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Troponin T type 2 (cardiac)

PDB rendering based on 1j1d.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TNNT2 ; CMH2; CMPD2; LVNC6; RCM3; TnTC; cTnT
External IDs OMIM191045 MGI104597 HomoloGene68050 ChEMBL: 1741182 GeneCards: TNNT2 Gene
RNA expression pattern
PBB GE TNNT2 215389 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7139 21956
Ensembl ENSG00000118194 ENSMUSG00000026414
UniProt P45379 P50752
RefSeq (mRNA) NM_000364 NM_001130174
RefSeq (protein) NP_000355 NP_001123646
Location (UCSC) Chr 1:
201.33 – 201.35 Mb
Chr 1:
135.84 – 135.85 Mb
PubMed search [1] [2]

Troponin T type 2 (cardiac), also known as TNNT2, is a protein which in humans is encoded by the TNNT2 gene.[1][2]

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 restrictive[3] and 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.[4] Mutations of this gene may be associated with mild or absent hypertrophy and predominant restrictive disease, with a high risk of sudden cardiac death.[3] Advancement to dilated cardiomyopathy may be more rapid in patients with TNNT2 mutations than in those with myosin heavy chain mutations.[5][6]

See also[edit]

References[edit]

  1. ^ Townsend PJ, Farza H, MacGeoch C, Spurr NK, Wade R, Gahlmann R, Yacoub MH, Barton PJ (May 1994). "Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q". Genomics 21 (2): 311–6. doi:10.1006/geno.1994.1271. PMID 8088824. 
  2. ^ Gerull B, Osterziel KJ, Witt C, Dietz R, Thierfelder L (1998). "A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy". Hum. Mutat. 11 (2): 179–82. doi:10.1002/(SICI)1098-1004(1998)11:2<179::AID-HUMU12>3.0.CO;2-W. PMID 9482583. 
  3. ^ a b Revera M, Van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC (2007). "Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression". Cardiovasc J Afr 18 (3): 146–53. PMID 17612745. 
  4. ^ "Entrez Gene: TNNT2 troponin T type 2 (cardiac)". 
  5. ^ Fujino N, Shimizu M, Ino H, Okeie K, Yamaguchi M, Yasuda T, Kokado H, Mabuchi H (May 2001). "Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy". Clin Cardiol 24 (5): 397–402. doi:10.1002/clc.4960240510. PMID 11346248. 
  6. ^ Fujino N, Shimizu M, Ino H, Yamaguchi M, Yasuda T, Nagata M, Konno T, Mabuchi H (January 2002). "A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy". Am. J. Cardiol. 89 (1): 29–33. doi:10.1016/S0002-9149(01)02158-0. PMID 11779518. 

Further reading[edit]

  • Gomes AV, Barnes JA, Harada K, Potter JD (2005). "Role of troponin T in disease.". Mol. Cell. Biochem. 263 (1–2): 115–29. doi:10.1023/B:MCBI.0000041853.20588.a0. PMID 15524172. 
  • Noland TA, Raynor RL, Kuo JF (1990). "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". J. Biol. Chem. 264 (34): 20778–85. PMID 2584239. 
  • Breitbart RE, Nadal-Ginard B (1987). "Developmentally induced, muscle-specific trans factors control the differential splicing of alternative and constitutive troponin T exons". Cell 49 (6): 793–803. doi:10.1016/0092-8674(87)90617-9. PMID 3581171. 
  • Medford RM, Nguyen HT, Destree AT, et al. (1984). "A novel mechanism of alternative RNA splicing for the developmentally regulated generation of troponin T isoforms from a single gene". Cell 38 (2): 409–21. doi:10.1016/0092-8674(84)90496-3. PMID 6205765. 
  • Tanokura M, Ohtsuki I (1984). "Interactions among chymotryptic troponin T subfragments, tropomyosin, troponin I and troponin C". J. Biochem. 95 (5): 1417–21. PMID 6746613. 
  • Pearlstone JR, Smillie LB (1983). "Effects of troponin-I plus-C on the binding of troponin-T and its fragments to alpha-tropomyosin. Ca2+ sensitivity and cooperativity". J. Biol. Chem. 258 (4): 2534–42. PMID 6822572. 
  • Kovalyov LI, Shishkin SS, Efimochkin AS, et al. (1996). "The major protein expression profile and two-dimensional protein database of human heart". Electrophoresis 16 (7): 1160–9. doi:10.1002/elps.11501601192. PMID 7498159. 
  • Anderson PA, Greig A, Mark TM, et al. (1995). "Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart". Circ. Res. 76 (4): 681–6. PMID 7534662. 
  • Mesnard L, Logeart D, Taviaux S, et al. (1995). "Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart". Circ. Res. 76 (4): 687–92. PMID 7895342. 
  • Watkins H, McKenna WJ, Thierfelder L, et al. (1995). "Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy". N. Engl. J. Med. 332 (16): 1058–64. doi:10.1056/NEJM199504203321603. PMID 7898523. 
  • Watkins H, MacRae C, Thierfelder L, et al. (1995). "A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3". Nat. Genet. 3 (4): 333–7. doi:10.1038/ng0493-333. PMID 7981753. 
  • Townsend PJ, Farza H, MacGeoch C, et al. (1994). "Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q". Genomics 21 (2): 311–6. doi:10.1006/geno.1994.1271. PMID 8088824. 
  • Thierfelder L, Watkins H, MacRae C, et al. (1994). "Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere". Cell 77 (5): 701–12. doi:10.1016/0092-8674(94)90054-X. PMID 8205619. 
  • Mesnard L, Samson F, Espinasse I, et al. (1993). "Molecular cloning and developmental expression of human cardiac troponin T". FEBS Lett. 328 (1–2): 139–44. doi:10.1016/0014-5793(93)80981-Y. PMID 8344420. 
  • Durand JB, Bachinski LL, Bieling LC, et al. (1996). "Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32". Circulation 92 (12): 3387–9. PMID 8521556. 
  • Townsend PJ, Barton PJ, Yacoub MH, Farza H (1996). "Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart". J. Mol. Cell. Cardiol. 27 (10): 2223–36. doi:10.1016/S0022-2828(95)91587-7. PMID 8576938. 
  • Jideama NM, Noland TA, Raynor RL, et al. (1996). "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". J. Biol. Chem. 271 (38): 23277–83. doi:10.1074/jbc.271.38.23277. PMID 8798526. 
  • Forissier JF, Carrier L, Farza H, et al. (1997). "Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy". Circulation 94 (12): 3069–73. PMID 8989109. 
  • Moolman JC, Corfield VA, Posen B, et al. (1997). "Sudden death due to troponin T mutations". J. Am. Coll. Cardiol. 29 (3): 549–55. doi:10.1016/S0735-1097(96)00530-X. PMID 9060892. 
  • Nakajima-Taniguchi C, Matsui H, Fujio Y, et al. (1997). "Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy". J. Mol. Cell. Cardiol. 29 (2): 839–43. doi:10.1006/jmcc.1996.0322. PMID 9140840. 

External links[edit]



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