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 enable GTP binding activity and GTPase activity. Predicted to be involved in several processes, including Cdc42 protein signal transduction; actin cytoskeleton organization; and endocytosis. Predicted to act upstream of or within small GTPase mediated signal transduction. Human ortholog(s) of this gene implicated in developmental and 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
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rhobtb2b-201
(1)
|
Ensembl | 3,916 nt | ||
| mRNA |
rhobtb2b-202
(1)
|
Ensembl | 4,693 nt | ||
| mRNA |
rhobtb2b-203
(1)
|
Ensembl | 306 nt |
Interactions and Pathways
No data available
Plasmids
No data available