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FLASH GENE
Symbol TNNT2 contributors: mct/npt/pgu - updated : 23-08-2011
HGNC name troponin T2, cardiac
HGNC id 11949
Corresponding disease
CMD1D cardiomyopathy, dilated 1D
CMH2 cardiomyopathy, familial, hypertrophic, 2
RCM3 cardiomyopathy, familial restrictive 3
Location 1q32.1      Physical location : 201.328.142 - 201.346.805
Synonym symbol(s) CMH2, CMPD2, MGC3889, TnTC, cTnT, fTnT
DNA
TYPE functioning gene
STRUCTURE 18.66 kb     16 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
KIF14 1pter-q31.3 kinesin family member 14 DKFZP564B1023 1q31.3 hypothetical protein DKFZp564B1023 KIAA1078 1q32.1 KIAA1078 protein GPR25 1q32.1 G protein-coupled receptor 25 FLJ10901 1q32.1 hypothetical protein FLJ10901 KIF21B 1pter-q31.3 kinesin family member 21B CACNA1S 1q32 calcium channel, voltage-dependent, L type, alpha 1S subunit TMEM9 1q41 transmembrane protein 9 LOC388724 1 similar to hypothetical protein FLJ37794 DKFZp434B1231 1q32.1 eEF1A2 binding protein PKP1 1q32 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) TNNT2 1q32 troponin T2, cardiac LAD1 1q25.1-q32.3 ladinin 1 TNNI1 1q31.3 troponin I, skeletal, slow PHLDA3 1q31.3-q32.1 pleckstrin homology-like domain, family A, member 3 CSRP1 1q32.1 cysteine and glycine-rich protein 1 LOC388725 1 similar to mKIAA1151 protein NAV1 1q32.1 neuron navigator 1 IPO9 1q31.3 importin 9 LOC149345 LMOD1 1q32 leiomodin 1 (smooth muscle) TIMM17A 1q31.3-q32 translocase of inner mitochondrial membrane 17 homolog A (yeast) LOC391151 1 similar to 60S ribosomal protein L10 (QM protein homolog) RNPEP 1q32.1-q32.2 arginyl aminopeptidase (aminopeptidase B) ELF3 1q32.2 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ET(B)R-LP-2 1q32.1 endothelin type b receptor-like protein 2 LOC127829 PTPN7 1q32.1 protein tyrosine phosphatase, non-receptor type 7 LOC388726 1 similar to osteotesticular protein tyrosine phosphatase LOC148713 1q32.1 similar to Osteotesticular phosphatase; protein tyrosine phosphatase, receptor type, V LGR6 1q32.1 leucine-rich repeat-containing G protein-coupled receptor 6
RNA
TRANSCRIPTS type messenger
text alternative splicing resulting in the production of multiple tissue-specific isoforms
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 splicing 1153 - 295 - 2007 18037101
16 splicing 1132 - 288 - 2007 18037101
15 splicing 1123 - 285 - 2007 18037101
15 splicing 1114 - 282 - 2007 18037101
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   moderately
Endocrineadrenal gland   highly
Respiratoryrespiratory tractlarynx  highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Muscularstriatumcardiac  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text early fetal heart, which occurs at different times in atria and ventricles
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