CHD7
Sign in to saveAlso known as CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
gene umano
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
View on Ensembl →
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