Aliases for SBF2 Gene
External Ids for SBF2 Gene
Previous HGNC Symbols for SBF2 Gene
Previous GeneCards Identifiers for SBF2 Gene
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
GeneCards Summary for SBF2 Gene
SBF2 (SET Binding Factor 2) is a Protein Coding gene. Diseases associated with SBF2 include Charcot-Marie-Tooth Disease, Type 4B2 and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding. An important paralog of this gene is SBF1.
UniProtKB/Swiss-Prot for SBF2 Gene
Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity).