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Symbol CHD8 contributors: mct/shn - updated : 15-11-2023
HGNC name chromodomain helicase DNA binding protein 8
HGNC id 20153
  • ATPase related SNF2 N terminal domain
    interspecies ortholog to Chd8, Mus musculus
    ortholog to CHD8, Pan troglodytes
    ortholog to Chd8, Rattus norvegicus
  • chromodomain helicase DNA-binding (CHD) family
  • SNF2 superfamily of ATP-dependent chromatin remodellers
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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–â-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
  • ATP-dependent chromatin remodeler that regulates the expression of many genes
  • 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
  • essential role of CHD8 in E2F-dependent transcription activation
  • CHD8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling
  • key role for CHD8 in cerebellar development, with important implications for understanding the contribution of this brain region to autism spectrum disorder (ASD) pathogenesis
  • transcriptional regulator that is expressed in nearly all cell types and has been implicated in multiple cellular processes, including cell cycle, cell adhesion, neuronal development, myelination, and synaptogenesis
  • CHD8 plays an essential role in the pluripotency exit and neuroectoderm differentiation as well as the regulation of apoptosis during neurogenesis
  • CHD8 is essential for erythroblast cytokinesis
  • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    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
    DNA binding
    small molecule
  • 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 directly with beta-catenin and is also recruited specifically to the promoter regions of several beta-catenin-responsive genes
  • 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 CHD7–CHD8 interaction might change the conformation of a possible CHD7–CHD8 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
  • FAM124B is a potential interacting partner of a CHD7 and CHD8 containing complex
  • CHD8 binds E2F-dependent promoters at the G1/S transition but not in quiescent cells
  • CHD8 is involved in late stages of progesterone receptor (PR) enhancers activation
  • cell & other
    corresponding disease(s)
    Susceptibility to Chiari I malformation (CM1)
    Variant & Polymorphism other
  • de novo mutations in CHD8 among individuals with CM1
  • Candidate gene
    Therapy target
  • 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
  • Complete loss of Chd8 causes embryonic lethality in mice as a result of TP53-mediated apoptosis