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Gene Review

GNE  -  glucosamine (UDP-N-acetyl)-2-epimerase/N...

Homo sapiens

Synonyms: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, DMRV, GLCNE, IBM2, NM, ...
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Disease relevance of GNE


Psychiatry related information on GNE


High impact information on GNE


Chemical compound and disease context of GNE


Biological context of GNE


Anatomical context of GNE


Associations of GNE with chemical compounds

  • Recently, HIBM was shown to be associated with the mutations in the gene encoding the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) [15].
  • This subcellular localization of GNE is in good agreement with its established role as the key enzyme of sialic acid biosynthesis, since the sialylation of glycoconjugates takes place in the Golgi complex [12].
  • Upon nocodazole treatment, GNE redistributes to the cytoplasm suggesting that GNE may act as a nucleocytoplasmic shuttling protein [12].
  • AR hIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene on chromosome 9p12-13 . We report two unrelated Tunisian families with clinical and pathological features of AR HIBM [16].
  • A novel homozygous G-to-A mutation (128933G-->A) in exon 7 changing a valine to isoleucine (V367I) in the epimerase domain of the GNE gene was found [17].

Other interactions of GNE

  • Mutation analysis of the GNE gene associated with IBM2 in affected individuals from four IBMPFD families did not identify any mutations, indicating that the two disorders are not allelic [1].
  • Parallel to this study, the gene termed GNE, approximately 50 kb centromeric to C9orf19, was shown to be the disease causing gene in IBM2 [18].
  • The RNF38 genomic structure was determined and comprises at least 13 exons extending over more than 65 kb in the genome, 78 kb centromeric to the GNE gene on human chromosome 9p12-p13 [19].
  • Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes [20].
  • NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations [21].

Analytical, diagnostic and therapeutic context of GNE


  1. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Watts, G.D., Thorne, M., Kovach, M.J., Pestronk, A., Kimonis, V.E. Neuromuscul. Disord. (2003) [Pubmed]
  2. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. Neurology (2002) [Pubmed]
  3. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Huizing, M., Rakocevic, G., Sparks, S.E., Mamali, I., Shatunov, A., Goldfarb, L., Krasnewich, D., Gahl, W.A., Dalakas, M.C. Mol. Genet. Metab. (2004) [Pubmed]
  4. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. J. Hum. Genet. (2002) [Pubmed]
  5. Journey into muscular dystrophies caused by abnormal glycosylation. Muntoni, F. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004) [Pubmed]
  6. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Kovach, M.J., Waggoner, B., Leal, S.M., Gelber, D., Khardori, R., Levenstien, M.A., Shanks, C.A., Gregg, G., Al-Lozi, M.T., Miller, T., Rakowicz, W., Lopate, G., Florence, J., Glosser, G., Simmons, Z., Morris, J.C., Whyte, M.P., Pestronk, A., Kimonis, V.E. Mol. Genet. Metab. (2001) [Pubmed]
  7. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Sanoudou, D., Haslett, J.N., Kho, A.T., Guo, S., Gazda, H.T., Greenberg, S.A., Lidov, H.G., Kohane, I.S., Kunkel, L.M., Beggs, A.H. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  8. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Malicdan, M.C., Noguchi, S., Nonaka, I., Hayashi, Y.K., Nishino, I. Hum. Mol. Genet. (2007) [Pubmed]
  9. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Arai, A., Tanaka, K., Ikeuchi, T., Igarashi, S., Kobayashi, H., Asaka, T., Date, H., Saito, M., Tanaka, H., Kawasaki, S., Uyama, E., Mizusawa, H., Fukuhara, N., Tsuji, S. Ann. Neurol. (2002) [Pubmed]
  10. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Del Bo, R., Baron, P., Prelle, A., Serafini, M., Moggio, M., Fonzo, A.D., Castagni, M., Bresolin, N., Comi, G.P. Muscle Nerve (2003) [Pubmed]
  11. Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. Hong, Y., Stanley, P. J. Biol. Chem. (2003) [Pubmed]
  12. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Krause, S., Hinderlich, S., Amsili, S., Horstkorte, R., Wiendl, H., Argov, Z., Mitrani-Rosenbaum, S., Lochmüller, H. Exp. Cell Res. (2005) [Pubmed]
  13. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Salama, I., Hinderlich, S., Shlomai, Z., Eisenberg, I., Krause, S., Yarema, K., Argov, Z., Lochmuller, H., Reutter, W., Dabby, R., Sadeh, M., Ben-Bassat, H., Mitrani-Rosenbaum, S. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  14. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Sparks, S.E., Ciccone, C., Lalor, M., Orvisky, E., Klootwijk, R., Savelkoul, P.J., Dalakas, M.C., Krasnewich, D.M., Gahl, W.A., Huizing, M. Glycobiology (2005) [Pubmed]
  15. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishimiya, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I. Neurology (2002) [Pubmed]
  16. Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. Amouri, R., Driss, A., Murayama, K., Kefi, M., Nishino, I., Hentati, F. Neuromuscul. Disord. (2005) [Pubmed]
  17. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Krause, S., Schlotter-Weigel, B., Walter, M.C., Najmabadi, H., Wiendl, H., Müller-Höcker, J., Müller-Felber, W., Pongratz, D., Lochmüller, H. Neuromuscul. Disord. (2003) [Pubmed]
  18. Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domain. Eisenberg, I., Barash, M., Kahan, T., Mitrani-Rosenbaum, S. Gene (2002) [Pubmed]
  19. Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain. Eisenberg, I., Hochner, H., Levi, T., Yelin, R., Kahan, T., Mitrani-Rosenbaum, S. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  20. Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes. Suzuki, N., Aoki, M., Mizuno, H., Onodera, Y., Takahashi, T., Nagata, T., Tateyama, M., Itoyama, Y. Muscle Nerve (2005) [Pubmed]
  21. NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G.M., Tonali, P.A., Mirabella, M. Neurology (2006) [Pubmed]
  22. The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. Weidemann, W., Stelzl, U., Lisewski, U., Bork, K., Wanker, E.E., Hinderlich, S., Horstkorte, R. FEBS Lett. (2006) [Pubmed]
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