Gene
chd2
- ID
- ZDB-GENE-050419-256
- Name
- chromodomain helicase DNA binding protein 2
- Symbol
- chd2 Nomenclature History
- Previous Names
-
- si:ch211-196l7.5
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity. Acts upstream of or within chordate embryonic development and locomotion. Predicted to be active in chromatin and nucleus. Is expressed in bone tissue; brain; heart; hematopoietic multipotent progenitor cell; and kidney. Used to study myoclonic-atonic epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 94. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158683 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 94 | Alliance | Developmental and epileptic encephalopathy 94 | 615369 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| epilepsy | WT + MO1-chd2 | control | Melikishvili et al., 2024 |
| myoclonic-atonic epilepsy | WT + MO1-chd2 | standard conditions | Suls et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023779 | Chromo domain, conserved site |
| Domain | IPR000330 | SNF2, N-terminal |
| Domain | IPR000953 | Chromo/chromo shadow domain |
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR023780 | Chromo domain |
| Domain | IPR025260 | Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain |
| Domain | IPR040793 | CDH1/2, SANT-Helical linker 1 |
| Domain | IPR049730 | SNF2/RAD5-like, C-terminal helicase domain |
| Homologous_superfamily | IPR016197 | Chromo-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Length | CDH1/2, SANT-Helical linker 1 | Chromo/chromo shadow domain | Chromo domain | Chromo domain, conserved site | Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain | 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:A0A0R4IR86
|
1799 | ||||||||||||
|
UniProtKB:A0A8M9PQC3
|
1817 | ||||||||||||
|
UniProtKB:A0A8M9P155
|
1778 | ||||||||||||
|
UniProtKB:A0A8M3AUW8
|
1813 |
Interactions and Pathways
No data available
Plasmids
No data available