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FLASH GENE
Symbol CCDC40 contributors: mct - updated : 07-10-2020
HGNC name coiled-coil domain containing 40
HGNC id 26090
Corresponding disease
ICS17 immotile cilia syndrome 17
Location 17q25.3      Physical location : 78.010.434 - 78.074.410
Synonym symbol(s) FLJ20753, KIAA1640, FLJ32021, CFAP172, CILD15, FAP172
DNA
TYPE functioning gene
STRUCTURE 63.98 kb     20 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 4288 130 1142 - 2016 25619595
18 - 3543 - 1030 - 2016 25619595
11 - 3496 - 579 - 2016 25619595
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • coiled-coil domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile , unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text localizes to motile cilia and the apical cytoplasm
    basic FUNCTION
  • required for axonemal recruitment of CCDC39
  • may act to regulate ciliary function, and is required for proper formation and/or maintenance of cilia
  • required for cilia function by acting in the cytoplasm and possibly in the cilium itself
  • plays an evolutionarily conserved role in the assembly of motile cilia and establishment of the left-right axis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS