CHD8 Gene Summary [Human]
This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | CHD8 |
| Official Name | chromodomain helicase DNA binding protein 8 [Source:HGNC Symbol;Acc:HGNC:20153] |
| Ensembl ID | ENSG00000100888 |
| Bio databases IDs | |
| Aliases | chromodomain helicase DNA binding protein 8 |
| Synonyms | 5830451P18Rik, AU015341, AUTS18, chromodomain helicase DNA binding protein 8, DUPLIN, HELSNF1, IDDAM, KIAA1564, mKIAA1564 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHD8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Chromatin organization modifier domain
- Family of unknown function (DUF5585)
- ATP binding
- protein binding activity, bridging
- chromatin binding
- enzyme
- Helicase conserved C-terminal domain
- BRK domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
- P-loop containing Nucleoside Triphosphate Hydrolases
- beta-catenin binding domain
- histone binding
- beta-catenin binding
- helicase superfamily c-terminal domain
- DEAD/DEAH box helicase
- SNF2-related domain
- nuclear localization sequence
- protein domain specific binding
- protein binding
- p53 binding
- DNA dependent ATPase
- DNA binding
- CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains
- Class II histone deacetylase complex subunits 2 and 3
- Chromo (CHRromatin organization MOdifier) domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- intellectual developmental disorder with autism and macrocephaly
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- hereditary disorder
- macrocephaly
- mental retardation
- pervasive developmental disorder
- CHD8-related disorder
- autism
role in cell
- proliferation
- expression in
- apoptosis
- quantity
- number
- derepression in
- remodeling
- dipeptide repeat protein sensitivity
- recruitment in
- pluripotency
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHD8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- negative regulation of fibroblast apoptotic process
- prepulse inhibition
- mRNA processing
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase III promoter
- negative regulation of canonical Wnt receptor signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- digestive tract development
- DNA duplex unwinding
- Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- macromolecular complex
- chromatin
- MLL1 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- DNA helicase activity
- p53 binding
- protein binding
- histone binding
- methylated histone residue binding
- chromatin binding
- beta-catenin binding