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

Gene ID: 320790, updated on 21-Sep-2021

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
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
F; L; Cy; Dz; Mt; Ob; To; Wh; Cyc; 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
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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-dependent chromatin remodeler activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
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 helicase activity IEA
Inferred from Electronic Annotation
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
 
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 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
 
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
 
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 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
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
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)

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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_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.
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