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Identification
HMDB Protein ID HMDBP08063
Secondary Accession Numbers
  • 13774
Name Troponin T, cardiac muscle
Synonyms
  1. Cardiac muscle troponin T
  2. TnTc
  3. cTnT
Gene Name TNNT2
Protein Type Unknown
Biological Properties
General Function Translation, ribosomal structure and biogenesis
Specific Function Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
Pathways
  • Acebutolol Action Pathway
  • Alprenolol Action Pathway
  • Amiodarone Action Pathway
  • Amlodipine Action Pathway
  • Arbutamine Action Pathway
  • Atenolol Action Pathway
  • Betaxolol Action Pathway
  • Bevantolol Action Pathway
  • Bisoprolol Action Pathway
  • Bopindolol Action Pathway
  • Bupranolol Action Pathway
  • Carteolol Action Pathway
  • Carvedilol Action Pathway
  • Diltiazem Action Pathway
  • Disopyramide Action Pathway
  • Dobutamine Action Pathway
  • Epinephrine Action Pathway
  • Esmolol Action Pathway
  • Felodipine Action Pathway
  • Flecainide Action Pathway
  • Fosphenytoin (Antiarrhythmic) Action Pathway
  • Ibutilide Action Pathway
  • Isoprenaline Action Pathway
  • Isradipine Action Pathway
  • Labetalol Action Pathway
  • Levobunolol Action Pathway
  • Lidocaine (Antiarrhythmic) Action Pathway
  • Metipranolol Action Pathway
  • Metoprolol Action Pathway
  • Mexiletine Action Pathway
  • Muscle/Heart Contraction
  • Nadolol Action Pathway
  • Nebivolol Action Pathway
  • Nifedipine Action Pathway
  • Nimodipine Action Pathway
  • Nisoldipine Action Pathway
  • Nitrendipine Action Pathway
  • Oxprenolol Action Pathway
  • Penbutolol Action Pathway
  • Phenytoin (Antiarrhythmic) Action Pathway
  • Pindolol Action Pathway
  • Practolol Action Pathway
  • Procainamide (Antiarrhythmic) Action Pathway
  • Propranolol Action Pathway
  • Quinidine Action Pathway
  • Sotalol Action Pathway
  • Timolol Action Pathway
  • Tocainide Action Pathway
  • Verapamil Action Pathway
Reactions Not Available
GO Classification Not Available
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:1
Locus 1q32
SNPs TNNT2
Gene Sequence
>849 bp
ATGTCTGACATAGAAGAGGTGGTGGAAGAGTACGAGGAGGAGGAGCAGGAAGAGCAGGAG
GAGGCAGCGGAAGAGGATGCTGAAGCAGAGGCTGAGACCGAGGAGACCAGGGCAGAAGAA
GATGAAGAAGAAGAGGAAGCAAAGGAGGCTGAAGATGGCCCAATGGAGGAGTCCAAACCA
AAGCCCAGGTCGTTCATGCCCAACTTGGTGCCTCCCAAGATCCCCGATGGAGAGAGAGTG
GACTTTGATGACATCCACCGGAAGCGCATGGAGAAGGACCTGAATGAGTTGCAGGCGCTG
ATCGAGGCTCACTTTGAGAACAGGAAGAAAGAGGAGGAGGAGCTCGTTTCTCTCAAAGAC
AGGATCGAGAGACGTCGGGCAGAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAG
AAGGAGCGGCAGAACCGCCTGGCTGAAGAGAGGGCTCGACGAGAGGAGGAGGAGAACAGG
AGGAAGGCTGAGGATGAGGCCCGGAAGAAGAAGGCTTTGTCCAACATGATGCATTTTGGG
GGTTACATCCAGAAGGCCCAGACAGAGCGGAAAAGTGGGAAGAGGCAGACTGAGCGGGAA
AAGAAGAAGAAGATTCTGGCTGAGAGGAGGAAGGTGCTGGCCATTGACCACCTGAATGAA
GATCAGCTGAGGGAGAAGGCCAAGGAGCTGTGGCAGAGCATCTATAACTTGGAGGCAGAG
AAGTTCGACCTGCAGGAGAAGTTCAAGCAGCAGAAATATGAGATCAATGTTCTCCGAAAC
AGGATCAACGATAACCAGAAAGTCTCCAAGACCCGCGGGAAGGCTAAAGTCACCGGGCGC
TGGAAATAG
Protein Properties
Number of Residues 298
Molecular Weight 35923.2
Theoretical pI 4.63
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Troponin T, cardiac muscle
MSDIEEVVEEYEEEEQEEAAVEEEEDWREDEDEQEEAAEEDAEAEAETEETRAEEDEEEE
EAKEAEDGPMEESKPKPRSFMPNLVPPKIPDGERVDFDDIHRKRMEKDLNELQALIEAHF
ENRKKEEEELVSLKDRIERRRAERAEQQRIRNEREKERQNRLAEERARREEEENRRKAED
EARKKKALSNMMHFGGYIQKQAQTERKSGKRQTEREKKKKILAERRKVLAIDHLNEDQLR
EKAKELWQSIYNLEAEKFDLQEKFKQQKYEINVLRNRINDNQKVSKTRGKAKVTGRWK
GenBank ID Protein 48255883
UniProtKB/Swiss-Prot ID P45379
UniProtKB/Swiss-Prot Entry Name TNNT2_HUMAN
PDB IDs
GenBank Gene ID Not Available
GeneCard ID TNNT2
GenAtlas ID TNNT2
HGNC ID HGNC:11949
References
General References
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  3. Kovalyov LI, Shishkin SS, Efimochkin AS, Kovalyova MA, Ershova ES, Egorov TA, Musalyamov AK: The major protein expression profile and two-dimensional protein database of human heart. Electrophoresis. 1995 Jul;16(7):1160-9. [PubMed:7498159 ]
