Property Summary

NCBI Gene PubMed Count 89
PubMed Score 263.62
PubTator Score 211.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Gene RIF (57)

PMID Text
25986339 Novel GNE mutations were linked to GNE myopathy in patients from mainland China.
25966635 This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population.
25510413 examined the consequences of the mutated GNEM743T enzyme in myoblasts cultures, depicted by the pattern of central signaling proteins of the PI3K/AKT, BCL2 and ARTS/XIAP pathways
25002140 GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities--{REVIEW}
24796702 Multiple GNE mutations are associated with GNE myopathy.
24685570 NCBI GenBank accession numbers for the two major isoforms hGNE1 and hGNE2 and their ENSEMBL IDs, as well as discussion of nomenclature changes
24474513 mutation in UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) affects beta1-integrin-mediated cell adhesion process in GNE mutant cells
24027297 we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease
24005727 The results of this study showed the presence of a common mutation in GNE gene in patient with myopathy in India.
23842869 GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)
23841835 In two Jewish Iranian unrelated families with hereditary inclusion body myopathy, 6 patients were found homozygous for the c.2135 T>C (p.M712T) mutation in exon 12 of GNE.
23549799 Clinical features of GNE myopathy was not associated with the site of mutation within the GNE gene.
23437777 Eight novel GNE mutations were discovered among seven patients with autosomal recessive hereditaryclusion body myopathy. Of the eight novel GNE mutations, seven were missense and one was nonsense.
23278550 the prevalence of GNE p.M712T and hereditary inclusion body myopathy is higher in the Sangesar population, comprised mostly of Muslim and Bahai descendants, compared with the general world population
23238814 Gne (M712T/M712T)knockin offspring generations could be classified into 3 phenotypic categories: severe, mild & without apparent phenotype. Gne defects can affect both muscle & kidney in mouse, but probably through different mechanisms.
22883483 This stuidy demonistrated that some patients with GNE mutations were associated with a distinct phenotype of limb-girdle myopathy.
22507750 Participants with homozygous mutations in the N-acetylmannosamine kinase domain have an earlier disease onset than heterozygous participants with mutations in the uridine diphosphate-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase domains.
22349865 The results of this study indicated that no cases showed missense mutations in the GNE.
22343627 analysis of the crystal structures of the human N-acetylmannosamine kinase (MNK) domain of UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase in complexes with ManNAc
22231866 The results of this study defined a pattern of muscle involvement that appears peculiar to GNE myopathy
22196754 Eighteen mutations in GNE gene are identified in Chinese distal myopathy with rimmed vacuoles patients.
22049060 GNE up-regulation occurred predominantly in pancreatic cancer but also in other malignancies.
21910480 Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase
21868336 One nonsense mutation and 5 missense mutations wre identified in the GNE gene in chinese patients with distal myopathy with rimmed vacuoles.
21708040 The linkage scan excluded the majority of known myopathy genes, but one linkage peak included the gene GNE, in which mutations cause autosomal recessive hereditary inclusion body myopathy type 2 (HIBM2).
21584309 Stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the sialic acid biosynthetic pathway, dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins.
21131200 two unrelated American hereditary inclusion body myopathy type 2 patients with novel GNE mutations
20346669 2 Italian sisters affected with autosomal-recessive hereditary inclusion-body myopathy were compound heterozygous for a novel GNE mutation: a p.A310P amino acid change along with a p.R246W mutation on second allele both in the epimerase domain
20300792 Based on our clinical experience and on the growing number of mutations reported, GNE mutations are not rare and should be ruled out in all patients presenting with a distal vacuolar myopathy, either autosomically recessive inherited or sporadic.
20175955 in 2 sibs with hereditary inclusion body myopathy,mutation analysis revealed compound heterozygous mutations in GNE gene:missense mutation (c.2086G >A; p.V696M) & novel frame shift mutation(c.1295delA; p.K432RfsX17)leading to a premature stopcodon
20059379 Ten novel mutations were identified among nine patients, including four nonsense (p.R8X, p.W204X, p.Q436X, and p.S615X) and five missense (p.R71W, p.I142T, p.I298T, p.L556S, and p.E2G) variations spanning both the epimerase and kinase domains of GNE.
19917666 modeling of active sites of human GNE/MNK and identification of critical amino acid residues responsible for interactions with substrates.
19845164 in myonuclei seems to play some role in rimmed vacuole formation in distal myopathy with rimmed vacuoles
19841673 the crystal structure of the kinase domain of GNE provides a structural basis for understanding disease-causing mutations and a model of hexameric wild type full length enzyme
18815882 These data therefore suggest a role of GNE1 in basic supply of cells with sialic acids, whereas splice variants GNE2 and GNE3 may have a function in fine-tuning of the sialic acid pathway.
18698493 Ceramide and its metabolite-induced cell death are regulated by the amount of sialic acid on the cell surface which in turn is regulated by mRNA expression of UDP-GlcNAc2-epimerase [uridine diphosphate-N-acetylglucosamine 2-epimerase]
18653764 inhibition of GNE-epimerase activity by CMP-sialic acid recovered after silencing demonstrating specificity of this effect.
18560563 interaction of GNE with alpha-actinin 1 might point to its involvement in alpha-actinin mediated processes
18373408 Observational study of genetic testing. (HuGE Navigator)
17718674 Hereditary inclusion body myopathy with a novel mutation(P511H ) in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
17704511 GNE mutation develops distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
17698786 Impaired UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) enzyme function, not lack of expression, may be the key pathogenic factor in hereditary inclusion body myopathy (HIBM).
17597614 Two novel isoforms of human GNE, namely GNE2 and GNE3, which possess extended and deleted N-termini, respectively, were characterized.
16847058 UDP-GlcNAc 2-epimerase/ManNAc 6-kinase has roles in modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation
16810679 Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with distal myopathy with rimmed vacuoles
15987957 The cell-free system was validated for GNE activity, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W) affected not only that domain's enzyme activity, but also the activity of the other domain.
15833430 This report two unrelated Tunisian families with clinical and pathological features of AR HIBM. One distinct homozygous GNE missense mutation, M712T and L379H.
15748884 A regulatory role for GNE shifting between the nuclear and the Golgi compartment is proposed. Further insight into GNE regulation may promote the understanding of hereditary inclusion body myopathy pathogenesis.
15670773 These results indicate that although mutations in each of the two GNE domains result in an impaired enzymatic activity and the same HIBM phenotype, they do not equally affect sialylation of muscle cells.
14707127 identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid
12927803 UDP-GlcNAc 2-epimerase/ManNAc kinase expression is regulated on the transcriptional level by DNA methylation
12921793 Expression studies indicate that GNE has a tissue-specific splice pattern, with four splice variants.
12497639 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12325084 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
12177386 Three novel missense mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene have been detected in Japanese patients with distal myopathy with rimmed vacuoles (DMRV).
11916006 Two siblings heterozygous for the mutations A460V and V572L. Both sibs had Nonaka myopathy (OMIM 605820).
11749051 Suggested as a candidate gene for a dominant syndrome that consists of inclusion body myopathy, Paget disease of bone, and dementia.

