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 have phosphatase regulator activity. Predicted to be involved in regulation of GTPase activity. 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001194 | cDENN domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR004182 | GRAM domain |
| Domain | IPR005112 | dDENN domain |
| Domain | IPR005113 | uDENN domain |
| Domain | IPR010569 | Myotubularin-like, phosphatase domain |
| Domain | IPR022096 | SBF1/SBF2 domain |
| Domain | IPR037516 | Tripartite DENN domain |
| Domain | IPR037823 | Myotubularin-related protein 13, PH-GRAM domain |
| Family | IPR030564 | Myotubularin family |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR029021 | Protein-tyrosine phosphatase-like |
| Homologous_superfamily | IPR043153 | DENN domain, C-terminal lobe |
Domain Details Per Protein
| Protein | Length | cDENN domain | dDENN domain | DENN domain, C-terminal lobe | GRAM domain | Myotubularin family | 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
|
1845 | |||||||||||||
|
UniProtKB:A0A2R8PXC7
|
1873 | |||||||||||||
|
UniProtKB:E7F4G2
|
1898 |
Interactions and Pathways
No data available
Plasmids
No data available