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FLASH GENE
Symbol SBF2 contributors: mct/npt - updated : 11-03-2016
HGNC name SET binding factor 2
HGNC id 2135
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three DENN (AEX-3) domain
  • SID motif
  • one GRAM domain and a PH homology domain
  • one PH domain
  • one UDENN domain
    • HOMOLOGY
    interspecies ortholog to murine Sbf2
    intraspecies homolog to MTMR2
    Homologene
    FAMILY
  • protein-tyrosine phosphatase family
  • non-receptor class myotubularin subfamily
  • myotubularin protein family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • acting to maintain structural and functional integrity of the peripheral nervous system
  • involved in both the differentiation of Schwann cells during myelination and in the formation and development of the trabeculum
  • may regulate vesicular trafficking in Schwann cells (Previtali 2007)
  • counteracts the blockage of EGFR degradation without affecting prolonged AKT1 activation
  • MTMR2 and SBF2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in CMT4B
  • acting as an adaptor and activator for MTMR2 but also as an independent competitive inhibitor of MTMR2 localization and function
  • SBF2 and RAB21 have conserved functions required for starvation-induced autophagy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex MTMR2/SBF2 involved in the regulation of MTMR2 activity
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MTMR2 (favorably competes with MTMR2 for binding sites)
  • is a critical coordinator of PI(3)P and RAB21 regulation, which specifies an endosomal pathway and cortical control
  • is required for RAB21 activation, VAMP8 interaction and VAMP8 endolysosomal trafficking, defining a novel GEF-Rab-effector pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4B2
    Susceptibility to variation of stature
    Variant & Polymorphism SNP seven contiguous SNPs in this region significantly associated with human stature (Lei 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS