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Importing Wikidata short description: Protein-coding gene in the species Homo sapiens (shortdescs-in-category)
 
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{{Short description|Protein-coding gene in the species Homo sapiens}}
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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 | author = 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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81846| accessdate = }}</ref>


{{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 | 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}}</ref>
{{PBB_Summary

| 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>
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}}</ref>
}}


==References==
==References==
{{reflist}}
{{reflist}}

==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{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|s2cid=27056666 }}
{{PBB_Further_reading
*{{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 |doi-access=free }}
| 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= 10.1212/wnl.50.3.799}}
*{{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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{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=10.1093/dnares/7.6.347 }}
*{{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 |doi-access=free }}
*{{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 | pmc=139241 }}
*{{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=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=10.1093/hmg/ddg030 }}
*{{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 |doi-access= free }}
*{{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=10.1086/375034 | pmc=1180267 }}
*{{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|s2cid=34376413 }}
*{{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=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|s2cid=11800190 }}
*{{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= 10.1212/01.wnl.0000133211.40288.9a}}
*{{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=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= 10.1212/01.wnl.0000140617.02312.80}}
*{{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 |doi-access= free }}
*{{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 | pmc=528928 }}
*{{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=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=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 | pmc=1356129 }}
}}
{{refend}}
{{refend}}


==External links==
==External links==
* [http://www.ncbi.nlm.nih.gov/books/NBK1468/ GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4]
* [https://www.ncbi.nlm.nih.gov/books/NBK1468/ GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4]


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Latest revision as of 00:48, 4 March 2023

SBF2
Identifiers
AliasesSBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDsOMIM: 607697; MGI: 1921831; HomoloGene: 41810; GeneCards: SBF2; OMA:SBF2 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 7: 109.91 – 110.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000133812 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: SBF2 SET binding factor 2".

Further reading

[edit]
[edit]


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