7981753 |doi= 10.1038/ng0493-333
*cite journal | author=Townsend PJ, Farza H, MacGeoch C, "et al." |title=Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. |journal=Genomics |volume=21 |issue= 2 |pages= 311–6 |year= 1994 |pmid= 8088824 |doi= 10.1006/geno.1994.1271
*cite journal | author=Thierfelder L, Watkins H, MacRae C, "et al." |title=Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. |journal=Cell |volume=77 |issue= 5 |pages= 701–12 |year= 1994 |pmid= 8205619 |doi=
*cite journal | author=Mesnard L, Samson F, Espinasse I, "et al." |title=Molecular cloning and developmental expression of human cardiac troponin T. |journal=FEBS Lett. |volume=328 |issue= 1-2 |pages= 139–44 |year= 1993 |pmid= 8344420 |doi=
*cite journal | author=Durand JB, Bachinski LL, Bieling LC, "et al." |title=Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. |journal=Circulation |volume=92 |issue= 12 |pages= 3387–9 |year= 1996 |pmid= 8521556 |doi=
*cite journal | author=Townsend PJ, Barton PJ, Yacoub MH, Farza H |title=Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart. |journal=J. Mol. Cell. Cardiol. |volume=27 |issue= 10 |pages= 2223–36 |year= 1996 |pmid= 8576938 |doi=
*cite journal | author=Jideama NM, Noland TA, Raynor RL, "et al." |title=Phosphorylation specificities of protein kinase C isozymes for bovine cardiac troponin I and troponin T and sites within these proteins and regulation of myofilament properties. |journal=J. Biol. Chem. |volume=271 |issue= 38 |pages= 23277–83 |year= 1996 |pmid= 8798526 |doi=
*cite journal | author=Forissier JF, Carrier L, Farza H, "et al." |title=Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. |journal=Circulation |volume=94 |issue= 12 |pages= 3069–73 |year= 1997 |pmid= 8989109 |doi=
*cite journal | author=Moolman JC, Corfield VA, Posen B, "et al." |title=Sudden death due to troponin T mutations. |journal=J. Am. Coll. Cardiol. |volume=29 |issue= 3 |pages= 549–55 |year= 1997 |pmid= 9060892 |doi=
*cite journal | author=Nakajima-Taniguchi C, Matsui H, Fujio Y, "et al." |title=Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. |journal=J. Mol. Cell. Cardiol. |volume=29 |issue= 2 |pages= 839–43 |year= 1997 |pmid= 9140840 |doi= 10.1006/jmcc.1996.0322

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