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FLASH GENE
Symbol TNNC2 contributors: mct - updated : 24-10-2012
HGNC name troponin C type 2 (fast)
HGNC id 11944
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