SBF2

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

SBF2
Identifiers
AliasesSBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDsOMIM: 607697 MGI: 1921831 HomoloGene: 41810 GeneCards: SBF2
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

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


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