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P45379

- TNNT2_HUMAN

UniProt

P45379 - TNNT2_HUMAN

Protein

Troponin T, cardiac muscle

Gene

TNNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 151 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

    GO - Molecular functioni

    1. actin binding Source: UniProtKB
    2. structural constituent of cytoskeleton Source: Ensembl
    3. tropomyosin binding Source: UniProtKB
    4. troponin C binding Source: UniProtKB
    5. troponin I binding Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. atrial cardiac muscle tissue morphogenesis Source: Ensembl
    3. muscle filament sliding Source: UniProtKB
    4. negative regulation of ATPase activity Source: UniProtKB
    5. positive regulation of ATPase activity Source: UniProtKB
    6. regulation of heart contraction Source: UniProtKB
    7. regulation of muscle contraction Source: InterPro
    8. response to calcium ion Source: UniProtKB
    9. sarcomere organization Source: Ensembl
    10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Muscle protein

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Troponin T, cardiac muscle
    Short name:
    TnTc
    Alternative name(s):
    Cardiac muscle troponin T
    Short name:
    cTnT
    Gene namesi
    Name:TNNT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11949. TNNT2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. sarcomere Source: BHF-UCL
    3. striated muscle thin filament Source: UniProtKB
    4. troponin complex Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    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.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381A → V in CMH2. 1 Publication
    Corresponds to variant rs200754249 [ dbSNP | Ensembl ].
    VAR_067259
    Natural varianti80 – 801F → L in CMH2. 1 Publication
    VAR_019877
    Natural varianti89 – 891I → N in CMH2. 1 Publication
    VAR_007605
    Natural varianti102 – 1021R → L in CMH2. 1 Publication
    VAR_016195
    Natural varianti102 – 1021R → Q in CMH2. 1 Publication
    VAR_007606
    Natural varianti102 – 1021R → W in CMH2. 1 Publication
    VAR_016196
    Natural varianti104 – 1041R → L in CMH2. 1 Publication
    VAR_009194
    Natural varianti114 – 1141A → V in CMH2. 1 Publication
    VAR_016197
    Natural varianti120 – 1201F → I in CMH2. 2 Publications
    VAR_007607
    Natural varianti120 – 1201F → V in CMH2. 1 Publication
    VAR_019878
    Natural varianti140 – 1401R → C in CMH2. 1 Publication
    VAR_042747
    Natural varianti170 – 1701Missing in CMH2.
    VAR_007608
    Natural varianti173 – 1731E → K in CMH2. 1 Publication
    VAR_007609
    Natural varianti189 – 1891S → F in CMH2. 1 Publication
    VAR_016199
    Natural varianti254 – 2541E → D in CMH2. 1 Publication
    Corresponds to variant rs45466197 [ dbSNP | Ensembl ].
    VAR_007610
    Natural varianti281 – 2811N → I in CMH2. 1 Publication
    VAR_019879
    Natural varianti288 – 2881R → C in CMH2. 3 Publications
    VAR_007612
    Natural varianti288 – 2881R → P in CMH2. 2 Publications
    VAR_007613
    Natural varianti296 – 2961R → C in CMH2. 1 Publication
    VAR_019880
    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411R → W in CMD1D. 2 Publications
    VAR_043983
    Natural varianti151 – 1511R → W in CMD1D. 2 Publications
    VAR_016198
    Natural varianti210 – 2101Missing in CMD1D. 1 Publication
    VAR_022931
    Natural varianti215 – 2151R → L in CMD1D. 1 Publication
    VAR_043984
    Natural varianti220 – 2201Missing in CMD1D. 2 Publications
    VAR_043985
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi115195. phenotype.
    601494. phenotype.
    612422. phenotype.
    Orphaneti154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBiPA36638.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 298297Troponin T, cardiac musclePRO_0000186173Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserineBy similarity
    Modified residuei2 – 21Phosphoserine; by CK2By similarity
    Modified residuei204 – 2041Phosphothreonine; by PKC/PRKCABy similarity
    Modified residuei208 – 2081Phosphoserine; by PKC/PRKCABy similarity
    Modified residuei213 – 2131Phosphothreonine; by PKC/PRKCA and RAF1By similarity
    Modified residuei294 – 2941Phosphothreonine; by PKC/PRKCABy similarity

    Post-translational modificationi

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

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiP45379.
    PRIDEiP45379.

    2D gel databases

    UCD-2DPAGEP45379.

    PTM databases

    PhosphoSiteiP45379.

    Expressioni

    Tissue specificityi

    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.

