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 RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. 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 Summary 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).