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FLASH GENE
Symbol CCDC8 contributors: mct - updated : 22-02-2012
HGNC name coiled-coil domain containing 8
HGNC id 25367
Corresponding disease
GFS3 gloomy face syndrome 3
Location 19q13.32      Physical location : 46.913.586 - 46.916.919
Synonym name
  • protein phosphatase 1, regulatory subunit 20
    • Synonym symbol(s) DKFZp564K0322, GFS3, PPP1R20, p90
    DNA
    TYPE functioning gene
    STRUCTURE 3.33 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3336 59.2 538 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Hearing/Equilibriumear    
    Reproductivefemale systemovary   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • coiled-coil domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • unique regulator for TP53, and a critical cofactor for TP53-mediated apoptosis through promoting KAT5-mediated TP53 acetylation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • physical interaction of OBSL1 with both CUL7 and CCDC8 and its potential role in the regulation of CUL7 expression suggesting all three proteins are members of the same growth-regulatory pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GFS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    by promoter region methylation in primary renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS