Gene
dock8
- ID
- ZDB-GENE-060503-743
- Name
- dedicator of cytokinesis 8
- Symbol
- dock8 Nomenclature History
- Previous Names
-
- im:7154406 (1)
- si:dkey-91m11.1
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity. Predicted to be involved in small GTPase mediated signal transduction. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 2 and hyper IgE recurrent infection syndrome 2. Is expressed in forebrain; midbrain; and ventricular zone. Orthologous to human DOCK8 (dedicator of cytokinesis 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7154406 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Wu et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hyper IgE recurrent infection syndrome 2 | Alliance | Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections | 243700 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR021816 | Dedicator of cytokinesis C/D, N-terminal |
| Domain | IPR027007 | C2 DOCK-type domain |
| Domain | IPR027357 | DOCKER domain |
| Domain | IPR037808 | Dedicator of cytokinesis C, C2 domain |
| Domain | IPR046769 | DOCKER, Lobe A |
| Domain | IPR046770 | DOCKER, Lobe B |
| Domain | IPR046773 | DOCKER, Lobe C |
| Family | IPR026791 | Dedicator of cytokinesis |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
| Homologous_superfamily | IPR043161 | Dedicator of cytokinesis, C-terminal, lobe A |
| Homologous_superfamily | IPR043162 | Dedicator of cytokinesis, C-terminal, lobe C |
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | C2 DOCK-type domain | C2 domain superfamily | Dedicator of cytokinesis | Dedicator of cytokinesis C, C2 domain | Dedicator of cytokinesis C/D, N-terminal | Dedicator of cytokinesis, C-terminal, lobe A | Dedicator of cytokinesis, C-terminal, lobe C | DOCKER domain | DOCKER, Lobe A | DOCKER, Lobe B | DOCKER, Lobe C |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QJ79
|
2090 | ||||||||||||
|
UniProtKB:A0A8M3B500
|
2021 |
Interactions and Pathways
No data available
Plasmids
No data available