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

Gene ID: 57680, updated on 5-Nov-2017
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; Vega:OTTHUMG00000170759
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
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
Location:
14q11.2
Exon count:
39
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (21385194..21437298, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21853353..21924276, 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 SPT16 homolog, facilitates chromatin remodeling subunit Neighboring gene uncharacterized LOC107984643 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 RNA, 7SL, cytoplasmic 650, pseudogene Neighboring gene RAB2B, member RAS oncogene family Neighboring gene TOX high mobility group box family member 4 Neighboring gene methyltransferase like 3

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Autism, susceptibility to, 18
MedGen: C3554373 OMIM: 615032 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-16)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-05-16)

ClinGen Genome Curation PagePubMed
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1564, DKFZp686N17164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
armadillo repeat domain binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
methylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP-dependent chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
covalent chromatin modification IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase III promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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_021249.1 RefSeqGene

    Range
    5001..57105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170629.1NP_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, AL161747, AW327785, DA327823, DB344386
    Consensus CDS
    CCDS53885.1
    UniProtKB/Swiss-Prot
    Q9HCK8
    Related
    ENSP00000382863.2, ENST00000399982.6
    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_020920.3NP_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, AW327785, BC036920, CN290520
    Consensus CDS
    CCDS45081.1
    UniProtKB/Swiss-Prot
    Q9HCK8
    Related
    ENSP00000406288.3, OTTHUMP00000244355, ENST00000430710.7, OTTHUMT00000410276
    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: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

    Range
    21385194..21437298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    21855022..21906934 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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