Sequence Detail

ID/Version

Q9Z2D1 Q8VHA7 B8JJF4 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 {ECO:0000305|PubMed:12045210, ECO:0000305|PubMed:16399794}; EC=3.1.3.95 {ECO:0000269|PubMed:12045210, ECO:0000269|PubMed:16399794};AltName: Full=Myotubularin-related protein 2

Provider

SWISS-PROT

Sequence

Polypeptide 643 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	Mtmr2	myotubularin related protein 2	83	104	3	19

Sequence references in MGI

J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
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: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
J:354383 Berger P, et al., Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2002 Jun 15;11(13):1569-79