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]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000133812 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000038371 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
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. S2CID 27056666.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. PMC1180267. 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.
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. S2CID 11800190.
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. PMC528928. 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. PMC1356129. PMID 16344560.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
sbf2, myotubularin, related, protein, protein, that, humans, encoded, gene, identifiersaliases, cmt4b2, dennd7b, mtmr13, binding, factor, 2external, idsomim, 607697, 1921831, homologene, 41810, genecards, gene, location, human, chromosome, human, band11p15, 4s. Myotubularin related protein 13 is a protein that in humans is encoded by the SBF2 gene 5 6 SBF2IdentifiersAliasesSBF2 CMT4B2 DENND7B MTMR13 SET binding factor 2External IDsOMIM 607697 MGI 1921831 HomoloGene 41810 GeneCards SBF2Gene location Human Chr Chromosome 11 human 1 Band11p15 4Start9 776 776 bp 1 End10 304 877 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 7 E3Start109 907 220 bp 2 End110 214 129 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpancreatic epithelial cellAchilles tendonsural nervegerminal epitheliumseminal vesiculagastric mucosapancreatic ductal cellsubcutaneous adipose tissuecorpus callosumcervixTop expressed inPaneth cellsciatic nerverenal corpuscleright ventriclefossamedullary collecting ductcondylesubstantia nigraciliary bodybarrel cortexMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionphosphatase binding phosphatase regulator activity protein binding phosphatidylinositol binding protein homodimerization activity guanyl nucleotide exchange factor activityCellular componentcytoplasm membrane vacuolar membrane cytosol endosome endosome membrane axon cell projection perinuclear region of cytoplasmBiological processregulation of GTPase activity myelination protein tetramerization autophagySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez81846319934EnsemblENSG00000133812ENSMUSG00000038371UniProtQ86WG5E9PXF8RefSeq mRNA NM 030962NM 001386339NM 001386342NM 177324NM 178769RefSeq protein NP 112224NP 796298NP 001391316NP 001391317NP 001391318Location UCSC Chr 11 9 78 10 3 MbChr 7 109 91 110 21 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe 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 edit a b c GRCh38 Ensembl release 89 ENSG00000133812 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000038371 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b Entrez Gene SBF2 SET binding factor 2 Further reading editGambardella 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 S2CID 27056666 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 Bibcode 2002PNAS 9916899M 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 Taieb 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 S2CID 34376413 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 S2CID 11800190 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 editGeneReviews NCBI NIH UW entry on Charcot Marie Tooth Neuropathy Type 4 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SBF2 amp oldid 1142720292, wikipedia, wiki, book, books, library,
