myotubularin related protein 9


Gene Symbol: myotubularin related protein 9
Description: myotubularin related protein 9
Alias: C8orf9, LIP-STYX, MTMR8, myotubularin-related protein 9, myotubularin related protein 8
Species: human

Top Publications

  1. Zapata I, Moraes L, Fiala E, Zaldivar Lopez S, Couto C, ROWELL J, et al. Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common. BMC Genomics. 2019;20:226 pubmed publisher
    ..Polygenic osteosarcoma-risk commonly rises to Mendelian-levels in some dog breeds. This justifies caninized animal models and targeted clinical trials in pet dogs (e.g., using CDK4/6 and FGFR1/2 inhibitors). ..
  2. Zhang L, Chen D, Yu L, Wei Y, Li J, Zhou C. Genome-wide analysis of the ovodefensin gene family: Monophyletic origin, independent gene duplication and presence of different selection patterns. Infect Genet Evol. 2019;68:265-272 pubmed publisher
    ..Continued sequence mining and functional studies of OvoDs will be helpful in shedding light on the relationships between OvoDs and other defensin-related gene families. ..
  3. Guo L, Martens C, Bruno D, Porcella S, Yamane H, Caucheteux S, et al. Lipid phosphatases identified by screening a mouse phosphatase shRNA library regulate T-cell differentiation and protein kinase B AKT signaling. Proc Natl Acad Sci U S A. 2013;110:E1849-56 pubmed publisher
    ..Thus, myotubularin-related proteins have a role in controlling in vitro and in vivo Th-cell differentiation, possibly through regulation of phosphatidylinositol [3,4,5]-trisphosphate activity. ..
  4. Maddirevula S, Alzahrani F, Al Owain M, Al Muhaizea M, Kayyali H, Alhashem A, et al. Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019;21:736-742 pubmed publisher
    ..Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing. ..
  5. Waugh M. Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma Multiforme. Mol Neurobiol. 2016;53:621-630 pubmed publisher
    ..were highly penetrant copy number losses for a group of X-linked phosphoinositide phosphatase genes OCRL, MTM1 and MTMR8; copy number amplifications for the chromosome 19 genes PIP5K1C, AKT2 and PIK3R2, and also for the phospholipase C ..
  6. Yoo K, Son J, Lee J, Shin W, Im D, Kim S, et al. Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation. Acta Crystallogr D Biol Crystallogr. 2015;71:1528-39 pubmed publisher
    ..Here, the crystal structure of the phosphatase domain of MTMR8 is reported...
  7. Ali S, Ghosh K, Shetty S. Differential expression of genes involved in Bengal macrothrombocytopenia (BMTCP). Blood Cells Mol Dis. 2015;55:410-4 pubmed publisher
    ..Four genes i.e. myotubularin related protein 9 (MTMR9), iron responsive element binding protein 2 (IREB2), alpha tubulin(TUBA) and tyrosine kinase ..
  8. Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017;136:921-939 pubmed publisher
  9. Wang J, Radford D, Holt M, Helms C, Goate A, Brandt W, et al. Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23. Genomics. 1999;60:1-11 pubmed
    ..In addition, four unique cDNA clones from the region were isolated and fully sequenced. This integrated YAC/BAC resource provides the starting point for transcription mapping, genomic sequencing, and positional cloning of this region. ..

More Information


  1. Tang L, Tong Y, Cao H, Xie S, Yang Q, Zhang F, et al. The MTMR9 rs2293855 polymorphism is associated with glucose tolerance, insulin secretion, insulin sensitivity and increased risk of prediabetes. Gene. 2014;546:150-5 pubmed publisher
    ..We also suggest that allele G is likely to increase the risk of prediabetes by influencing both insulin secretion and insulin sensitivity. ..
  2. Mochizuki Y, Majerus P. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Proc Natl Acad Sci U S A. 2003;100:9768-73 pubmed
    ..The binding of MTMR9 increased the Ins(1,3)P2 phosphatase activity of MTMR7. Our results show that MTMR7 forms a complex with MTMR9 and dephosphorylates phosphatidylinositol 3-phosphate and Ins(1,3)P2 in neuronal cells. ..
  3. Ikram M, Sim X, Xueling S, Jensen R, Cotch M, Hewitt A, et al. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet. 2010;6:e1001184 pubmed publisher
    ..These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular disease. ..
  4. Zou J, Zhang C, Marjanovic J, Kisseleva M, Majerus P, Wilson M. Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8. Proc Natl Acad Sci U S A. 2012;109:9539-44 pubmed publisher
    ..We studied a subfamily of homologous myotubularins, including myotubularin-related protein 6 (MTMR6), MTMR7, and MTMR8, all of which dimerize with the catalytically inactive MTMR9...
  5. Appel S, Reichwald K, Zimmermann W, Reis A, Rosenthal A, Hennies H. Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Genomics. 2001;75:6-8 pubmed
    ..Here we isolate and localize a novel putative myotubularin-related protein gene (MTMR8) on chromosome 8p22--p23,between the markers D8S550 and D8S265, by exon-trapping experiments and RT-PCR...
  6. Hotta K, Kitamoto T, Kitamoto A, Mizusawa S, Matsuo T, Nakata Y, et al. Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population. J Hum Genet. 2011;56:647-51 pubmed publisher
    ..SNPs in the FTO, SCG3 and MTMR9 genes had no SNP × SNP epistatic effects on metabolic syndrome. Our data suggest that genetic variations in the FTO, SCG3 and MTMR9 genes independently influence the risk of metabolic syndrome. ..
  7. Maekawa M, Terasaka S, Mochizuki Y, Kawai K, Ikeda Y, Araki N, et al. Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis. Proc Natl Acad Sci U S A. 2014;111:E978-87 pubmed publisher
    ..We propose that the sequential breakdown of PI(3,4,5)P3 ? PI(3,4)P2 ? PI(3)P ? PI controls macropinocytosis through specific effectors of the intermediate phosphoinositides. ..
  8. Lorenzo O, Urbé S, Clague M. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. J Cell Sci. 2006;119:2953-9 pubmed
    ..We have confirmed all previously reported combinations and identified novel heteromeric interactions: MTMR8 with MTMR9, and MTMR3 with MTMR4, the first such combination of enzymatically active MTMs...
  9. Yanagiya T, Tanabe A, Iida A, Saito S, Sekine A, Takahashi A, et al. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity. Hum Mol Genet. 2007;16:3017-26 pubmed
    ..Our data suggested that genetic variations in MTMR9 may confer a predisposition towards obesity and hypertension through regulation of hypothalamic neuropeptides. ..
  10. Zou J, Chang S, Marjanovic J, Majerus P. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. J Biol Chem. 2009;284:2064-71 pubmed publisher
    ..Thus, MTMR9 greatly enhances the functions of MTMR6. ..
  11. Appel S, Filter M, Reis A, Hennies H, Bergheim A, Ogilvie E, et al. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet. 2002;10:17-25 pubmed
    ..A putative novel myotubularin-related protein gene (MTMR8), a potential human homologue of the mouse acyl-malonyl condensing enzyme gene (Amac1), and two transcripts ..