Version: 8.0.0
Date: Tue Jan 28 2025
TNNT2
Homo sapiensHGNC:11949
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TNNT2

Species
Homo sapiens
Symbol
TNNT2
Name
troponin T2, cardiac type
Synonyms
  • cardiac muscle troponin T
  • cardiomyopathy, dilated 1D (autosomal dominant)
Biotype
protein coding gene
Automated Description
Enables cytoskeletal protein binding activity and identical protein binding activity. Contributes to microfilament motor activity. Involved in several processes, including cardiac muscle contraction; muscle filament sliding; and ventricular cardiac muscle tissue morphogenesis. Located in cardiac myofibril and striated muscle thin filament. Part of cardiac Troponin complex. Implicated in intrinsic cardiomyopathy (multiple). Biomarker of COVID-19 and myocardial infarction.
RGD Description
This gene encodes the cardiac isoform of troponin T. The encoded protein 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. [provided by RefSeq, May 2022]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11521
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TNNT2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            TNNT2 role
            TNNT2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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