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FLASH GENE
Symbol TNNI3 contributors: SGE/npt - updated : 06-04-2010
HGNC name troponin I type 3 (cardiac)
HGNC id 11947
Corresponding disease
CMD1FF cardiomyopathy, dilated, 1FF
CMH7 cardiomyopathy familial, hypertrophic, 7
Location 19q13.42      Physical location : 55.663.136 - 55.669.100
Synonym name
  • troponin I3, inhibitory subunit
  • familial hypertrophic cardiomyopathy 7
  • cardiac troponin I
  • troponin I, cardiac muscle
  • Synonym symbol(s) TNNCI, TNNC1, CMH7, cTnI, CMD2A, MGC116817, RCMI, CMD1FF, MGC116817
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text organized in pair with TNNT1
    STRUCTURE 5.97 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure binding sites in the proximal promoter, a CACC box sequence and a consensus Sp1 element (HCB1 and HCB2)
    MAPPING cloned Y linked N status confirmed
    Map cen - D19S891 - D19S210 - D19S218 - TNNI3 ,D19S890 - qter
    Authors Mogensen (98)
    Physical map
    LOC388562 19 similar to 1060P11.4.2 (killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (isoform 2) (KIR103-AS)) KIR3DL1 19q13.4 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR2DS4 19q13.4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 FCAR 19q13.4 Fc fragment of IgA, receptor for NCR1 19q13.42 natural cytotoxicity triggering receptor 1 NALP7 19q13.42 NACHT, leucine rich repeat and PYD containing 7 NALP2 19q13.42 NACHT, leucine rich repeat and PYD containing 7 GP6 19q13.4 glycoprotein VI (platelet) RDH13 19q13.42 retinol dehydrogenase 13 (all-trans and 9-cis) EPS8L1 19q13.42 EPS8-like 1 PPP1R12C 19q13.42 protein phosphatase 1, regulatory (inhibitor) subunit 12C TNNT1 19q13.4 troponin T1, skeletal, slow TNNI3 19q13.4 troponin I, cardiac LOC352909 19q13.4 similar to hypothetical testis protein from macaque SYT5 19q13.4 synaptotagmin V PTPRH 19q13.4 protein tyrosine phosphatase, receptor type, H LOC388563 19 LOC388563 MGC30208 19q13.42 hypothetical protein MGC30208 KIAA1115 19q13.42 KIAA1115 HSPBP1 19q13.42 hsp70-interacting protein KIAA1811 19q13.4 KIAA1811 protein LOC284417 19q13.42 similar to BC022651 protein MGC2705 19q13.42 hypothetical protein MGC2705 COXVIB2 19q13.42 cytochrome c oxidase subunit VIb, testes-specific MGC35045 19q13.42 hypothetical protein MGC35045 IL11 19q13.4 interleukin 11 MDAC1 19q13.42 MDAC1 LOC388564 19 hypothetical gene supported by BC052596 RPL28 19q13.4 ribosomal protein L28
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 866 24 210 - Vallins (1990)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP , Other
    HOMOLOGY
    interspecies homolog to murine Tnni3 (93.3pc)
    homolog to rattus Tnni3 (93.3pc)
    Homologene
    FAMILY
  • troponin I family
  • CATEGORY motor/contractile , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in the regulation of heart
  • involved in the regulation of muscle contraction
  • calcium channel inhibitory activity
  • blocking actin-myosin interactions and thereby mediating striated muscle relaxation
  • participates in proper stabilization of tropomyosin in the Ca2+-activated state (Galinska 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text muscle development
    PATHWAY
    metabolism
    signaling
    a component
  • inhibitory subunit of the troponin complex of the thin filaments of striated muscle
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to actin-tropomyosin
  • interactng with TRIM63
  • binding to DSCR1L2 (Canaider 2006)
  • cell & other
    REGULATION
    Other phosphorylated by STK4 (You 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH7 , CMD1FF
    related resource FHCMutationDatabase
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • two novel missense mutations (Lys36Gln, Asn185Lys) causing autosomal dominant dilated cardiomyopathy (Carballo 2009)
  • combination of elevated CRP and TNNI3 increase the risk of adverse cardiac events (Huang 2009)
  • elevated TNNI3 levels are significantly associated with short- and long-term mortality in ESRD patients with sepsis (Kang 2009)
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquired 
    may be a useful tool in identifying patients with heart failure who are at increased risk for progressive ventricular dysfunction and death
    ANIMAL & CELL MODELS