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Gene: CHD8 (chromodomain helicase DNA binding protein 8) Homo sapiens
Symbol: CHD8
Name: chromodomain helicase DNA binding protein 8
Description: Exhibits several functions, including ATP binding activity; DNA helicase activity; and beta-catenin binding activity. Involved in several processes, including ATP-dependent chromatin remodeling; negative regulation of canonical Wnt signaling pathway; and regulation of transcription, DNA-templated. Localizes to the MLL1 complex and plasma membrane. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent helicase CHD8; AUTS18; axis duplication inhibitor; beta-catenin binding protein-like; CHD-8; chromodomain-helicase-DNA-binding protein 8; DKFZp686N17164; duplin; helicase with SNF2 domain 1; HELSNF1; KIAA1564
Mus musculus (house mouse) : Chd8 (chromodomain helicase DNA binding protein 8)  MGI  Alliance
Rattus norvegicus (Norway rat) : Chd8 (chromodomain helicase DNA binding protein 8)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Chd8 (chromodomain helicase DNA binding protein 8)
Pan paniscus (bonobo/pygmy chimpanzee) : CHD8 (chromodomain helicase DNA binding protein 8)
Canis lupus familiaris (dog) : CHD8 (chromodomain helicase DNA binding protein 8)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Chd8 (chromodomain helicase DNA binding protein 8)
Sus scrofa (pig) : CHD8 (chromodomain helicase DNA binding protein 8)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl1421,385,194 - 21,456,126 (-)Ensembl
GRCh381421,385,199 - 21,456,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371421,853,353 - 21,924,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361420,923,198 - 20,975,244 (-)NCBINCBI36hg18NCBI36
Celera141,718,849 - 1,770,858 (-)NCBI
Cytogenetic Map14q11.2NCBI
HuRef141,973,207 - 2,025,186 (-)NCBIHuRef
CHM1_11421,855,022 - 21,906,934 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on CHD8
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1342489
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.