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P45379 (TNNT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Troponin T, cardiac muscle

Short name=TnTc
Alternative name(s):
Cardiac muscle troponin T
Short name=cTnT
Gene names
Name:TNNT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length298 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Tissue specificity

Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.

Post-translational modification

Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity By similarity.

Involvement in disease

Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.25 Ref.27 Ref.29 Ref.31 Ref.33

Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23 Ref.24 Ref.28 Ref.30 Ref.33

Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.32

Sequence similarities

Belongs to the troponin T family.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
   Molecular functionMuscle protein
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435. Source: GOC

atrial cardiac muscle tissue morphogenesis

Inferred from electronic annotation. Source: Ensembl

muscle filament sliding

Inferred from direct assay PubMed 12186860PubMed 15923195. Source: UniProtKB

negative regulation of ATPase activity

Inferred from direct assay PubMed 10850966PubMed 12093807PubMed 12093807PubMed 12093807PubMed 12093807. Source: UniProtKB

positive regulation of ATPase activity

Inferred from direct assay PubMed 10850966PubMed 12186860. Source: UniProtKB

regulation of heart contraction

Inferred from mutant phenotype Ref.28. Source: UniProtKB

regulation of muscle contraction

Inferred from electronic annotation. Source: InterPro

response to calcium ion

Inferred from direct assay PubMed 2530435PubMed 2530435PubMed 2530435PubMed 2530435. Source: UniProtKB

sarcomere organization

Inferred from electronic annotation. Source: Ensembl

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 16754800. Source: BHF-UCL

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

sarcomere

Traceable author statement PubMed 16754800. Source: BHF-UCL

striated muscle thin filament

Inferred from direct assay PubMed 12186860. Source: UniProtKB

troponin complex

Inferred from direct assay PubMed 12186860PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435PubMed 12093807PubMed 2530435. Source: UniProtKB

   Molecular_functionactin binding

Inferred from direct assay Ref.15. Source: UniProtKB

structural constituent of cytoskeleton

Inferred from electronic annotation. Source: Ensembl

tropomyosin binding

Inferred from direct assay PubMed 10850966. Source: UniProtKB

troponin C binding

Inferred from physical interaction Ref.28Ref.15. Source: UniProtKB

troponin I binding

Inferred from physical interaction Ref.28. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 12 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: P45379-1)

Also known as: TNT1;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P45379-2)

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: Missing.
Isoform 3 (identifier: P45379-3)

The sequence of this isoform differs from the canonical sequence as follows:
     54-54: Missing.
Isoform 4 (identifier: P45379-4)

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: Missing.
     54-54: Missing.
Isoform 5 (identifier: P45379-5)

The sequence of this isoform differs from the canonical sequence as follows:
     201-201: Missing.
Isoform 6 (identifier: P45379-6)

Also known as: TNT3;

The sequence of this isoform differs from the canonical sequence as follows:
     23-32: Missing.
Isoform 7 (identifier: P45379-7)

Also known as: TNT4;

The sequence of this isoform differs from the canonical sequence as follows:
     18-32: Missing.
Isoform 8 (identifier: P45379-8)

Also known as: TNT2;

The sequence of this isoform differs from the canonical sequence as follows:
     18-22: Missing.
Isoform 9 (identifier: P45379-9)

The sequence of this isoform differs from the canonical sequence as follows:
     99-137: Missing.
Isoform 10 (identifier: P45379-10)

The sequence of this isoform differs from the canonical sequence as follows:
     201-203: Missing.
Isoform 11 (identifier: P45379-11)

The sequence of this isoform differs from the canonical sequence as follows:
     23-32: Missing.
     201-203: Missing.
Note: No experimental confirmation available.
Isoform 12 (identifier: P45379-12)

The sequence of this isoform differs from the canonical sequence as follows:
     54-54: Missing.
     99-137: Missing.
     201-203: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 298297Troponin T, cardiac muscle
PRO_0000186173

Amino acid modifications

Modified residue21N-acetylserine By similarity
Modified residue21Phosphoserine; by CK2 By similarity
Modified residue2041Phosphothreonine; by PKC/PRKCA By similarity
Modified residue2081Phosphoserine; by PKC/PRKCA By similarity
Modified residue2131Phosphothreonine; by PKC/PRKCA and RAF1 By similarity
Modified residue2941Phosphothreonine; by PKC/PRKCA By similarity

