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 guanyl-nucleotide exchange factor activity and phosphatase regulator activity. Predicted to be involved in regulation of GTPase activity. Predicted to localize to 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sbf2 Human Ortholog
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
Associated With sbf2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Family IPR030567 Myotubularin-related protein 13
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 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:E7F4G2 1898
UniProtKB:A0A2R8PXC7 1873
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations