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FLASH GENE
Symbol CHD8 contributors: mct/shn - updated : 15-11-2023
HGNC name chromodomain helicase DNA binding protein 8
HGNC id 20153
Location 14q11.2      Physical location : 21.853.353 - 21.905.457
Synonym name
  • helicase with SNF2 domain 1
  • ATP-dependent helicase CHD8
  • axis duplication inhibitor
  • beta-catenin binding protein-like
  • duplin
    • Synonym symbol(s) KIAA1564, HELSNF1, DUPLIN, DKFZp686N17164, AUTS18, IDDAM
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 52.11 kb     38 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    Map cen - D14S1023 - D14S1070 - CHD8 - D14S1003 - D14S742 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 7499 240 2302 - 2023 37802044
    37 - 8254 - 2581 - 2023 37802044
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text expressed at a high level during early embryogenesis
    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,nucleoplasm
    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–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
    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 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
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Chiari I malformation (CM1)
    Variant & Polymorphism other
  • de novo mutations in CHD8 among individuals with CM1
    • 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
  • Complete loss of Chd8 causes embryonic lethality in mice as a result of TP53-mediated apoptosis