POMT2

Summary

Gene Symbol: POMT2
Description: protein O-mannosyltransferase 2
Alias: LGMD2N, MDDGA2, MDDGB2, MDDGC2, protein O-mannosyl-transferase 2, dolichyl-phosphate-mannose--protein mannosyltransferase 2
Species: human
Products:     POMT2

Top Publications

  1. Akasaka Manya K, Manya H, Nakajima A, Kawakita M, Endo T. Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem. 2006;281:19339-45 pubmed
    ..Protein O-mannosylation is catalyzed by protein O-mannosyltransferase 1 (POMT1) and its homologue, POMT2. Coexpression of POMT1 and POMT2 is required to show O-mannosylation activity...
  2. Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A. 2004;101:500-5 pubmed
    ..Then, using this method, we showed that coexpression of both POMT1 and POMT2 (another gene homologous to yeast protein O-mannosyltransferases) was necessary for the enzyme activity, but ..
  3. van Reeuwijk J, Janssen M, van den Elzen C, Beltran Valero de Bernabe D, Sabatelli P, Merlini L, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005;42:907-12 pubmed
    ..The other genes for this highly heterogeneous disorder remain to be identified. To look for mutations in POMT2 as a cause of WWS, as both POMT1 and POMT2 are required to achieve protein O-mannosyltransferase activity...
  4. Larsen I, Narimatsu Y, Clausen H, Joshi H, Halim A. Multiple distinct O-Mannosylation pathways in eukaryotes. Curr Opin Struct Biol. 2019;56:171-178 pubmed publisher
    ..Until recently, the homologous family of ER-located protein O-mannosyl transferases (PMT1-7 in yeast; POMT1/POMT2 in humans), were the only known enzymes involved in directing O-Man biosynthesis in eukaryotes...
  5. Zhao T, Tian H, Xia Y, Jin K. MaPmt4, a protein O-mannosyltransferase, contributes to cell wall integrity, stress tolerance and virulence in Metarhizium acridum. Curr Genet. 2019;: pubmed publisher
    ..Furthermore, the results of comparative proteomics showed that MaPmt4 played important roles in fungal cell wall integrity, stress tolerances, and virulence via broad genetic pathways. ..
  6. Kumari K, Das B, Adhya A, Rath A, Mishra S. Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival. Sci Rep. 2019;9:1974 pubmed publisher
    ..In the present study, we validated six direct targets of EZH2 that are GPNMB, PMEPA1, CoL5A1, VGLL4, POMT2 and SUMF1 associated with cancer related pathways...
  7. Hu P, Yuan L, Deng H. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Mutat Res. 2018;778:45-50 pubmed publisher
  8. Castells Ballester J, Zatorska E, Meurer M, Neubert P, Metschies A, Knop M, et al. Monitoring Protein Dynamics in Protein O-Mannosyltransferase Mutants In Vivo by Tandem Fluorescent Protein Timers. Molecules. 2018;23: pubmed publisher
    ..The identified target proteins are a valuable resource towards unraveling the multiple functions of O-mannosylation at the molecular level. ..
  9. Pan Y, Pan R, Tan L, Zhang Z, Guo M. Pleiotropic roles of O-mannosyltransferase MoPmt4 in development and pathogenicity of Magnaporthe oryzae. Curr Genet. 2019;65:223-239 pubmed publisher
    ..oryzae. Taken together, these data suggest that MoPmt4 is a protein O-mannosyltransferase essential for fungal development and full virulence of M. oryzae. ..

More Information

Publications52

  1. Cui H, Liu X, McCormick M, Wasko B, Zhao W, He X, et al. PMT1 deficiency enhances basal UPR activity and extends replicative lifespan of Saccharomyces cerevisiae. Age (Dordr). 2015;37:9788 pubmed publisher
    ..Collectively, our results suggest that PMT1 deficiency enhances basal activity of the ER UPR and extends the RLS of yeast mother cells through a mechanism that requires both IRE1 and HAC1. ..
  2. Swidergall M, van Wijlick L, Ernst J. Signaling domains of mucin Msb2 in Candida albicans. Eukaryot Cell. 2015;14:359-70 pubmed publisher
    ..We concluded that Msb2 fulfills its numerous functions by employing functional domains that are distributed over its entire length. ..
  3. González M, Brito N, González C. Identification of glycoproteins secreted by wild-type Botrytis cinerea and by protein O-mannosyltransferase mutants. BMC Microbiol. 2014;14:254 pubmed publisher
    ..Glycosylation of secretory proteins is very prevalent in B. cinerea and affects members of diverse protein families. O-glycosylated proteins play a role in the elicitation of plant defenses. ..
  4. Johnson K, Bertoli M, Phillips L, Topf A, Van den Bergh P, Vissing J, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8:23 pubmed publisher
    ..FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2...
  5. Rubio Fernández M, Uribe M, Vicente Tejedor J, Germain F, Susín Lara C, Quereda C, et al. Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. Sci Rep. 2018;8:8543 pubmed publisher
    ..Therefore, O-mannosylation of α-DG in the retina carried out by POMT1 is crucial for the establishment of proper synapses at the OPL and transmission of visual information from cones and rods to their postsynaptic neurons. ..
  6. Brun B, Willer T, Darbro B, Gonorazky H, Naumenko S, Dowling J, et al. Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord. 2018;28:592-596 pubmed publisher
    ..with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy...
  7. Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, et al. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. J Hum Genet. 2016;61:753-9 pubmed publisher
    ..We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients. ..
  8. Alonso Rangel L, Benítez Guerrero T, Martínez Vieyra I, Cisneros B, Martínez Tovar A, Winder S, et al. A role for dystroglycan in the pathophysiology of acute leukemic cells. Life Sci. 2017;182:1-9 pubmed publisher
    ..while the messenger RNA (mRNA) expression of enzymes involved in ?-Dg glycosylation, such as POMGnT1, POMT1, POMT2, LARGE, FKTN, and FKRP, were evaluated by qualitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR)...
  9. Pramanick P, Chakraborty A, Raychaudhuri S. Phenotypic and biochemical alterations in relation to MT2 gene expression in Plantago ovata Forsk under zinc stress. Biometals. 2017;30:171-184 pubmed publisher
    ..Data show up to 1.66 fold increase in expression of PoMT2 in 1000 µM ZnSO4·7H2O treated sample...
  10. Zatorska E, Gal L, Schmitt J, Bausewein D, Schuldiner M, Strahl S. Cellular Consequences of Diminished Protein O-Mannosyltransferase Activity in Baker's Yeast. Int J Mol Sci. 2017;18: pubmed publisher
    ..cerevisiae Pmt1 and Pmt2 proteins are highly similar on the sequence, as well as the structural level and act as a complex, we identified only Pmt2, but not Pmt1, as an Ost3-specific substrate protein. ..
  11. Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, et al. Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. J Cell Mol Med. 2017;21:1388-1393 pubmed publisher
    ..Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease. ..
  12. Kim H, Thak E, Lee D, Agaphonov M, Kang H. Hansenula polymorpha Pmt4p Plays Critical Roles in O-Mannosylation of Surface Membrane Proteins and Participates in Heteromeric Complex Formation. PLoS ONE. 2015;10:e0129914 pubmed publisher
    ..polymorpha. ..
  13. Uribe M, Haro C, Ventero M, Campello L, Cruces J, Martín Nieto J. Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. Mol Vis. 2016;22:658-73 pubmed
    ..The intranuclear distribution of POMT1 and POMT2, the two enzymes preceding POMGnT1 in the α-DG O-mannosyl glycosylation pathway, was also analyzed...
  14. Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, et al. Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. J Neurol Sci. 2012;318:45-50 pubmed publisher
    ..Mutations in genes coding for proven or putative glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, and LARGE), the DPM3 gene encoding a DOL-P-Man synthase subunit, and the DAG1 gene ..
  15. Carlson C, McGaughey S, Eskuri J, Stephan C, Zimmerman M, Mathews K. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017;89:2374-2380 pubmed publisher
    ..Altogether (history or survey), 21 patients with DG, with mutations in FKRP, FKTN, POMT1, POMT2, or POMGNT1, reported AIAW...
  16. Hu H, Liu Y, Bampoe K, He Y, Yu M. Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder. Genes (Basel). 2016;7: pubmed
    ..this hypothesis, we evaluated spatial learning of cerebral cortex-specific protein O-mannosyltransferase 2 (POMT2, an enzyme required for O-mannosyl glycosylation) knockout mice and compared to the knockout mice that were ..
  17. van Wijlick L, Geissen R, Hilbig J, Lagadec Q, Cantero P, Pfeifer E, et al. Dom34 Links Translation to Protein O-mannosylation. PLoS Genet. 2016;12:e1006395 pubmed publisher
    ..Its translational function as an RNA binding protein acting at the 5'-UTR of specific transcripts adds another facet to the known ribosome-releasing functions of Dom34 at the 3'-UTR of transcripts. ..
  18. Nabhan M, ElKhateeb N, Braun D, Eun S, Saleem S, YungGee H, et al. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 2017;173:2697-2702 pubmed publisher
    ..at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-..
  19. Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter M, et al. Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. Am J Med Genet A. 2017;173:3082-3086 pubmed publisher
    ..revealed absent ?-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy.
  20. Larsen I, Narimatsu Y, Joshi H, Siukstaite L, Harrison O, Brasch J, et al. Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. Proc Natl Acad Sci U S A. 2017;114:11163-11168 pubmed publisher
    ..initiation of cdh/protocadherin (pcdh) O-Man glycosylation is not dependent on the evolutionary conserved POMT1/POMT2 enzymes that initiate O-Man glycosylation on ?-DG...
  21. Fukuda S, Sumii M, Masuda Y, Takahashi M, Koike N, Teishima J, et al. Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family. Biochem Biophys Res Commun. 2001;280:407-14 pubmed
    ..protein O-mannosyltransferase (Pmt) proteins of Saccharomyces cerevisiae, the human homologues of Pmt (POMT1 and POMT2) and Drosophila melanogaster rotated abdomen (rt) protein...
  22. Endo T, Manya H, Seta N, Guicheney P. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. Methods Enzymol. 2010;479:343-52 pubmed publisher
    ..Mutations in six genes (POMT1, POMT2, POMGNT1, FKTN, FKRP, and LARGE) have been identified in patients with alpha-dystroglycanopathies...
  23. Willer T, Amselgruber W, Deutzmann R, Strahl S. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. Glycobiology. 2002;12:771-83 pubmed
    ..A detailed characterization of the mammalian POMT2, with emphasis on mouse Pomt2, shows that mammalian POMT2 is predominantly expressed in testis tissue...
  24. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:2725-35 pubmed
    ..Ninety-two probands were screened for mutations in POMT1, POMT2, POMGnT1, fukutin and LARGE...
  25. Lommel M, Willer T, Strahl S. POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. Glycobiology. 2008;18:615-25 pubmed publisher
    ..In mammals the protein O-mannosyltransferases POMT1 and POMT2 act as a heteromeric complex to initiate O-mannosylation in the endoplasmic reticulum...
  26. Østergaard S, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, et al. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2017;: pubmed publisher
    ..have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials...
  27. Akasaka Manya K, Manya H, Hayashi M, Endo T. Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2. Biochem Biophys Res Commun. 2011;411:721-5 pubmed publisher
    Protein O-mannosyltransferase 1 (POMT1) and its homolog, POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis...
  28. Larsen I, Narimatsu Y, Joshi H, Yang Z, Harrison O, Brasch J, et al. Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2. J Biol Chem. 2017;292:11586-11598 pubmed publisher
    ..catalyzing O-Man biosynthesis, including the two human protein O-mannosyltransferases, POMT1 and POMT2, underlie a subgroup of congenital muscular dystrophies designated ?-dystroglycanopathies, because deficient O-<..
  29. Yanagisawa A, Bouchet C, Quijano Roy S, Vuillaumier Barrot S, Clarke N, Odent S, et al. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet. 2009;52:201-6 pubmed publisher
    ..Although six genetic causes have been identified (FKTN, POMGNT1, POMT1, POMT2, FKRP, and LARGE) many alpha-dystroglycanopathy patients remain without a genetic diagnosis after standard exon ..
  30. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi G, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802-9 pubmed publisher
    ..As part of a multicentric study involving all the tertiary neuromuscular centers in Italy, FKRP, POMT1, POMT2, POMGnT1, fukutin, and LARGE were screened in 81 patients with CMD and alpha-DG reduction on muscle biopsy (n = 76)..
  31. Baker R, Nakamura N, Chandel I, Howell B, Lyalin D, Panin V. Protein O-Mannosyltransferases Affect Sensory Axon Wiring and Dynamic Chirality of Body Posture in the Drosophila Embryo. J Neurosci. 2018;38:1850-1865 pubmed publisher
    Genetic defects in protein O-mannosyltransferase 1 (POMT1) and POMT2 underlie severe muscular dystrophies. POMT genes are evolutionarily conserved in metazoan organisms...
  32. Manya H, Akasaka Manya K, Nakajima A, Kawakita M, Endo T. Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. J Biochem. 2010;147:337-44 pubmed publisher
    The complex of protein O-mannosyltransferase 1 (POMT1) and POMT2 catalyzes the initial step of O-mannosyl glycan biosynthesis...
  33. Yanagisawa A, Bouchet C, Van den Bergh P, Cuisset J, Viollet L, Leturcq F, et al. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology. 2007;69:1254-60 pubmed
    ..of alpha-dystroglycan, and caused by mutations in at least six genes encoding enzymes: FKTN, POMGNT1, POMT1, POMT2, FKRP, and LARGE...
  34. Becker K, Haldimann K, Selchow P, Reinau L, Dal Molin M, Sander P. Lipoprotein Glycosylation by Protein-O-Mannosyltransferase (MAB_1122c) Contributes to Low Cell Envelope Permeability and Antibiotic Resistance of Mycobacterium abscessus. Front Microbiol. 2017;8:2123 pubmed publisher
    ..The results provide a link between post-translational modification of lipoproteins and the permeability of the mycobacterial cell envelope which stresses the importance of lipoproteins as components of this complex structure...
  35. Murakami T, Hayashi Y, Ogawa M, Noguchi S, Campbell K, Togawa M, et al. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. Brain Dev. 2009;31:465-8 pubmed publisher
    We report a patient harboring a novel homozygous mutation of c.604T>G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal...
  36. Izquierdo Lahuerta A, de Luis O, Gómez Esquer F, Cruces J, Coloma A. Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis. Biochem Biophys Res Commun. 2016;478:1043-8 pubmed publisher
    ..variable, appearing Walker-Warburg as the most severe where mutations at protein O-mannosyl transferases POMT1 and POMT2 genes are frequently described...
  37. Van den Bergh P, Sznajer Y, Van Parys V, van Tol W, Wevers R, Lefeber D, et al. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord. 2017;27:1043-1046 pubmed publisher
    ..Our findings show that DPM3 mutations may lead to an isolated and mild limb girdle muscular dystrophy phenotype without cardiomyopathy. ..
  38. Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun. 2007;363:1033-7 pubmed
    ..Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
  39. Martinez H, Craigen W, Ummat M, Adesina A, Lotze T, Jefferies J. Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy. Eur J Hum Genet. 2014;22:486-91 pubmed publisher
    ..In particular, POMT2 (protein O-mannosyltransferase-2) mutations have been identified in congenital muscular dystrophy patients with a ..
  40. Vajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis. 2006;1:29 pubmed
    ..Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes...
  41. Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D Amico A, et al. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord. 2008;18:565-71 pubmed publisher
    Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and subsequently reported in patients with milder phenotypes characterised by mental retardation with or without brain abnormalities and ..