    Gene expression databases

    ArrayExpressiP45379.
    BgeeiP45379.
    CleanExiHS_TNNT2.
    GenevestigatoriP45379.

    Organism-specific databases

    HPAiCAB015371.
    HPA015774.
    HPA017888.

    Interactioni

    Protein-protein interaction databases

    BioGridi112993. 7 interactions.
    IntActiP45379. 1 interaction.
    MINTiMINT-3015968.
    STRINGi9606.ENSP00000350511.

    Structurei

    Secondary structure

    1
    298
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi214 – 23118
    Helixi236 – 27944

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1J1DX-ray2.61B/E193-298[»]
    1J1EX-ray3.30B/E193-298[»]
    ProteinModelPortaliP45379.
    SMRiP45379. Positions 210-284.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP45379.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the troponin T family.Curated

    Phylogenomic databases

    eggNOGiNOG299534.
    HOGENOMiHOG000231049.
    HOVERGENiHBG052790.
    InParanoidiP45379.
    KOiK12045.
    OrthoDBiEOG7W155J.
    PhylomeDBiP45379.
    TreeFamiTF313321.

    Family and domain databases

    InterProiIPR027707. TNNT.
    IPR001978. Troponin.
    [Graphical view]
    PANTHERiPTHR11521. PTHR11521. 1 hit.
    PfamiPF00992. Troponin. 1 hit.
    [Graphical view]

    Sequences (12)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 12 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: P45379-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSDIEEVVEE YEEEEQEEAA VEEEEDWRED EDEQEEAAEE DAEAEAETEE    50
    TRAEEDEEEE EAKEAEDGPM EESKPKPRSF MPNLVPPKIP DGERVDFDDI 100
    HRKRMEKDLN ELQALIEAHF ENRKKEEEEL VSLKDRIERR RAERAEQQRI 150
    RNEREKERQN RLAEERARRE EEENRRKAED EARKKKALSN MMHFGGYIQK 200
    QAQTERKSGK RQTEREKKKK ILAERRKVLA IDHLNEDQLR EKAKELWQSI 250
    YNLEAEKFDL QEKFKQQKYE INVLRNRIND NQKVSKTRGK AKVTGRWK 298
    Length:298
    Mass (Da):35,924
    Last modified:January 23, 2007 - v3
    Checksum:i69974F2200CD5BEF
    GO
    Isoform 2 (identifier: P45379-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         23-23: Missing.

    Show »
    Length:297
    Mass (Da):35,794
    Checksum:i7A88F02291D9BFFB
    GO
    Isoform 3 (identifier: P45379-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:297
    Mass (Da):35,794
    Checksum:iD2B458D8909A0404
    GO
    Isoform 4 (identifier: P45379-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         23-23: Missing.
         54-54: Missing.

    Show »
    Length:296
    Mass (Da):35,665
    Checksum:iED0B5849847E101A
    GO
    Isoform 5 (identifier: P45379-5) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:297
    Mass (Da):35,795
    Checksum:iA19DAF593FFCC93C
    GO
    Isoform 6 (identifier: P45379-6) [UniParc]FASTAAdd to Basket

    Also known as: TNT3

    The sequence of this isoform differs from the canonical sequence as follows:
         23-32: Missing.

    Show »
    Length:288
    Mass (Da):34,590
    Checksum:iF7956C33F94255B0
    GO
    Isoform 7 (identifier: P45379-7) [UniParc]FASTAAdd to Basket

    Also known as: TNT4

    The sequence of this isoform differs from the canonical sequence as follows:
         18-32: Missing.

    Show »
    Length:283
    Mass (Da):34,091
    Checksum:iE70D862729679EF5
    GO
    Isoform 8 (identifier: P45379-8) [UniParc]FASTAAdd to Basket

    Also known as: TNT2

    The sequence of this isoform differs from the canonical sequence as follows:
         18-22: Missing.

