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    CHD8 chromodomain helicase DNA binding protein 8 [ Homo sapiens (human) ]

    Gene ID: 57680, updated on 17-Jun-2024

    Summary

    Official Symbol
    CHD8provided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 8provided by HGNC
    Primary source
    HGNC:HGNC:20153
    See related
    Ensembl:ENSG00000100888 MIM:610528; AllianceGenome:HGNC:20153
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IDDAM; AUTS18; HELSNF1
    Summary
    This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CHD8 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (21385199..21456123, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15582676..15653513, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21853358..21924282, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RPGR interacting protein 1 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:21777043-21777570 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21817331-21817510 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21820143-21821342 Neighboring gene SPT16 homolog, facilitates chromatin remodeling subunit Neighboring gene uncharacterized LOC107984643 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21859227-21860426 Neighboring gene small nucleolar RNA, C/D box 9 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 Neighboring gene small nucleolar RNA, C/D box 8 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21905321-21905864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8103 Neighboring gene RNA, 7SL, cytoplasmic 650, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21910077-21910995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21920455-21920954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21924579-21925130 Neighboring gene uncharacterized LOC124903283 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21925131-21925682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8108 Neighboring gene RAB2B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8110 Neighboring gene TOX high mobility group box family member 4 Neighboring gene methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-04-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-04-25)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1564, DKFZp686N17164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent chromatin remodeler activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent chromatin remodeler activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in digestive tract development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibroblast apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase III IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of MLL1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 8
    Names
    ATP-dependent helicase CHD8
    axis duplication inhibitor
    duplin
    helicase with SNF2 domain 1
    NP_001164100.1
    NP_065971.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021249.2 RefSeqGene

      Range
      5000..75924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170629.2NP_001164100.1  chromodomain-helicase-DNA-binding protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001164100.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB046784, AK122910, AL161747, BC036920
      Consensus CDS
      CCDS53885.1
      UniProtKB/Swiss-Prot
      Q4G0D8, Q68DQ0, Q6DKH9, Q6P440, Q6ZNL7, Q8N3Z9, Q8NCY4, Q8TBR9, Q96F26, Q9HCK8
      Related
      ENSP00000495240.1, ENST00000646647.2
      Conserved Domains (6) summary
      smart00592
      Location:23102354
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:644704
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:830979
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:8141101
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:11331247
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:725781
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
    2. NM_020920.4NP_065971.2  chromodomain-helicase-DNA-binding protein 8 isoform 2

      See identical proteins and their annotated locations for NP_065971.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and has a distinct 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB046784, AK122910, AL834524, BC036920, CN290520
      Consensus CDS
      CCDS45081.1
      UniProtKB/Swiss-Prot
      Q9HCK8
      Related
      ENSP00000406288.3, ENST00000430710.8
      Conserved Domains (6) summary
      smart00592
      Location:20312075
      BRK; domain in transcription and CHROMO domain helicases
      cd00024
      Location:365425
      CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
      cd00046
      Location:551700
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      pfam00176
      Location:535822
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:854968
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:446502
      Chromo; Chromo (CHRromatin Organization MOdifier) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      21385199..21456123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      15582676..15653513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)