AA Sequence

MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINT      1 - 70
RLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSG     71 - 140
TIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVK    141 - 210
SKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVK    211 - 280
HVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQ    281 - 350
FGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR    351 - 420
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTK    421 - 490
LIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGS    491 - 560
SFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQA    561 - 630
AKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSD    631 - 700
LVDPALLGAASMVLDYTTRRIY                                                    701 - 722
//

Text Mined References (90)

PMID Year Title
25986339 2015 Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
25966635 2016 Genetics of GNE myopathy in the non-Jewish Persian population.
25510413 2015 Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts.
25416956 2014 A proteome-scale map of the human interactome network.
25002140 2015 GNE myopathy: current update and future therapy.
24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.
24685570 2014 GNE myopathy: new name and new mutation nomenclature.
24474513 2014 Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in ?1-integrin-mediated cell adhesion.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
24005727 GNE myopathy in India.
23842869 2015 UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
23841835 2014 Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.
23549799 2013 Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
23437777 2013 Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
23278550 2013 Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
23238814 2013 Variable phenotypes of knockin mice carrying the M712T Gne mutation.
22883483 2012 Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
22507750 2012 Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
22349865 2012 Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
22343627 2012 Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.
22231866 2012 Muscle imaging findings in GNE myopathy.
22196754 2011 Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
22049060 2012 Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells.
21910480 2011 Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
21868336 2011 [GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].
21708040 2011 Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
21584309 2011 Efficient metabolic oligosaccharide engineering of glycoproteins by UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) knock-down.
21269460 2011 Initial characterization of the human central proteome.
21131200 2011 Novel GNE mutations in two phenotypically distinct HIBM2 patients.
20346669 2010 Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
20300792 2010 The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
20175955 Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
20059379 2010 Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
19917666 2010 Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
19845164 2008 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
19841673 2009 Crystal structure of the N-acetylmannosamine kinase domain of GNE.
18815882 2009 Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE).
18698493 2008 UDP-GlcNAc2-epimerase regulates cell surface sialylation and ceramide-induced cell death in human malignant lymphoma.
18653764 2008 Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
18560563 2008 UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?
18373408 2008 Validation of GNE:p.M712T identification by melting curve analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17718674 2007 Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
17704511 2007 A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
17698786 2007 GNE protein expression and subcellular distribution are unaltered in HIBM.
17597614 2007 Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
16847058 2006 Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation.
16810679 2006 Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
15987957 2005 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
15833430 2005 Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy.
15748884 2005 Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.
15670773 2005 No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15146476 2004 Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
15136692 2004 Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
14972325 2004 Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
14707127 2004 Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12927803 2003 Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines.
12921793 2003 Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes.
12913203 2003 GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
12811782 2003 Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
12743242 2003 Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.
12612874 2003 Selective activation of N-acyl-D-glucosamine 2-epimerase expression in failing human heart ventricular myocytes.
12497639 2003 Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12473780 2002 An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
12473769 2002 GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
12473753 2002 Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
12409274 2002 Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).
12325084 2002 A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
12177386 2002 Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
11916006 2002 Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
11749051 2001 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.
11528398 2001 The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
11326336 2001 Dominant inheritance of sialuria, an inborn error of feedback inhibition.
10431835 1999 Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis.
10356312 1999 Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
10334995 1999 UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.
10330343 1999 Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
9305888 1997 A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase.
9305887 1997 A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8789455 1996 Hereditary inclusion body myopathy maps to chromosome 9p1-q1.
8439453 1993 Clinical and biochemical studies in an American child with sialuria.
2808337 1989 Identification of the metabolic defect in sialuria.
2443758 1987 Sialuria: a second case.