    Show »
    Length:293
    Mass (Da):35,424
    Checksum:iD2E545EC0C3034DE
    GO
    Isoform 9 (identifier: P45379-9) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:259
    Mass (Da):31,137
    Checksum:iA0B999CC0E2005AB
    GO
    Isoform 10 (identifier: P45379-10) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:295
    Mass (Da):35,596
    Checksum:i51ADF1E637A72DDC
    GO
    Isoform 11 (identifier: P45379-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         23-32: Missing.
         201-203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:285
    Mass (Da):34,263
    Checksum:iF0547EE868527B3D
    GO
    Isoform 12 (identifier: P45379-12) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:255
    Mass (Da):30,681
    Checksum:iD20694B11931D87A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti242 – 2421K → E in CAA70840. (PubMed:9689598)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381A → V in CMH2. 1 Publication
    Corresponds to variant rs200754249 [ dbSNP | Ensembl ].
    VAR_067259
    Natural varianti80 – 801F → L in CMH2. 1 Publication
    VAR_019877
    Natural varianti89 – 891I → N in CMH2. 1 Publication
    VAR_007605
    Natural varianti102 – 1021R → L in CMH2. 1 Publication
    VAR_016195
    Natural varianti102 – 1021R → Q in CMH2. 1 Publication
    VAR_007606
    Natural varianti102 – 1021R → W in CMH2. 1 Publication
    VAR_016196
    Natural varianti104 – 1041R → L in CMH2. 1 Publication
    VAR_009194
    Natural varianti114 – 1141A → V in CMH2. 1 Publication
    VAR_016197
    Natural varianti120 – 1201F → I in CMH2. 2 Publications
    VAR_007607
    Natural varianti120 – 1201F → V in CMH2. 1 Publication
    VAR_019878
    Natural varianti139 – 1391R → K.
    VAR_013021
    Natural varianti140 – 1401R → C in CMH2. 1 Publication
    VAR_042747
    Natural varianti140 – 1401R → K.
    Corresponds to variant rs2996496 [ dbSNP | Ensembl ].
    VAR_029450
    Natural varianti141 – 1411R → W in CMD1D. 2 Publications
    VAR_043983
    Natural varianti151 – 1511R → W in CMD1D. 2 Publications
    VAR_016198
    Natural varianti170 – 1701Missing in CMH2.
    VAR_007608
    Natural varianti173 – 1731E → K in CMH2. 1 Publication
    VAR_007609
    Natural varianti189 – 1891S → F in CMH2. 1 Publication
    VAR_016199
    Natural varianti210 – 2101Missing in CMD1D. 1 Publication
    VAR_022931
    Natural varianti215 – 2151R → L in CMD1D. 1 Publication
    VAR_043984
    Natural varianti220 – 2201Missing in CMD1D. 2 Publications
    VAR_043985
    Natural varianti221 – 2211I → T.
    Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
    VAR_042748
    Natural varianti231 – 2311I → T.
    Corresponds to variant rs45520032 [ dbSNP | Ensembl ].
    VAR_057310
    Natural varianti249 – 2491S → T.
    VAR_013022
    Natural varianti254 – 2541E → D in CMH2. 1 Publication
    Corresponds to variant rs45466197 [ dbSNP | Ensembl ].
    VAR_007610
    Natural varianti263 – 2631K → R.1 Publication
    VAR_007611
    Natural varianti279 – 2791N → Y.
    Corresponds to variant rs4523540 [ dbSNP | Ensembl ].
    VAR_029451
    Natural varianti281 – 2811N → I in CMH2. 1 Publication
    VAR_019879
    Natural varianti288 – 2881R → C in CMH2. 3 Publications
    VAR_007612
    Natural varianti288 – 2881R → P in CMH2. 2 Publications
    VAR_007613
    Natural varianti296 – 2961R → C in CMH2. 1 Publication
    VAR_019880

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei18 – 3215Missing in isoform 7. 1 PublicationVSP_006642Add
    BLAST
    Alternative sequencei18 – 225Missing in isoform 8. 1 PublicationVSP_006641
    Alternative sequencei23 – 3210Missing in isoform 6 and isoform 11. 6 PublicationsVSP_006643
    Alternative sequencei23 – 231Missing in isoform 2 and isoform 4. 1 PublicationVSP_006644
    Alternative sequencei54 – 541Missing in isoform 3, isoform 4 and isoform 12. 2 PublicationsVSP_006645
    Alternative sequencei99 – 13739Missing in isoform 9 and isoform 12. 1 PublicationVSP_006646Add
    BLAST
    Alternative sequencei201 – 2033Missing in isoform 10, isoform 11 and isoform 12. 3 PublicationsVSP_006648
    Alternative sequencei201 – 2011Missing in isoform 5. 1 PublicationVSP_006647

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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
    , 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.
    CCDSiCCDS30968.1. [P45379-11]
    CCDS30969.1. [P45379-6]
    CCDS60390.1. [P45379-12]
    PIRiA54671. TPHUTC.
    RefSeqiNP_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]
    UniGeneiHs.533613.