Natural variations

Alternative sequence18 – 3215Missing in isoform 7.
VSP_006642
Alternative sequence18 – 225Missing in isoform 8.
VSP_006641
Alternative sequence23 – 3210Missing in isoform 6 and isoform 11.
VSP_006643
Alternative sequence231Missing in isoform 2 and isoform 4.
VSP_006644
Alternative sequence541Missing in isoform 3, isoform 4 and isoform 12.
VSP_006645
Alternative sequence99 – 13739Missing in isoform 9 and isoform 12.
VSP_006646
Alternative sequence201 – 2033Missing in isoform 10, isoform 11 and isoform 12.
VSP_006648
Alternative sequence2011Missing in isoform 5.
VSP_006647
Natural variant381A → V in CMH2. Ref.33
Corresponds to variant rs200754249 [ dbSNP | Ensembl ].
VAR_067259
Natural variant801F → L in CMH2. Ref.25
VAR_019877
Natural variant891I → N in CMH2. Ref.15
VAR_007605
Natural variant1021R → L in CMH2. Ref.17
VAR_016195
Natural variant1021R → Q in CMH2. Ref.15
VAR_007606
Natural variant1021R → W in CMH2. Ref.18
VAR_016196
Natural variant1041R → L in CMH2. Ref.20
VAR_009194
Natural variant1141A → V in CMH2. Ref.21
VAR_016197
Natural variant1201F → I in CMH2. Ref.6 Ref.16
VAR_007607
Natural variant1201F → V in CMH2. Ref.25
VAR_019878
Natural variant1391R → K.
VAR_013021
Natural variant1401R → C in CMH2. Ref.29
VAR_042747
Natural variant1401R → K.
Corresponds to variant rs2996496 [ dbSNP | Ensembl ].
VAR_029450
Natural variant1411R → W in CMD1D. Ref.28 Ref.33
VAR_043983
Natural variant1511R → W in CMD1D. Ref.24 Ref.30
VAR_016198
Natural variant1701Missing in CMH2.
VAR_007608
Natural variant1731E → K in CMH2. Ref.16
VAR_007609
Natural variant1891S → F in CMH2. Ref.22
VAR_016199
Natural variant2101Missing in CMD1D. Ref.23
VAR_022931
Natural variant2151R → L in CMD1D. Ref.28
VAR_043984
Natural variant2201Missing in CMD1D. Ref.28 Ref.33
VAR_043985
Natural variant2211I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
VAR_042748
Natural variant2311I → T.
Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
VAR_057310
Natural variant2491S → T.
VAR_013022
Natural variant2541E → D in CMH2. Ref.16
Corresponds to variant rs45466197 [ dbSNP | Ensembl ].
VAR_007610
Natural variant2631K → R. Ref.12
VAR_007611
Natural variant2791N → Y.
Corresponds to variant rs4523540 [ dbSNP | Ensembl ].
VAR_029451
Natural variant2811N → I in CMH2. Ref.25
VAR_019879
Natural variant2881R → C in CMH2. Ref.16 Ref.31 Ref.33
VAR_007612
Natural variant2881R → P in CMH2. Ref.19 Ref.27
VAR_007613
Natural variant2961R → C in CMH2. Ref.25
VAR_019880

Experimental info

Sequence conflict2421K → E in CAA70840. Ref.12

Secondary structure

..... 298
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (TNT1) [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 69974F2200CD5BEF

FASTA29835,924
        10         20         30         40         50         60 
MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE TRAEEDEEEE 

        70         80         90        100        110        120 
EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI HRKRMEKDLN ELQALIEAHF 

       130        140        150        160        170        180 
ENRKKEEEEL VSLKDRIERR RAERAEQQRI RNEREKERQN RLAEERARRE EEENRRKAED 

       190        200        210        220        230        240 
EARKKKALSN MMHFGGYIQK QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR 

       250        260        270        280        290 
EKAKELWQSI YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK 

« Hide

Isoform 2 [UniParc].

