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SET Binding Factor 2 (SBF2)

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CMT4B2; MTMR13; Charcot-Marie-Tooth Neuropathy 4B2; Autosomal Recessive,With Myelin Outfolding; Myotubularin Related 13

SET Binding Factor 2 (SBF2)
CCC H198
HGNC 2135
MGI 1921831
PubMed 19912440
UniProt Q86WG5
Wiki SBF2
The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1, and pseudophosphatases, such as SBF1 and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine.
The deduced 1,849-amino acid protein contains 3 N-terminal DENN domains, a central GRAM (glucosyltransferase, Rab-like GTPase activators, myotubularins) motif, a phosphatase domain, a SID (SET-interacting) domain, and a C-terminal pleckstrin homology (PH) motif. A leucine residue replaces the catalytic cysteine conserved in other myotubularins, indicating that SBF2 is a pseudophosphatase. SBF2 shares 36% sequence identity over 236 amino acids with MTMR2, and 59% overall sequence identity with SBF1.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SET Binding Factor 2 (SBF2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SET Binding Factor 2 (SBF2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SET Binding Factor 2 (SBF2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SET Binding Factor 2 (SBF2) CLIA Kit Customized Service Offer
n/a ELISA Kit for SET Binding Factor 2 (SBF2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant SET Binding Factor 2 (SBF2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to SET Binding Factor 2 (SBF2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to SET Binding Factor 2 (SBF2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for SET Binding Factor 2 (SBF2) CLIA Kit Customized Service Offer
n/a ELISA Kit for SET Binding Factor 2 (SBF2) ELISA Kit Customized Service Offer
  1. "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15."Hum. Mol. Genet. 12:349-356(2003) [PubMed] [Europe PMC] [Abstract]
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma."Am. J. Hum. Genet. 72:1141-1153(2003) [PubMed] [Europe PMC] [Abstract]
  6. "SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma."Neurology 63:577-580(2004) [PubMed] [Europe PMC] [Abstract]
  7. "A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)."Neurology 63:1327-1328(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease."J. Biol. Chem. 280:31699-31707(2005) [PubMed] [Europe PMC] [Abstract]
  9. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]