DPM2

Summary

Gene Symbol: DPM2
Description: dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Alias: CDG1U, dolichol phosphate-mannose biosynthesis regulatory protein, DPM synthase complex subunit, DPM synthase subunit 2, dolichol-phosphate mannose synthase subunit 2, dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
Species: human
Products:     DPM2

Top Publications

  1. Barone R, Fiumara A, Jaeken J. Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol. 2014;34:357-66 pubmed publisher
    ..It has also been reported in some patients with ALG1-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, ALG8-CDG, PIGA-CDG, DPM1-CDG, DPM2-CDG, B4GALT1-CDG, SLC35A2-CDG, COG1-CDG, COG5-CDG, COG7-CDG, and COG8-CDG.
  2. Peter Ross E. Molecular hypotheses to explain the shared pathways and underlying pathobiological causes in catatonia and in catatonic presentations in neuropsychiatric disorders. Med Hypotheses. 2018;113:54-64 pubmed publisher
    ..SNORD115 controls five genes CRHR1, PBRM1, TAF1, DPM2, and RALGPS1 as well as the alternative splicing of serotonin 2C receptor...
  3. Juchimiuk M, Kruszewska J, Palamarczyk G. Dolichol phosphate mannose synthase from the pathogenic yeast Candida albicans is a multimeric enzyme. Biochim Biophys Acta. 2015;1850:2265-75 pubmed publisher
    ..albicans DPMS consists of three interacting subunits, among which Dpm1 and Dpm3 are indispensable, whereas Dpm2 increases enzymatic activity...
  4. Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). JIMD Rep. 2016;27:93-9 pubmed publisher
    ..We describe a series of patients with EOEE and genetically confirmed CDG (ALG3-CDG, ALG6-CDG, DPM2-CDG, ALG1-CDG). Epileptic seizures at onset included myoclonic and clonic fits and focal seizures...
  5. Yang L, Gao Z, Hu L, Wu G, Yang X, Zhang L, et al. Glycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in BxPC-3 Protein and Increases Cancer Cell Motility. J Biol Chem. 2016;291:3905-17 pubmed publisher
    ..We also identified six missense mutations in DPM2, PIG-C, PIG-N, and PIG-P alongside eight silent mutations...
  6. Khor C, Do T, Jia H, Nakano M, George R, Abu Amero K, et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016;48:556-62 pubmed publisher
    ..18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12))...
  7. Nongpiur M, Cheng C, Duvesh R, Vijayan S, Baskaran M, Khor C, et al. Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease. Ophthalmology. 2018;125:664-670 pubmed publisher
    ..8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays...
  8. Lennon G, Auffray C, Polymeropoulos M, Soares M. The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics. 1996;33:151-2 pubmed
  9. Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. EMBO J. 2000;19:2475-82 pubmed
    ..We reported previously that mammalian DPM synthase contains catalytic DPM1 and regulatory DPM2 subunits, and that DPM1 requires DPM2 for its stable expression in the endoplasmic reticulum...

More Information

Publications16

  1. Watanabe R, Murakami Y, Marmor M, Inoue N, Maeda Y, Hino J, et al. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. EMBO J. 2000;19:4402-11 pubmed
    ..Here, we report that GPI-GnT requires another component, termed PIG-P, and that DPM2, which regulates dolichol-phosphate-mannose synthase, also regulates GPI-GnT...
  2. Kinoshita T, Inoue N. Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis. Curr Opin Chem Biol. 2000;4:632-8 pubmed
    ..These studies have revealed the common and also different characteristics of glycosylphosphatidyl-inositol biosynthesis enzymes in different organisms, leading to the development of species-specific inhibitors of the pathway. ..
  3. Ashida H, Maeda Y, Kinoshita T. DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3. J Biol Chem. 2006;281:896-904 pubmed
    ..We previously identified DPM3, the third component of this enzyme, which was co-purified with DPM1 and DPM2. Here, we have established mutant Chinese hamster ovary (CHO) 2.38 cells that were defective in DPM3. CHO2...
  4. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012;72:550-8 pubmed publisher
    ..There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry...
  5. Marchese M, Pappalardo A, Baldacci J, Verri T, Doccini S, Cassandrini D, et al. Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan. Biochem Biophys Res Commun. 2016;477:137-143 pubmed publisher
    ..The three zebrafish ortholog subunits (encoded by the dpm1, dpm2 and dpm3 genes, respectively) showed high similarity to the human proteins, and their expression displayed ..
  6. Maeda Y, Tomita S, Watanabe R, Ohishi K, Kinoshita T. DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate. EMBO J. 1998;17:4920-9 pubmed
    ..Here we report expression cloning of a new gene, DPM2, which is defective in Lec15 cells...
  7. Wiggs J, Pasquale L. Genetics of glaucoma. Hum Mol Genet. 2017;26:R21-R27 pubmed publisher
    ..FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A)...