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    Chd7 chromodomain helicase DNA binding protein 7 [ Mus musculus (house mouse) ]

    Gene ID: 320790, updated on 19-May-2022

    Summary

    Official Symbol
    Chd7provided by MGI
    Official Full Name
    chromodomain helicase DNA binding protein 7provided by MGI
    Primary source
    MGI:MGI:2444748
    See related
    Ensembl:ENSMUSG00000041235 AllianceGenome:MGI:2444748
    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
    Dz; Mt; Cyn; Edy; Flo; Lda; Obt; Whi; Cycn; Todo; WBE1; metis; GENA 47; GENA 60; Gena 52; A730019I05Rik
    Summary
    This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in CNS E11.5 (RPKM 14.2), cerebellum adult (RPKM 11.8) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Chd7 in Genome Data Viewer
    Location:
    4 A1; 4 3.68 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (8690345..8868449)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (8690402..8868449)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (8618068..8793957)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54231 Neighboring gene PRP3 pre-mRNA processing factor 3 homolog pseudogene Neighboring gene predicted gene, 46841 Neighboring gene predicted gene, 54232 Neighboring gene predicted gene, 46842 Neighboring gene ribosomal protein S18, pseudogene 2

    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?

    Phenotypes

    Associated conditions

    Description Tests
    cyclone
    GeneReviews: Not available
    dizzy
    GeneReviews: Not available
    eddy
    GeneReviews: Not available
    leda
    GeneReviews: Not available
    orbitor
    GeneReviews: Not available
    tornado
    GeneReviews: Not available
    whirligig
    GeneReviews: Not available

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP-dependent chromatin remodeler activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within aorta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within artery morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within atrioventricular canal development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in central nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chordate embryonic development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    acts_upstream_of_or_within chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cognition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cranial nerve development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cranial nerve development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in face development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within female genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in genitalia development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart morphogenesis 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 in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inner ear morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within innervation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in limb development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within nose development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nose development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within olfactory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within olfactory bulb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within olfactory nerve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of growth hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to bacterium IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within right ventricular compact myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in secondary palate development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within semicircular canal morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal system development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within tissue remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    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
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 7
    Names
    ATP-dependent helicase CHD7
    NP_001264078.1
    NP_001342311.1
    XP_006538067.1
    XP_006538068.1
    XP_006538069.1

    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.

    mRNA and Protein(s)

    1. NM_001277149.1NP_001264078.1  chromodomain-helicase-DNA-binding protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001264078.1

      Status: REVIEWED

      Source sequence(s)
      AL732627, AL805903
      Consensus CDS
      CCDS38689.1
      UniProtKB/Swiss-Prot
      A2AJK6
      Conserved Domains (6) summary
      smart00592
      Location:26312675
      BRK; domain in transcription and CHROMO domain helicases
      PLN03142
      Location:9571556
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd18663
      Location:869926
      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:786850
      CD1_tandem_CHD5-9_like; repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
      pfam03157
      Location:23553
      Glutenin_hmw; High molecular weight glutenin subunit
      pfam07533
      Location:25522593
      BRK; BRK domain
    2. NM_001355382.1NP_001342311.1  chromodomain-helicase-DNA-binding protein 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL732627, AL805903, CD540105, CJ102897, CN717040
      Conserved Domains (3) summary
      smart00592
      Location:13961440
      BRK; domain in transcription and CHROMO domain helicases
      pfam07533
      Location:13181358
      BRK; BRK domain
      cl26465
      Location:2322
      SNF2_N; SNF2 family N-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      8690345..8868449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538005.5XP_006538068.1  chromodomain-helicase-DNA-binding protein 7 isoform X2

      See identical proteins and their annotated locations for XP_006538068.1

      Conserved Domains (6) summary
      smart00592
      Location:26302674
      BRK; domain in transcription and CHROMO domain helicases
      PLN03142
      Location:9571556
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd18663
      Location:869926
      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:786850
      CD1_tandem_CHD5-9_like; repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
      pfam03157
      Location:23553
      Glutenin_hmw; High molecular weight glutenin subunit
      pfam07533
      Location:25512592
      BRK; BRK domain
    2. XM_006538004.5XP_006538067.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

      See identical proteins and their annotated locations for XP_006538067.1

      UniProtKB/Swiss-Prot
      A2AJK6
      Related
      ENSMUSP00000059079.4, ENSMUST00000051558.10
      Conserved Domains (6) summary
      smart00592
      Location:26312675
      BRK; domain in transcription and CHROMO domain helicases
      PLN03142
      Location:9571556
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd18663
      Location:869926
      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:786850
      CD1_tandem_CHD5-9_like; repeat 1 of the paired tandem chromodomains of chromodomain helicase DNA-binding protein 5-9, and similar proteins
      pfam03157
      Location:23553
      Glutenin_hmw; High molecular weight glutenin subunit
      pfam07533
      Location:25522593
      BRK; BRK domain
    3. XM_006538006.3XP_006538069.1  chromodomain-helicase-DNA-binding protein 7 isoform X3

      Conserved Domains (3) summary
      smart00592
      Location:13971441
      BRK; domain in transcription and CHROMO domain helicases
      PLN03142
      Location:2322
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      pfam07533
      Location:13181359
      BRK; BRK domain

    RNA

    1. XR_004941924.1 RNA Sequence

    2. XR_004941925.1 RNA Sequence

    3. XR_003954972.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001033395.1: Suppressed sequence

      Description
      NM_001033395.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_001081417.1: Suppressed sequence

      Description
      NM_001081417.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.