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 enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Involved in negative regulation of neural precursor cell proliferation and nervous system development. Acts upstream of or within head development. Predicted to be part of MLL1 complex. Predicted to be active in chromatin and nucleus. 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
- 2 figures from 2 publications
- 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-like |
| Domain | IPR006576 | BRK domain |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR023780 | Chromo domain |
| Domain | IPR049730 | SNF2/RAD5-like, C-terminal helicase domain |
| Family | IPR034724 | Chromodomain-helicase-DNA-binding protein 8 |
| Family | IPR051493 | Chromodomain-helicase-DNA-binding |
| 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 | Chromodomain-helicase-DNA-binding protein 8 | Chromo-like domain superfamily | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B0R0I6
|
2511 | |||||||||||||
|
UniProtKB:E7FH24
|
2555 | |||||||||||||
|
UniProtKB:A0A8M9QGD7
|
2554 |
Interactions and Pathways
No data available
Plasmids
No data available