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Chd8 chromodomain helicase DNA binding protein 8 [ Mus musculus (house mouse) ]

Gene ID: 67772, updated on 12-May-2024

Summary

Official Symbol
Chd8provided by MGI
Official Full Name
chromodomain helicase DNA binding protein 8provided by MGI
Primary source
MGI:MGI:1915022
See related
Ensembl:ENSMUSG00000053754 AllianceGenome:MGI:1915022
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Chd-8; Duplin; HELSNF1; mKIAA1564; 5830451P18Rik
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 is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 11.5), thymus adult (RPKM 10.3) and 28 other tissues See more
Orthologs
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Genomic context

See Chd8 in Genome Data Viewer
Location:
14 C2; 14 26.84 cM
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (52435608..52495499, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (52198151..52258042, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene retinitis pigmentosa GTPase regulator interacting protein 1 Neighboring gene MRT4, mRNA turnover 4, homolog pseudogene Neighboring gene SPT16, facilitates chromatin remodeling subunit Neighboring gene STARR-positive B cell enhancer ABC_E7310 Neighboring gene STARR-seq mESC enhancer starr_36700 Neighboring gene predicted gene, 26590 Neighboring gene small nucleolar RNA, C/D box 8 Neighboring gene STARR-positive B cell enhancer ABC_E5433 Neighboring gene STARR-seq mESC enhancer starr_36702 Neighboring gene RAB2B, member RAS oncogene family Neighboring gene predicted gene, 23758 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: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables armadillo repeat domain binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-catenin binding ISO
Inferred from Sequence Orthology
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 chromatin binding ISO
Inferred from Sequence Orthology
more info
PubMed 
enables helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables methylated histone binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chromatin remodeling ISO
Inferred from Sequence Orthology
more info
 
involved_in digestive tract development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within digestive tract development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in digestive tract development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mRNA processing ISO
Inferred from Sequence Orthology
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of apoptotic process 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 ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of fibroblast apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription by RNA polymerase III ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within prepulse inhibition IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within startle response IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MLL1 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MLL1 complex ISO
Inferred from Sequence Orthology
more info
 
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
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 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
chromodomain-helicase-DNA-binding protein 8
Names
ATP-dependent helicase CHD8
axis duplication inhibitor
helicase with SNF2 domain 1
NP_963999.2
XP_011243467.3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_201637.3NP_963999.2  chromodomain-helicase-DNA-binding protein 8

    See identical proteins and their annotated locations for NP_963999.2

    Status: REVIEWED

    Source sequence(s)
    AC126037, AC159323
    Consensus CDS
    CCDS36919.1
    UniProtKB/Swiss-Prot
    Q09XV5, Q3TV89, Q5I1Z2, Q6ZPM8
    Related
    ENSMUSP00000142890.2, ENSMUST00000200169.6
    Conserved Domains (6) summary
    smart00592
    Location:23122356
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:646706
    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:832981
    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:8161103
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:11351249
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:727783
    Chromo; Chromo (CHRromatin Organization MOdifier) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    52435608..52495499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011245165.4XP_011243467.3  chromodomain-helicase-DNA-binding protein 8 isoform X1

    Conserved Domains (7) summary
    PTZ00121
    Location:449624
    PTZ00121; MAEBL; Provisional
    PLN03142
    Location:8121411
    PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
    cd18663
    Location:723781
    CD2_tandem_CHD5-9_like; repeat 2 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
    cd18668
    Location:640705
    CD1_tandem_CHD5-9_like; repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
    pfam07533
    Location:23202362
    BRK; BRK domain
    cl28899
    Location:8131034
    DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
    cl41773
    Location:61421
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001010928.1: Suppressed sequence

    Description
    NM_001010928.1: This RefSeq was permanently suppressed because the CDS was partial, and there is another valid RefSeq representing this locus.