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FLASH GENE
Symbol CC2D2A contributors: mct/npt - updated : 25-10-2011
HGNC name coiled-coil and C2 domain containing 2A
HGNC id 29253
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a calcium binding domain (C2) domain from residue 1042-1202
  • three coiled-coil domains
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text colocalizes at the basal bodies of cilia
    basic FUNCTION
  • having an important role for neuronal development, disruption of which leads to developmental delay
  • playing a critical role in cilia formation
  • implicated in cilium/basal body function
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interteracting with CEP290 (having functions in the primary cilium/basal body protein network)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRRP , MKS6 , JBTS9 , COACH1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS