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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Endocrinepancreas   highly
Nervousnerve   highly
Reproductivemale systemprostate  highly
Respiratorylung   highly
Urinarykidney   highly
Visualeyeretina  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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