SBF2: Difference between revisions

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{{Infobox_gene}}
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'''Myotubularin-related protein 13''' is a [[protein]] that in humans is encoded by the ''SBF2'' [[gene]].<ref name="pmid10644431">{{cite journal | vauthors = Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM | title = Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15 | journal = Genomics | volume = 62 | issue = 3 | pages = 344–9 |date=Mar 2000 | pmid = 10644431 | pmc =  | doi = 10.1006/geno.1999.6028 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SBF2 SET binding factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81846| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = SET binding factor 2
| HGNCid = 2135
| Symbol = SBF2
| AltSymbols =; CMT4B2; DKFZp779B2327; FLJ22918; FLJ41627; KIAA1766; MTMR13
| OMIM = 607697
| ECnumber =
  | Homologene = 41810
| MGIid = 1921831
| GeneAtlas_image1 = PBB_GE_SBF2_gnf1h08021_at_tn.png
| Function = {{GNF_GO|id=GO:0004437 |text = inositol or phosphatidylinositol phosphatase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0042552 |text = myelination}} {{GNF_GO|id=GO:0046839 |text = phospholipid dephosphorylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 81846
    | Hs_Ensembl = ENSG00000133812
    | Hs_RefseqProtein = NP_112224
    | Hs_RefseqmRNA = NM_030962
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 9756790
    | Hs_GenLoc_end = 10272296
    | Hs_Uniprot = Q86WG5
    | Mm_EntrezGene = 319934
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = XM_001001143
    | Mm_RefseqProtein = XP_001001143
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''SET binding factor 2''', also known as '''SBF2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SBF2 SET binding factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81846| accessdate = }}</ref>


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{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: SBF2 SET binding factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81846| accessdate = }}</ref>
| summary_text = 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].<ref name="entrez">{{cite web | title = Entrez Gene: SBF2 SET binding factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81846| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Gambardella A, Bolino A, Muglia M, ''et al.'' |title=Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). |journal=Neurology |volume=50 |issue= 3 |pages= 799-801 |year= 1998 |pmid= 9521281 |doi=  }}
*{{cite journal   |vauthors=Gambardella A, Bolino A, Muglia M, etal |title=Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). |journal=Neurology |volume=50 |issue= 3 |pages= 799–801 |year= 1998 |pmid= 9521281 |doi=  10.1212/wnl.50.3.799}}
*{{cite journal  | author=Othmane KB, Johnson E, Menold M, ''et al.'' |title=Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. |journal=Genomics |volume=62 |issue= 3 |pages= 344-9 |year= 2000 |pmid= 10644431 |doi= 10.1006/geno.1999.6028 }}
*{{cite journal   |vauthors=Nagase T, Kikuno R, Hattori A, etal |title=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. |journal=DNA Res. |volume=7 |issue= 6 |pages= 347–55 |year= 2001 |pmid= 11214970 |doi=10.1093/dnares/7.6.347 }}
*{{cite journal | author=Nagase T, Kikuno R, Hattori A, ''et al.'' |title=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. |journal=DNA Res. |volume=7 |issue= 6 |pages= 347-55 |year= 2001 |pmid= 11214970 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Senderek J, Bergmann C, Weber S, etal |title=Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 349–56 |year= 2003 |pmid= 12554688 |doi=10.1093/hmg/ddg030 }}
*{{cite journal | author=Senderek J, Bergmann C, Weber S, ''et al.'' |title=Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 349-56 |year= 2003 |pmid= 12554688 |doi=  }}
*{{cite journal   |vauthors=Azzedine H, Bolino A, Taïeb T, etal |title=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. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1141–53 |year= 2003 |pmid= 12687498 |doi=10.1086/375034  | pmc=1180267 }}
*{{cite journal | author=Azzedine H, Bolino A, Taïeb T, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1141-53 |year= 2003 |pmid= 12687498 |doi=  }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Hirano R, Takashima H, Umehara F, etal |title=SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. |journal=Neurology |volume=63 |issue= 3 |pages= 577–80 |year= 2005 |pmid= 15304601 |doi=  10.1212/01.wnl.0000133211.40288.9a}}
*{{cite journal | author=Hirano R, Takashima H, Umehara F, ''et al.'' |title=SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. |journal=Neurology |volume=63 |issue= 3 |pages= 577-80 |year= 2005 |pmid= 15304601 |doi=  }}
*{{cite journal   |vauthors=Conforti FL, Muglia M, Mazzei R, etal |title=A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). |journal=Neurology |volume=63 |issue= 7 |pages= 1327–8 |year= 2005 |pmid= 15477569 |doi=  10.1212/01.wnl.0000140617.02312.80}}
*{{cite journal | author=Conforti FL, Muglia M, Mazzei R, ''et al.'' |title=A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). |journal=Neurology |volume=63 |issue= 7 |pages= 1327-8 |year= 2005 |pmid= 15477569 |doi=  }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Robinson FL, Dixon JE |title=The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. |journal=J. Biol. Chem. |volume=280 |issue= 36 |pages= 31699–707 |year= 2005 |pmid= 15998640 |doi= 10.1074/jbc.M505159200 }}
*{{cite journal  | author=Robinson FL, Dixon JE |title=The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. |journal=J. Biol. Chem. |volume=280 |issue= 36 |pages= 31699-707 |year= 2005 |pmid= 15998640 |doi= 10.1074/jbc.M505159200 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
}}
}}
{{refend}}
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{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1468/  GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4]
 
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Revision as of 05:56, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.[1][2]

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].[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: SBF2 SET binding factor 2".

Further reading

External links



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