Checksum: 7A88F02291D9BFFB
Show »

FASTA29735,794
Isoform 3 [UniParc].

Checksum: D2B458D8909A0404
Show »

FASTA29735,794
Isoform 4 [UniParc].

Checksum: ED0B5849847E101A
Show »

FASTA29635,665
Isoform 5 [UniParc].

Checksum: A19DAF593FFCC93C
Show »

FASTA29735,795
Isoform 6 (TNT3) [UniParc].

Checksum: F7956C33F94255B0
Show »

FASTA28834,590
Isoform 7 (TNT4) [UniParc].

Checksum: E70D862729679EF5
Show »

FASTA28334,091
Isoform 8 (TNT2) [UniParc].

Checksum: D2E545EC0C3034DE
Show »

FASTA29335,424
Isoform 9 [UniParc].

Checksum: A0B999CC0E2005AB
Show »

FASTA25931,137
Isoform 10 [UniParc].

Checksum: 51ADF1E637A72DDC
Show »

FASTA29535,596
Isoform 11 [UniParc].

Checksum: F0547EE868527B3D
Show »

FASTA28534,263
Isoform 12 [UniParc].

Checksum: D20694B11931D87A
Show »

FASTA25530,681

References

« Hide 'large scale' references
[1]"Molecular cloning and developmental expression of human cardiac troponin T."
Mesnard L., Samson F., Espinasse I., Durand J., Neveux J.-Y., Mercadier J.-J.
FEBS Lett. 328:139-144(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
Tissue: Heart.
[2]"Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q."
Townsend P.J., Farza H., Macgeoch C., Spurr N.K., Wade R., Gahlman R., Yacoub M.H., Barton P.J.R.
Genomics 21:311-316(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6 AND 12).
Tissue: Heart muscle.
[3]"Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart."
Townsend P.J., Barton P.J.R., Yacoub M.H., Farza H.
J. Mol. Cell. Cardiol. 27:2223-2236(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
Tissue: Fetal heart.
[4]"Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart."
Anderson P.A., Greig A., Mark T.M., Malouf N.N., Oakeley A.E., Ungerleider R.M., Allen P.D., Kay B.K.
Circ. Res. 76:681-686(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6; 7 AND 8).
Tissue: Heart.
[5]"Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart."
Mesnard L., Logeart D., Taviaux S., Diriong S., Mercadier J.-J., Samson F.
Circ. Res. 76:687-692(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6 AND 10).
Tissue: Fetal heart.
[6]"A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy."
Gerull B., Osterziel K.-J., Witt C., Dietz R., Thierfelder L.
Hum. Mutat. 11:179-182(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 6), VARIANT CMH2 ILE-120.
Tissue: Heart muscle.
[7]"Genomic organization of the human cardiac troponin T gene (TNNT2) and characterization of the candidate promoter region."
D'Cruz L.G., Oberoi J., Mughal F., Steffensen U., Steffensen M., Kubo T., Mogensen J., McKoy G., O'Donnoghue A., Pondel M., McKenna W.J., Carter N.D., Baboonian C.
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 6).
[8]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
Tissue: Heart.
[9]NHLBI resequencing and genotyping service (RS&G)
Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[10]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 11).
Tissue: Uterus.
[12]"Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene."
Farza H., Townsend P.J., Carrier L., Barton P.J., Mesnard L., Bahrend E., Forissier J.F., Fiszman M., Yacoub M.H., Schwartz K.
J. Mol. Cell. Cardiol. 30:1247-1253(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-229 AND 231-288, ALTERNATIVE SPLICING, VARIANT ARG-263.
Tissue: Blood.
[13]"The major protein expression profile and two-dimensional protein database of human heart."
Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K.
Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 70-76 AND 177-182.
Tissue: Heart.
[14]"Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form."
Takeda S., Yamashita A., Maeda K., Maeda Y.
Nature 424:35-41(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.61 ANGSTROMS) OF 193-298.
[15]"Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere."
Thierfelder L., Watkins H., Macrae C., Lamas R., McKenna W.J., Vosberg H.-P., Seidman J.G., Seidman C.E.
Cell 77:701-712(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH2 ASN-89 AND GLN-102.
[16]"Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy."
Watkins H., McKenna W.J., Thierfelder L., Suk H.J., Anan R., O'Donoghue A., Spirito P., Matsumori A., Moravec C.S., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 332:1058-1064(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH2 ILE-120; LYS-173; ASP-254 AND CYS-288.
[17]"Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy."
Forissier J.F., Carrier L., Farza H., Bonne G., Bercovici J., Richard P., Hainque B., Townsend P.J., Yacoub M.H., Faure S., Dubourg O., Millaire A., Hagege A.A., Desnos M., Komajda M., Schwartz K.
Circulation 94:3069-3073(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 LEU-102.
[18]"Sudden death due to troponin T mutations."
Moolman J.C., Corfield V.A., Posen B., Ngumbela K., Seidman C., Brink P.A., Watkins H.
J. Am. Coll. Cardiol. 29:549-555(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 TRP-102.
