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Gene Review

SBF2  -  SET binding factor 2

Homo sapiens

Synonyms: CMT4B2, DENND7B, KIAA1766, MTMR13, Myotubularin-related protein 13, ...
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Disease relevance of SBF2


High impact information on SBF2

  • In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13 [1].
  • We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2) [1].
  • MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor [1].
  • On membranes of large vesicles formed under hypo-osmotic conditions, Sbf2 favorably competes with Mtmr2 for binding sites [3].
  • Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 [4].

Biological context of SBF2

  • Molecular study of the SBF2 gene in the CMT4B family demonstrated the presence of a homozygous inframe deletion of SBF2 exons 11 and 12 in all four affected individuals [4].
  • Localization of SBF2 within the candidate interval, cosegregation with the disease, expression in the peripheral nervous system, and resemblance of the histopathological phenotype to that related to mutations in its paralogue MTMR2 indicate that this gene is the CMT4B2 gene [4].
  • Autosomal recessive CMT is genetically heterogeneous with one locus mapped to chromosome 11p15 (CMT4B2) [4].
  • Since SBF1 governs the formation kinetics and composition of the initial precursor spheres, we hypothesized that the pH of the SBF1 solution will also influence the final structure of the SBF2-derived crystalline apatite [5].
  • The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations [6].

Anatomical context of SBF2


Associations of SBF2 with chemical compounds

  • To test this hypothesis, polystyrene substrates were immersed into SBF1 with different pH (5.8 or 6.5), and then immersed into the identical SBF2 (pH=6.0) [5].
  • The MTMR13 phosphatase domain is catalytically inactive because the essential Cys and Arg residues are absent [7].

Other interactions of SBF2


Analytical, diagnostic and therapeutic context of SBF2


  1. 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. Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E. Am. J. Hum. Genet. (2003) [Pubmed]
  2. The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. Srivastava, S., Li, Z., Lin, L., Liu, G., Ko, K., Coetzee, W.A., Skolnik, E.Y. Mol. Cell. Biol. (2005) [Pubmed]
  3. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Berger, P., Berger, I., Schaffitzel, C., Tersar, K., Volkmer, B., Suter, U. Hum. Mol. Genet. (2006) [Pubmed]
  4. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K. Hum. Mol. Genet. (2003) [Pubmed]
  5. The effect of pH on the structural evolution of accelerated biomimetic apatite. Chou, Y.F., Chiou, W.A., Xu, Y., Dunn, J.C., Wu, B.M. Biomaterials (2004) [Pubmed]
  6. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Hirano, R., Takashima, H., Umehara, F., Arimura, H., Michizono, K., Okamoto, Y., Nakagawa, M., Boerkoel, C.F., Lupski, J.R., Osame, M., Arimura, K. Neurology (2004) [Pubmed]
  7. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. Robinson, F.L., Dixon, J.E. J. Biol. Chem. (2005) [Pubmed]
  8. Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. Kirfel, J., Senderek, J., Moser, M., Röper, A., Stendel, C., Bergmann, C., Zerres, K., Buettner, R. Gene Expr. Patterns (2006) [Pubmed]
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