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FLASH GENE
Symbol TNNC2 contributors: mct - updated : 24-10-2012
HGNC name troponin C type 2 (fast)
HGNC id 11944
DNA
TYPE functioning gene
STRUCTURE 4.10 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D20S908 - D20S99 - D20S169 - D20S721 - TNNC2 - D20S196 - D20S173 - qter
Authors Tiso (97),Townsend (97)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 698 18 160 - 1997 9459007
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly
 vesselaorta    Mus musculus
Digestiveliver    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac predominantly
Muscularstriatumskeletal predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans T21H3.3
Homologene
FAMILY
  • troponin C family
  • CATEGORY motor/contractile , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • acting as a fast twitch skeletal muscle regulatory protein
  • involved in regulation of muscle contraction
  • calcium-binding subunit of troponin
  • has a very low affinity for the plasma membrane Ca2+-ATPase and is a poor substitute for CALM1 in increasing the enzyme's affinity for Ca2+ and the rate of ATP hydrolysis
  • playing potentially a role in regulation of smooth muscle function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component Troponin consists of three subunits: an inhibitory subunit TNNI2, a Ca2+-binding subunit TNNC2, and TNNT2
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to isolated clubfoot
    Variant & Polymorphism SNP variants influencing risk for isolated clubfoot
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS