Recombinant Human Myotubularin-related protein 2 (MTMR2)

1. report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review PMID: 28190646
2. Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. PMID: 28934386
3. The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform PMID: 27466180
4. we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings PMID: 23781969
5. these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events. PMID: 23378027
6. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. PMID: 21741241
7. MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events. PMID: 21372139
8. MTMR2 shares similar phosphatase activity and substrate specificity than its homologous proteins MTM1 and MTMR3 PMID: 11846405
9. REVIEW : MTMR2 belongs to the myotubularin family of phosphoinositides phosphatases PMID: 12925573
10. Loss of MTMR2, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system PMID: 17336078
11. REVIEW : MTMR2 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
12. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene PMID: 12398840
13. MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction. PMID: 12668758
14. crystal structure of MTMR2, a protein tyrosine phosphatase that is a member of the myotubularin-related protein family. PMID: 14690594
15. Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. PMID: 15998640
16. analysis of the molecular basis for this unique substrate specificity of human myotubularin-related protein-2 (MTMR2) in complex with phosphoinositides PMID: 16410353
17. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751

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HGNC: 7450

OMIM: 601382

KEGG: hsa:8898

STRING: 9606.ENSP00000345752

UniGene: Hs.181326