SBF2

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.[5][6]

SBF2
Identifiers
Aliases	SBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDs	OMIM: 607697 MGI: 1921831 HomoloGene: 41810 GeneCards: SBF2
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 9,778,667 bp[1] End 10,294,207 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E3 Start 110,308,013 bp[2] End 110,614,922 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphatase binding • phosphatase regulator activity • GO:0001948 protein binding • phosphatidylinositol binding • protein homodimerization activity • guanyl-nucleotide exchange factor activity • Rab guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • membrane • vacuolar membrane • cytosol • endosome • endosome membrane • axon • cell projection • perinuclear region of cytoplasm Biological process • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity • myelination • protein tetramerization • autophagy Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	81846	319934
Ensembl	ENSG00000133812	ENSMUSG00000038371
UniProt	Q86WG5	E9PXF8
RefSeq (mRNA)	NM_030962	NM_177324 NM_178769
RefSeq (protein)	NP_112224	NP_796298
Location (UCSC)	Chr 11: 9.78 – 10.29 Mb	Chr 7: 110.31 – 110.61 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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].[6]

References

1. GRCh38: Ensembl release 89: ENSG00000133812 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038371 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (Mar 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.
6. "Entrez Gene: SBF2 SET binding factor 2".

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. doi:10.1212/wnl.50.3.799. PMID 9521281.
• 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. doi:10.1093/dnares/7.6.347. 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. PMC 139241. 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. doi:10.1093/hmg/ddg030. 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. doi:10.1086/375034. PMC 1180267. 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. doi:10.1212/01.wnl.0000133211.40288.9a. 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. doi:10.1212/01.wnl.0000140617.02312.80. 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. PMC 528928. 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. PMC 1356129. PMID 16344560.

External links

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4