Version: 8.0.0
Date: Tue Jan 28 2025
TNNI3
Homo sapiensHGNC:11947
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TNNI3

Species
Homo sapiens
Symbol
TNNI3
Name
troponin I3, cardiac type
Synonyms
  • cardiac troponin I
  • cardiomyopathy, dilated 2A (autosomal recessive)
Biotype
protein coding gene
Automated Description
Enables several functions, including calcium channel inhibitor activity; calcium-dependent protein binding activity; and cytoskeletal protein binding activity. Involved in several processes, including cardiac muscle contraction; regulation of cardiac muscle contraction by calcium ion signaling; and ventricular cardiac muscle tissue morphogenesis. Located in cardiac myofibril. Part of cardiac Troponin complex. Implicated in intrinsic cardiomyopathy (multiple). Biomarker of coronary artery disease.
RGD Description
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13738
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
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
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      Transgenic Alleles

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

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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

          TNNI3 molecule type
          Interactor gene
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            Genetic Interactions

            TNNI3 role
            TNNI3 genetic perturbation
            Interactor gene
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            Phenotype or trait
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