SBF2

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SET binding factor 2
Identifiers
Symbols SBF2 ; CMT4B2; DENND7B; MTMR13
External IDs OMIM607697 MGI1921831 HomoloGene41810 GeneCards: SBF2 Gene
RNA expression pattern
PBB GE SBF2 gnf1h08021 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 81846 319934
Ensembl ENSG00000133812 ENSMUSG00000038371
UniProt Q86WG5 E9PXF8
RefSeq (mRNA) NM_030962 NM_177324
RefSeq (protein) NP_112224 NP_796298
Location (UCSC) Chr 11:
9.8 – 10.32 Mb
Chr 7:
110.31 – 110.61 Mb
PubMed search [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: SBF2 SET binding factor 2". 

Further reading[edit]

External links[edit]