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

    Gene ID: 320790, updated on 25-Apr-2017
    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 Vega:OTTMUSG00000004417
    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]
    Orthologs
    Location:
    4 A1; 4 3.68 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (8690406..8868449)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (8618068..8793957)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene predicted gene 8273 Neighboring gene PRP3 pre-mRNA processing factor 3 homolog pseudogene Neighboring gene predicted gene, 46841 Neighboring gene predicted gene, 46842 Neighboring gene ribosomal protein S18, pseudogene 2

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aorta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    aorta morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    artery morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    atrioventricular canal development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    central nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition ISO
    Inferred from Sequence Orthology
    more info
     
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    cranial nerve development ISO
    Inferred from Sequence Orthology
    more info
     
    ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    face development ISO
    Inferred from Sequence Orthology
    more info
     
    female genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    genitalia development ISO
    Inferred from Sequence Orthology
    more info
     
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    innervation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    limb development ISO
    Inferred from Sequence Orthology
    more info
     
    locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nose development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nose development ISO
    Inferred from Sequence Orthology
    more info
     
    olfactory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    olfactory bulb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    olfactory nerve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    palate development ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of multicellular organism growth 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 
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of growth hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    right ventricular compact myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    semicircular canal morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system development ISO
    Inferred from Sequence Orthology
    more info
     
    tissue remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular trabecula myocardium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    chromodomain-helicase-DNA-binding protein 7
    Names
    ATP-dependent helicase CHD7
    NP_001264078.1
    XP_006538067.1
    XP_006538068.1
    XP_006538069.1
    XP_017175752.1

    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

      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 (8) summary
      smart00592
      Location:26312675
      BRK; domain in transcription and CHROMO domain helicases
      cd00046
      Location:9771126
      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.
      pfam08430
      Location:300423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:15404
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9611248
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12801394
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:873925
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25532593
      BRK; BRK domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      8690406..8868449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538005.3XP_006538068.1  chromodomain-helicase-DNA-binding protein 7 isoform X2

      See identical proteins and their annotated locations for XP_006538068.1

      Conserved Domains (8) summary
      smart00592
      Location:26302674
      BRK; domain in transcription and CHROMO domain helicases
      cd00046
      Location:9771126
      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.
      pfam08430
      Location:300423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:15404
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9611248
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12801394
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:873925
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25522592
      BRK; BRK domain
    2. XM_006538004.3XP_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
      ENSMUSP00000059079.3, OTTMUSP00000004792, ENSMUST00000051558.9, OTTMUST00000010005
      Conserved Domains (8) summary
      smart00592
      Location:26312675
      BRK; domain in transcription and CHROMO domain helicases
      cd00046
      Location:9771126
      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.
      pfam08430
      Location:300423
      Forkhead_N; Forkhead N-terminal region
      pfam09606
      Location:15404
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00176
      Location:9611248
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:12801394
      Helicase_C; Helicase conserved C-terminal domain
      pfam00385
      Location:873925
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam07533
      Location:25532593
      BRK; BRK domain
    3. XM_017320263.1XP_017175752.1  chromodomain-helicase-DNA-binding protein 7 isoform X4

    4. 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
      pfam00271
      Location:46160
      Helicase_C; Helicase conserved C-terminal domain
      pfam07533
      Location:13191359
      BRK; BRK domain

    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.
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