CHD7
Sign in to saveAlso known as CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.
Gene data
CHD7- Name
- chromodomain helicase DNA binding protein 7
- Type
- protein-coding
- Position
- 60,678,715–60,868,031 (+)
- Aliases
- CRG, HH5, IS3, KAL5
- Ensembl
- ENSG00000171316
- RefSeq RNA
- NM_001316690.1, NM_017780.4, NM_017783.1, XM_011517553.3, XM_011517554.4
- RefSeq protein
- NP_001303619.1, NP_060250.2, XP_011515855.1, XP_011515856.1, XP_011515857.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
chromodomain helicase DNA binding protein 7
- Symbol
- CHD7
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:60,678,715-60,868,031
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- PDB 2ckc EBI.png
Show 9 more facts
- HomoloGene ID
- 19067
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55636
- chromosome
- human chromosome 8
- genomic start
- 60678740
- genomic end
- 61779465
- cytogenetic location
- 8q12.2
- expressed in
- embryo
- Commons category
- Chromodomain-helicase-DNA-binding protein 7
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Clinical
- References
- Further reading
- External links
Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.
CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.
Excerpted from Wikipedia’s “CHD7” article, available under the CC BY-SA 4.0 licence.