Gene

CHD7

Species
Homo sapiens
Symbol
CHD7
Name
chromodomain helicase DNA binding protein 7
Synonyms
  • ATP-dependent helicase CHD7
  • CHARGE association
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Involved in several processes, including face development; nervous system development; and regulation of growth hormone secretion. Located in nucleolus and nucleoplasm. Implicated in CHARGE syndrome and hypogonadotropic hypogonadism 5 with or without anosmia.
RGD Description
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46850
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
60.68M60.70M60.72M60.74M60.76M60.78M60.80M60.82M60.84M60.86M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions