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FLASH GENE
Symbol C2CD3 contributors: mct - updated : 24-08-2017
HGNC name C2 calcium-dependent domain containing 3
HGNC id 24564
Corresponding disease
OFD14 orofaciodigital syndrome XIV
Location 11q13.4      Physical location : 73.745.479 - 73.882.064
Synonym name C2 domain-containing protein 3
Synonym symbol(s) DKFZP586P0123, FLJ34770
DNA
TYPE functioning gene
STRUCTURE 158.63 kb     31 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
33 - 7960 - 2353 - 2014 24997988
31 - 6285 218 1963 - 2014 24997988
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C2 calcium-dependent domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • is localized proximal to the ciliary axoneme
  • basic FUNCTION
  • also localized to the distal ends of both mother and daughter centrioles and is required for the recruitment of five centriolar distal appendage proteins
  • regulates likely cilium biogenesis by promoting the assembly of centriolar distal appendages critical for docking ciliary vesicles and recruiting other essential ciliogenic proteins
  • is important for docking the mother centriole to the ciliary vesicle and cell membrane
  • required for complete centriole formation in human cells
  • role for C2CD3 in basal body maturation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is also required for recruiting the intraflagellar transport proteins IFT88 and IFT52 to the mother centriole
  • physically associates with OFD1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OFD14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS