Gene
rhobtb2b
- ID
- ZDB-GENE-071125-1
- Name
- Rho related BTB domain containing 2b
- Symbol
- rhobtb2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity; GTPase activity; and protein kinase binding activity. Predicted to be involved in several processes, including Rho protein signal transduction; actin cytoskeleton organization; and regulation of cell shape. Predicted to localize to several cellular components, including cell cortex; cell division site; and cytoplasmic vesicle. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Orthologous to human RHOBTB2 (Rho related BTB domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 64 | Alliance | Developmental and epileptic encephalopathy 64 | 618004 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BTB/POZ domain | P-loop containing nucleoside triphosphate hydrolase | SKP1/BTB/POZ domain superfamily | Small GTPase | Small GTPase Rho |
|---|---|---|---|---|---|---|
|
UniProtKB:E7F6W1
|
714 | |||||
|
UniProtKB:A0A8M6Z0X0
|
722 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available