    Genome annotation databases

    EnsembliENST00000367315; ENSP00000356284; ENSG00000118194. [P45379-11]
    ENST00000367317; ENSP00000356286; ENSG00000118194. [P45379-6]
    ENST00000367318; ENSP00000356287; ENSG00000118194. [P45379-6]
    ENST00000367320; ENSP00000356289; ENSG00000118194. [P45379-12]
    ENST00000367322; ENSP00000356291; ENSG00000118194. [P45379-11]
    ENST00000509001; ENSP00000422031; ENSG00000118194. [P45379-6]
    GeneIDi7139.
    KEGGihsa:7139.
    UCSCiuc001gwf.4. human. [P45379-1]
    uc001gwg.4. human. [P45379-11]
    uc001gwi.4. human. [P45379-3]
    uc009wzt.2. human. [P45379-6]

    Polymorphism databases

    DMDMi21264536.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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
    , 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 .
    CCDSi CCDS30968.1. [P45379-11 ]
    CCDS30969.1. [P45379-6 ]
    CCDS60390.1. [P45379-12 ]
    PIRi A54671. TPHUTC.
    RefSeqi NP_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 ]
    UniGenei Hs.533613.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1J1D X-ray 2.61 B/E 193-298 [» ]
    1J1E X-ray 3.30 B/E 193-298 [» ]
    ProteinModelPortali P45379.
    SMRi P45379. Positions 210-284.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112993. 7 interactions.
    IntActi P45379. 1 interaction.
    MINTi MINT-3015968.
    STRINGi 9606.ENSP00000350511.

    Chemistry

    ChEMBLi CHEMBL2095202.

    PTM databases

    PhosphoSitei P45379.

    Polymorphism databases

    DMDMi 21264536.

    2D gel databases

    UCD-2DPAGE P45379.

    Proteomic databases

    PaxDbi P45379.
    PRIDEi P45379.

    Protocols and materials databases

    DNASUi 7139.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367315 ; ENSP00000356284 ; ENSG00000118194 . [P45379-11 ]
    ENST00000367317 ; ENSP00000356286 ; ENSG00000118194 . [P45379-6 ]
    ENST00000367318 ; ENSP00000356287 ; ENSG00000118194 . [P45379-6 ]
    ENST00000367320 ; ENSP00000356289 ; ENSG00000118194 . [P45379-12 ]
    ENST00000367322 ; ENSP00000356291 ; ENSG00000118194 . [P45379-11 ]
    ENST00000509001 ; ENSP00000422031 ; ENSG00000118194 . [P45379-6 ]
    GeneIDi 7139.
    KEGGi hsa:7139.
    UCSCi uc001gwf.4. human. [P45379-1 ]
    uc001gwg.4. human. [P45379-11 ]
    uc001gwi.4. human. [P45379-3 ]
    uc009wzt.2. human. [P45379-6 ]

    Organism-specific databases

    CTDi 7139.
    GeneCardsi GC01M201328.
    GeneReviewsi TNNT2.
    HGNCi HGNC:11949. TNNT2.
    HPAi CAB015371.
    HPA015774.
    HPA017888.
    MIMi 115195. phenotype.
    191045. gene.
    601494. phenotype.
    612422. phenotype.
    neXtProti NX_P45379.
    Orphaneti 154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBi PA36638.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299534.
    HOGENOMi HOG000231049.
    HOVERGENi HBG052790.
    InParanoidi P45379.
    KOi K12045.
    OrthoDBi EOG7W155J.
    PhylomeDBi P45379.
    TreeFami TF313321.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    ChiTaRSi TNNT2. human.
    EvolutionaryTracei P45379.
    GeneWikii TNNT2.
    GenomeRNAii 7139.
    NextBioi 27933.
    PROi P45379.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P45379.
    Bgeei P45379.
    CleanExi HS_TNNT2.
    Genevestigatori P45379.

    Family and domain databases

    InterProi IPR027707. TNNT.
    IPR001978. Troponin.
    [Graphical view ]
    PANTHERi PTHR11521. PTHR11521. 1 hit.
    Pfami PF00992. Troponin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. Cited for: VARIANT CMD1D LYS-210 DEL.
    24. 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. "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.
    27. "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.
    28. "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.
    29. "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.
    30. "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.
    31. "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.
    32. Cited for: VARIANTS CMH2 VAL-38 AND CYS-288, VARIANTS CMD1D TRP-141 AND LYS-220 DEL.

    Entry informationi

    Entry nameiTNNT2_HUMAN
    AccessioniPrimary (citable) accession number: P45379
    Secondary accession number(s): A2TDB9
    , A8K3K6, O60214, Q99596, Q99597, Q9BUF6, Q9UM96
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 151 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3