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; GTPase activity; and protein kinase binding activity. Predicted to be involved in several processes, including cytoskeleton organization; regulation of actin cytoskeleton organization; and regulation of cell shape. Predicted to act upstream of or within small GTPase-mediated signal transduction. Predicted to be active in several cellular components, including cytoplasmic vesicle; cytoskeleton; and plasma membrane. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 64. 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BTB/POZ domain | P-loop containing nucleoside triphosphate hydrolase | SKP1/BTB/POZ domain superfamily | Small GTPase | Small GTPase Rho |
|---|---|---|---|---|---|---|---|
| UniProtKB:E7F6W1 | InterPro | 714 | |||||
| UniProtKB:A0A8M6Z0X0 | InterPro | 722 |
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- 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
- Li, S., Liu, C., Goldstein, A., Xin, Y., Ke, C., Duan, C. (2021) Calcium State-Dependent Regulation of Epithelial Cell Quiescence by Stanniocalcin 1a. Frontiers in cell and developmental biology. 9:662915
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Salas-Vidal, E., Meijer, A.H., Cheng, X., and Spaink, H.P. (2005) Genomic annotation and expression analysis of the zebrafish Rho small GTPase family during development and bacterial infection. Genomics. 86(1):25-37
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