Gene
chd8
- ID
- ZDB-GENE-030131-6320
- Name
- chromodomain helicase DNA binding protein 8
- Symbol
- chd8 Nomenclature History
- Previous Names
-
- si:ch211-10e2.6 (1)
- wu:fi45h08
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have several functions, including ATP binding activity; beta-catenin binding activity; and p53 binding activity. Involved in negative regulation of neural precursor cell proliferation and nervous system development. Predicted to localize to MLL1 complex. Is expressed in blastomere; brain; gut; head; and spinal cord. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human CHD8 (chromodomain helicase DNA binding protein 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Bernier et al., 2014
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Intellectual developmental disorder with autism and macrocephaly | 615032 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000330 | SNF2, N-terminal |
| Domain | IPR000953 | Chromo/chromo shadow domain |
| Domain | IPR001650 | Helicase, C-terminal |
| Domain | IPR006576 | BRK domain |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR023780 | Chromo domain |
| Family | IPR034724 | Chromodomain-helicase-DNA-binding protein 8 |
| Homologous_superfamily | IPR016197 | Chromo-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR037259 | BRK domain superfamily |
| Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | BRK domain | BRK domain superfamily | Chromo/chromo shadow domain | Chromo domain | Chromodomain-helicase-DNA-binding protein 8 | Chromo-like domain superfamily | Helicase, C-terminal | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B0R0I6
|
2511 | |||||||||||
|
UniProtKB:A0A2R8PZ65
|
2097 | |||||||||||
|
UniProtKB:F1QW70
|
2231 | |||||||||||
|
UniProtKB:E7FH24
|
2555 |
Interactions and Pathways
No data available
Plasmids
No data available