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. Human ortholog(s) of this gene implicated in autistic disorder. Is expressed in blastomere; brain; gut; head; and spinal cord. 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