Sequence Detail

ID/Version

E9PXF8 E9Q305 Q91VH0 Q8BJD2 Q8BJ67 Q8BJP4 (UniProt | EBI)

Last sequence update: 2011-04-05
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Myotubularin-related protein 13 {ECO:0000305};AltName: Full=Inactive phosphatidylinositol 3-phosphatase 13 {ECO:0000305};AltName: Full=SET-binding factor 2 {ECO:0000312|MGI:MGI:1921831};

Provider

SWISS-PROT

Sequence

Polypeptide 1872 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Sbf2	SET binding factor 2	24	99	3	15

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:106780 Berger P, et al., Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006 Feb 15;15(4):569-79
J:112317 Kirfel J, et al., Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. Gene Expr Patterns. 2006 Dec;6(8):978-84
J:132044 Tersar K, et al., Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet. 2007 Dec 15;16(24):2991-3001
J:133391 Robinson FL, et al., Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4916-21
J:194990 Ng AA, et al., The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum Mol Genet. 2013 Apr 15;22(8):1493-506
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:326685 Mammel AE, et al., Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination. Hum Mol Genet. 2022 Apr 22;31(8):1216-1229