  4. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. [PubMed:11106718 ]
  5. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. [PubMed:12707239 ]
  6. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003 Oct;64(4):339-49. [PubMed:12974739 ]
  7. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R: Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta. 2005 Jan;351(1-2):209-16. [PubMed:15563892 ]
  8. Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15. [PubMed:15769782 ]
  9. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005 Oct;42(10):e59. [PubMed:16199542 ]
  10. Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ: Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40. [PubMed:15542288 ]
  11. Mesnard L, Samson F, Espinasse I, Durand J, Neveux JY, Mercadier JJ: Molecular cloning and developmental expression of human cardiac troponin T. FEBS Lett. 1993 Aug 9;328(1-2):139-44. [PubMed:8344420 ]
  12. Townsend PJ, Farza H, MacGeoch C, Spurr NK, Wade R, Gahlmann R, Yacoub MH, Barton PJ: Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. Genomics. 1994 May 15;21(2):311-6. [PubMed:8088824 ]
  13. Townsend PJ, Barton PJ, Yacoub MH, Farza H: Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart. J Mol Cell Cardiol. 1995 Oct;27(10):2223-36. [PubMed:8576938 ]
  14. Anderson PA, Greig A, Mark TM, Malouf NN, Oakeley AE, Ungerleider RM, Allen PD, Kay BK: Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart. Circ Res. 1995 Apr;76(4):681-6. [PubMed:7534662 ]
  15. Mesnard L, Logeart D, Taviaux S, Diriong S, Mercadier JJ, Samson F: Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res. 1995 Apr;76(4):687-92. [PubMed:7895342 ]
  16. Gerull B, Osterziel KJ, Witt C, Dietz R, Thierfelder L: A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. Hum Mutat. 1998;11(2):179-82. [PubMed:9482583 ]
  17. Farza H, Townsend PJ, Carrier L, Barton PJ, Mesnard L, Bahrend E, Forissier JF, Fiszman M, Yacoub MH, Schwartz K: Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene. J Mol Cell Cardiol. 1998 Jun;30(6):1247-53. [PubMed:9689598 ]
  18. Takeda S, Yamashita A, Maeda K, Maeda Y: Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form. Nature. 2003 Jul 3;424(6944):35-41. [PubMed:12840750 ]
  19. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12. [PubMed:8205619 ]
  20. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, et al.: Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995 Apr 20;332(16):1058-64. [PubMed:7898523 ]
  21. Forissier JF, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Hainque B, Townsend PJ, Yacoub MH, Faure S, Dubourg O, Millaire A, Hagege AA, Desnos M, Komajda M, Schwartz K: Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation. 1996 Dec 15;94(12):3069-73. [PubMed:8989109 ]
  22. Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H: Sudden death due to troponin T mutations. J Am Coll Cardiol. 1997 Mar 1;29(3):549-55. [PubMed:9060892 ]
  23. Varnava A, Baboonian C, Davison F, de Cruz L, Elliott PM, Davies MJ, McKenna WJ: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart. 1999 Nov;82(5):621-4. [PubMed:10525521 ]
  24. Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Kishimoto T, Yamauchi-Takihara K: Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1997 Feb;29(2):839-43. [PubMed:9140840 ]
  25. Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE: Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation. 2000 Oct 17;102(16):1950-5. [PubMed:11034944 ]
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  27. Peddy SB, Vricella LA, Crosson JE, Oswald GL, Cohn RD, Cameron DE, Valle D, Loeys BL: Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics. 2006 May;117(5):1830-3. [PubMed:16651346 ]