Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Chd7. (This text reflects annotations as of Tuesday, May 21, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of May 25, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

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. The related gene in humans has been implicated in CHARGE syndrome. [provided by RefSeq, Mar 2013]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Chd7
  • participates in the following biological processes:
    • adult heart development ^[1]
    • adult walking behavior ^[1]
    • blood circulation ^[1]
    • blood vessel development ^[1]
    • camera-type eye development ^[1]
    • ear morphogenesis ^[3]
    • embryonic hindlimb morphogenesis ^[1]
    • female genitalia development ^[1]
    • heart morphogenesis ^[1]
    • in utero embryonic development ^[1]
    • inner ear morphogenesis ^[4]
    • locomotory behavior ^[3]
    • nose development ^[1]
    • palate development ^[1]
    • positive regulation of multicellular organism growth ^[1]
    • sensory perception of sound ^[3]
• Researchers have inferred, based on genetic interactions, that the gene product of Chd7
  • participates in the following biological processes:
    • artery morphogenesis based on interactions with Tbx1 ^[5]
    • semicircular canal morphogenesis based on interactions with Tbx1 ^[5]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Chd7:
  • participates in the following biological processes:
    • central nervous system development
    • cognition
    • cranial nerve development
    • face development
    • genitalia development
    • heart morphogenesis
    • in utero embryonic development
    • inner ear morphogenesis
    • limb development
    • nose development
    • palate development
    • regulation of growth hormone secretion
    • retina development in camera-type eye
    • skeletal system development
    • T cell differentiation
  • is located in the following cellular components:
    • nucleus

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Summary text based on GO annotations supported by structural data

• Chd7 encodes a protein or proteins that contain the following InterPro domains: BRK domain, Chromo domain, Chromo domain-like, Chromo domain/shadow, Helicase, C-terminal, Helicase, superfamily 1/2, ATP-binding domain, SANT/Myb domain, SNF2-related, indicating that the gene product:
  • performs the following molecular functions:
    • ATP binding
    • chromatin binding
    • DNA binding
    • helicase activity
    • hydrolase activity, acting on acid anhydrides
    • nucleic acid binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Chd7 indicates that it:
  • participates in the following biological processes:
    • chromatin modification
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • ATP binding
    • DNA binding
    • helicase activity
    • hydrolase activity
    • nucleotide binding

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References

1. Bosman EA et al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet, 14:3463-76. (PubMed:16207732)
2. Engelen E et al. (2011) Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet, 43:607-11. (PubMed:21532573)
3. Nolan PM et al. (2000) A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet, 25:440-3. (PubMed:10932191)
4. Pau H et al. (2004) Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. Otol Neurotol, 25:707-13. (PubMed:15353999)
5. Randall V et al. (2009) Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest, 119:3301-10. (PubMed:19855134)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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