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FLASH GENE
Symbol TNNT2 contributors: mct/npt/pgu - updated : 23-08-2011
HGNC name troponin T2, cardiac
HGNC id 11949
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a highly conserved PKA docking site
    • HOMOLOGY
    interspecies ortholog to murine Tnnt2
    Homologene
    FAMILY
  • troponin T family
    • CATEGORY motor/contractile , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text sarcomeric protein
    basic FUNCTION
  • involved in the attachment of the complex to tropomyosin and troponin I, for sarcomere assembly and cardiac contractility
  • regulating striated muscle contraction in response to alterations in intracellular calcium concentration
  • may be responsive to myocardial stress and its elevated levels may contribute to myocardial dysfunction in adult disease
  • playing potentially a role in regulation of smooth muscle function
  • novel role for TNNT2 as a dual-specificity sarcomeric AKAP (A-kinase anchoring protein)
  • has an important role in regulating cardiac contractility
  • plays a pivotal regulatory role in the Ca(2+)-mediated interaction between actin thin filament and myosin thick filament
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration
  • Troponin consists of three subunits: an inhibitory subunit TNNI2, a Ca2+-binding subunit TNNC2, and TNNT2
  • complex with TPM1, TNNI3 within the sarcomere
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to TPM1 and TNNI3
  • interacting with both PKA-regulatory subunits type I and II (PRKAR1A and PRKAR2A) at the myofilaments
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1D , CMH2 , RCM3
    related resource FHCMutationDatabase
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in end-stage heart failure
    constitutional     --over  
    of TNNT2 and NPPB are associated with increased risk of cardioembolic and other nonlacunar ischemic strokes
    Susceptibility
  • to prominent left ventricular hypertrophy
  • to idiopathic dilated cardiomyopathy
    • Variant & Polymorphism insertion/deletion
  • five-base pair insertion/deletion polymorphism in intron 3, associated to prominent left ventricular hypertrophy
  • mutated in idiopathic dilated cardiomyopathy
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • iIn mice, targeted disruption of Tnnt2 causes severe defects of myofibrillogenesis, which leads to early embryonic demise