SBF2

SBF2
Identifiers
Aliases	SBF2 , CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDs	OMIM: 607697; MGI: 1921831; HomoloGene: 41810; GeneCards: SBF2; OMA:SBF2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p15.4 Start 9,776,776 bp [1] End 10,304,877 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 E3 Start 109,907,220 bp [2] End 110,214,129 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell epithelium of colon Achilles tendon sural nerve germinal epithelium ventricular zone seminal vesicula gastric mucosa pancreatic ductal cell subcutaneous adipose tissue Top expressed in Paneth cell sciatic nerve renal corpuscle right ventricle fossa medullary collecting duct Ileal epithelium condyle substantia nigra ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatase binding phosphatase regulator activity protein binding phosphatidylinositol binding protein homodimerization activity guanyl-nucleotide exchange factor activity Cellular component cytoplasm membrane vacuolar membrane cytosol endosome endosome membrane axon cell projection perinuclear region of cytoplasm Biological process 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_001386339 NM_001386342 NM_177324 NM_178769 RefSeq (protein) NP_112224 NP_796298 NP_001391316 NP_001391317 NP_001391318 Location (UCSC) Chr 11: 9.78 – 10.3 Mb Chr 7: 109.91 – 110.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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, 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. 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

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