Gene
sbf2
- ID
- ZDB-GENE-030911-10
- Name
- SET binding factor 2
- Symbol
- sbf2 Nomenclature History
- Previous Names
-
- cmt4b2
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2. Orthologous to human SBF2 (SET binding factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhu et al., 2020
- 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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 4B2 | Alliance | Charcot-Marie-Tooth disease, type 4B2 | 604563 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | cDENN domain | dDENN domain | DENN domain, C-terminal lobe | GRAM domain | Myotubularin | Myotubularin-like, phosphatase domain | Myotubularin-related protein 13, PH-GRAM domain | PH-like domain superfamily | Pleckstrin homology domain | Protein-tyrosine phosphatase-like | SBF1/SBF2 domain | Tripartite DENN domain | uDENN domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QI58 | InterPro | 1845 | |||||||||||||
| UniProtKB:A0A2R8PXC7 | InterPro | 1873 | |||||||||||||
| UniProtKB:E7F4G2 | InterPro | 1898 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available