[19]"A novel missense Arg 278 Pro mutation in the troponin T gene (TNNT2)."
Erdmann J., Wischke S., Kallisch H., Riedel K., Heidenreich M., Fleck E., Regitz-Zagrosek V.
Hum. Mutat. 12:364-364(1998)
Cited for: VARIANT CMH2 PRO-288.
[20]"A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy."
Varnava A., Baboonian C., Davison F., de Cruz L., Elliott P.M., Davies M.J., McKenna W.J.
Heart 82:621-624(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 LEU-104.
[21]"Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy."
Nakajima-Taniguchi C., Matsui H., Fujio Y., Nagata S., Kishimoto T., Yamauchi-Takihara K.
J. Mol. Cell. Cardiol. 29:839-843(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 VAL-114.
[22]"Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy."
Ho C.Y., Lever H.M., DeSanctis R., Farver C.F., Seidman J.G., Seidman C.E.
Circulation 102:1950-1955(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 PHE-189.
[23]"Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy."
Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., Smoot L., Mullen M.P., Woolf P.K., Wigle E.D., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 343:1688-1696(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1D LYS-210 DEL.
[24]"Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy."
Li D., Czernuszewicz G.Z., Gonzalez O., Tapscott T., Karibe A., Durand J.B., Brugada R., Hill R., Gregoritch J.M., Anderson J.L., Quinones M., Bachinski L.L., Roberts R.
Circulation 104:2188-2193(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1D TRP-151.
[25]"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH2 LEU-80; VAL-120; ILE-281 AND CYS-296.
[26]Erratum
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 109:3258-3258(2004)
[27]"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 PRO-288.
[28]"Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy."
Mogensen J., Murphy R.T., Shaw T., Bahl A., Redwood C., Watkins H., Burke M., Elliott P.M., McKenna W.J.
J. Am. Coll. Cardiol. 44:2033-2040(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1D TRP-141; LEU-215 AND LYS-220 DEL.
[29]"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.
Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 CYS-140.
[30]"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene."
Villard E., Duboscq-Bidot L., Charron P., Benaiche A., Conraads V., Sylvius N., Komajda M.
Eur. Heart J. 26:794-803(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1D TRP-151.
[31]"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH2 CYS-288.
[32]"Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene."
Peddy S.B., Vricella L.A., Crosson J.E., Oswald G.L., Cohn R.D., Cameron D.E., Valle D., Loeys B.L.
Pediatrics 117:1830-1833(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RCM3.
[33]"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C., Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F., Faivre L., Eicher J.C., Rousson R.
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH2 VAL-38 AND CYS-288, VARIANTS CMD1D TRP-141 AND LYS-220 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S64668 mRNA. Translation: AAB27731.1. Sequence problems.
X74819 mRNA. Translation: CAA52818.1.
L40162 mRNA. Translation: AAA67422.1.
X79855 mRNA. Translation: CAA56235.1.
X79856 mRNA. Translation: CAA56236.1.
X79857 mRNA. Translation: CAA56237.1.
X79858 mRNA. Translation: CAA56238.1.
AF004422 expand/collapse EMBL AC list , AF004409, AF004410, AF004411, AF004412, AF004413, AF004414, AF004415, AF004416, AF004417, AF004418, AF004419, AF004420, AF004421 Genomic DNA. Translation: AAC39590.1.
AY044273 Genomic DNA. Translation: AAK92231.1.
AK290621 mRNA. Translation: BAF83310.1.
EF179183 Genomic DNA. Translation: ABN05286.1.
AC119427 Genomic DNA. No translation available.
BC002653 mRNA. Translation: AAH02653.1.
Y09626 Genomic DNA. Translation: CAA70839.1.
Y09627 Genomic DNA. Translation: CAA70840.1.
Y09628 Genomic DNA. Translation: CAA70841.1.
S71126 mRNA. Translation: AAB30956.1.
S71127, S71128 Genomic DNA. Translation: AAB30957.1.
CCDSCCDS30968.1. [P45379-11]
CCDS30969.1. [P45379-6]
PIRTPHUTC. A54671.
RefSeqNP_000355.2. NM_000364.3. [P45379-10]
NP_001001430.1. NM_001001430.2. [P45379-6]
NP_001001431.1. NM_001001431.2. [P45379-11]
NP_001001432.1. NM_001001432.2.
NP_001263274.1. NM_001276345.1. [P45379-1]
NP_001263275.1. NM_001276346.1.
NP_001263276.1. NM_001276347.1. [P45379-6]
XP_006711571.1. XM_006711508.1. [P45379-6]
XP_006711575.1. XM_006711512.1. [P45379-11]
XP_006711576.1. XM_006711513.1. [P45379-7]
UniGeneHs.533613.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1J1DX-ray2.61B/E193-298[»]
1J1EX-ray3.30B/E193-298[»]
ProteinModelPortalP45379.
SMRP45379. Positions 210-284.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112993. 7 interactions.
IntActP45379. 1 interaction.
MINTMINT-3015968.
STRING9606.ENSP00000350511.

