SBF2

From Wikipedia, the free encyclopedia

SET binding factor 2

Identifiers

SBF2; CMT4B2; DKFZp779B2327; FLJ22918; FLJ41627; KIAA1766; MTMR13

External IDs

OMIM: 607697 MGI: 1921831 HomoloGene: 41810

Gene ontology
Molecular Function:	• inositol or phosphatidylinositol phosphatase activity • protein binding
Cellular Component:	• membrane
Biological Process:	• myelination • phospholipid dephosphorylation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_030962 (mRNA)
NP_112224 (protein)

XM_001001143 (mRNA)
XP_001001143 (protein)

Location

Chr 11: 9.76 - 10.27 Mb

n/a

Pubmed search

[1]

[2]

SET binding factor 2, also known as SBF2, is a human gene.^[1]

The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: SBF2 SET binding factor 2.

[edit] Further reading

Gambardella A, Bolino A, Muglia M, et al. (1998). "Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).". Neurology 50 (3): 799–801. PMID 9521281.
Othmane KB, Johnson E, Menold M, et al. (2000). "Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.". Genomics 62 (3): 344–9. doi:10.1006/geno.1999.6028. PMID 10644431.
Nagase T, Kikuno R, Hattori A, et al. (2001). "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 (6): 347–55. PMID 11214970.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Senderek J, Bergmann C, Weber S, et al. (2003). "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 (3): 349–56. PMID 12554688.
Azzedine H, Bolino A, Taïeb T, et al. (2003). "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 (5): 1141–53. PMID 12687498.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hirano R, Takashima H, Umehara F, et al. (2005). "SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.". Neurology 63 (3): 577–80. PMID 15304601.
Conforti FL, Muglia M, Mazzei R, et al. (2005). "A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).". Neurology 63 (7): 1327–8. PMID 15477569.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Robinson FL, Dixon JE (2005). "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 (36): 31699–707. doi:10.1074/jbc.M505159200. PMID 15998640.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.