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FLASH GENE
Symbol CHD8 contributors: mct/shn - updated : 09-09-2009
HGNC name chromodomain helicase DNA binding protein 8
HGNC id 20153
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ATPase related SNF2 N terminal domain
  • HOMOLOGY
    interspecies ortholog to Chd8, Mus musculus
    ortholog to CHD8, Pan troglodytes
    ortholog to Chd8, Rattus norvegicus
    Homologene
    FAMILY
  • chromodomain helicase DNA-binding (CHD) family
  • SNF2 superfamily of ATP-dependent chromatin remodellers
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text translocated to the nucleus by interacting with importin alpha, and nuclear localization is essential for the function of Duplin
    basic FUNCTION
  • is a negative regulator of the Wnt-catenin signaling pathway
  • signaling pathway by affecting the downstream beta-catenin target genes
  • CTCF-CHD8 complex has a role in insulation and epigenetic regulation at active insulator sites
  • may possess antiapoptotic activity depending of Wnt signalling inhibition
  • prevents apoptosis mediated by the tumour suppressor protein p53
  • associates with ZNF143 and contributes to efficient U6 RNA polymerase III transcription
  • may be functioning in transcription through the ATP-dependent modulation of chromatin structure
  • alters HOXA2 gene expression and regulates the recruitment of chromatin modifying enzymes
  • represses ATRA mediated HOXA2 gene expression
  • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the chromatin remodeling complex
  • role of CTCF-CHD8 complex in insulation and epigenetic regulation at active insulator sites
  • part of a CHD8/WDR5/ASH2L/RBBP5 complex
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • p53 and Histone H1
  • insulator-binding protein CTCF
  • elongating RNA polymerase II (RNAPII) and controls expression of the cyclin E2 gene (CCNE2)
  • associates with several proteins linked to chromatin modification, among them chromodomain-helicase-DNA binding protein 8 (CHD8)
  • interacts with several proteins including the WAR complex
  • CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins (loss of the direct CHD7CHD8 interaction might change the conformation of a possible CHD7CHD8 containing complex, which might be a disease mechanism in CHARGE syndrome)
  • interacts directly with WDR5, a component of the histone H3 Lys-4 methyltransferase MLL complex
  • interacts directly with beta-catenin and is also recruited specifically to the promoter regions of several beta-catenin-responsive genes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Chd8/ mouse embryos was arrested at gastrulation and died early during embryogenesis, manifesting widespread apoptosis, whereas deletion of p53 ameliorated this developmental arrest
  • Chd8 +/- mice appeared normal and were fertile