Chemistry

ChEMBLCHEMBL2095202.

PTM databases

PhosphoSiteP45379.

Polymorphism databases

DMDM21264536.

2D gel databases

UCD-2DPAGEP45379.

Proteomic databases

PaxDbP45379.
PRIDEP45379.

Protocols and materials databases

DNASU7139.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367315; ENSP00000356284; ENSG00000118194. [P45379-11]
ENST00000367317; ENSP00000356286; ENSG00000118194. [P45379-6]
ENST00000367318; ENSP00000356287; ENSG00000118194. [P45379-6]
ENST00000367320; ENSP00000356289; ENSG00000118194.
ENST00000367322; ENSP00000356291; ENSG00000118194. [P45379-11]
ENST00000509001; ENSP00000422031; ENSG00000118194. [P45379-6]
GeneID7139.
KEGGhsa:7139.
UCSCuc001gwf.4. human. [P45379-1]
uc001gwg.4. human. [P45379-11]
uc001gwi.4. human. [P45379-3]
uc009wzt.2. human. [P45379-6]

Organism-specific databases

CTD7139.
GeneCardsGC01M201328.
GeneReviewsTNNT2.
HGNCHGNC:11949. TNNT2.
HPACAB015371.
HPA015774.
HPA017888.
MIM115195. phenotype.
191045. gene.
601494. phenotype.
612422. phenotype.
neXtProtNX_P45379.
Orphanet154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBPA36638.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG299534.
HOGENOMHOG000231049.
HOVERGENHBG052790.
InParanoidP45379.
KOK12045.
OrthoDBEOG7W155J.
PhylomeDBP45379.
TreeFamTF313321.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressP45379.
BgeeP45379.
CleanExHS_TNNT2.
GenevestigatorP45379.

Family and domain databases

InterProIPR027707. TNNT.
IPR001978. Troponin.
[Graphical view]
PANTHERPTHR11521. PTHR11521. 1 hit.
PfamPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTNNT2. human.
EvolutionaryTraceP45379.
GeneWikiTNNT2.
GenomeRNAi7139.
NextBio27933.
PROP45379.
SOURCESearch...

Entry information

Entry nameTNNT2_HUMAN
AccessionPrimary (citable) accession number: P45379
Secondary accession number(s): A2TDB9 expand/collapse secondary AC list , A8K3K6, O60214, Q99596, Q99597, Q9BUF6, Q9UM96
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 149 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM