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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNE Gene

protein-coding   GIFtS: 65
GCID: GC09M036204

Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine...

(Previous name: UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine...)
(Previous symbol: IBM2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase1 2     NM2 5
IBM21 2 5     Uae12
GLCNE2 3 5     Bifunctional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine
Kinase2
UDP-N-Acetylglucosamine-2-Epimerase/N-Acetylmannosamine Kinase1 2     N-Acylmannosamine Kinase2
UDP-GlcNAc-2-Epimerase/ManAc Kinase2 3     UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase2
DMRV2 5     

External Ids:    HGNC: 236571   Entrez Gene: 100202   Ensembl: ENSG000001599217   OMIM: 6038245   UniProtKB: Q9Y2233   

Export aliases for GNE gene to outside databases

Previous GC identifers: GC09M036526 GC09M036383


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNE Gene:
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of
N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid
biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many
biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface
molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this
gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative
splicing of this gene results in transcript variants encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for GNE Gene: 
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) is a protein-coding gene. Diseases associated with GNE include sialuria, and inclusion body myopathy 2, and among its related super-pathways are Metabolism. GO annotations related to this gene include hydrolase activity and N-acylmannosamine kinase activity.

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223
Function: Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids.
Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic
cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of
malignant cells

Gene Wiki entry for GNE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GNE gene promoter:
         CREB   Sp1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNE promoter sequence
   Search SABiosciences Chromatin IP Primers for GNE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.1

GNE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNE gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M036204:  view genomic region     (about GC identifiers)

Start:
36,214,438 bp from pter      End:
36,277,053 bp from pter
Size:
62,616 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223 (See protein sequence)
Recommended Name: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase  
Size: 722 amino acids; 79275 Da
Subunit: Homodimer and homohexamer
Subcellular location: Cytoplasm (By similarity)
4 PDB 3D structures from and Proteopedia for GNE:
2YHW (3D)        2YHY (3D)        2YI1 (3D)        3EO3 (3D)    
Secondary accessions: A6PZH2 A6PZH3 A7UNU7 B2R6E1 B7Z372 B7Z428 D3DRP7 F5H499 Q0VA94
Alternative splicing: 5 isoforms:  Q9Y223-1   Q9Y223-2   Q9Y223-3   Q9Y223-4   Q9Y223-5   

Explore the universe of human proteins at neXtProt for GNE: NX_Q9Y223

Explore proteomics data for GNE at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by PKC (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y223

  • GNE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNE Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001121699.1  NP_001177312.1  NP_001177313.1  NP_001177317.1  NP_005467.1  

    ENSEMBL proteins: 
     ENSP00000379839   ENSP00000437765   ENSP00000445117   ENSP00000414760   ENSP00000367134  
     ENSP00000439155  

    Human Recombinant Protein Products for GNE: 
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    OriGene Protein Over-expression Lysate for GNE
    OriGene MassSpec for GNE 
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    GenScript Custom Purified and Recombinant Proteins Services for GNE
    Novus Biologicals GNE Proteins
    Novus Biologicals GNE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GNE 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9305888
    GO:0005829cytosol IEA--

    GNE for ontologies           About GeneDecksing



    GNE Antibody Products: 
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    ThermoFisher Antibodies for GNE
    LSBio Antibodies in human, mouse, rat for GNE 

    Assay Products for GNE: 
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    GenScript Custom Assay Services for GNE
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GNE 
    Cloud-Clone Corp. CLIAs for GNE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR003331 UDP_GlcNAc_Epimerase_2
     IPR001312 Hexokinase
     IPR000600 ROK
     IPR020004 UDP-GlcNAc_Epase

    Graphical View of Domain Structure for InterPro Entry Q9Y223

    ProtoNet protein and cluster: Q9Y223

    2 Blocks protein domains:
    IPB000600 ROK family
    IPB003331 UDP-N-acetylglucosamine 2-epimerase


    UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223
    Similarity: In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family
    Similarity: In the C-terminal section; belongs to the ROK (NagC/XylR) family


    GNE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLCNE_HUMAN, Q9Y223
    Function: Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids.
    Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic
    cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of
    malignant cells
    Catalytic activity: UDP-N-acetyl-alpha-D-glucosamine + H(2)O = N-acetyl-D-mannosamine + UDP
    Catalytic activity: ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate
    Enzyme regulation: Allosterically regulated (Probable); feedback inhibited by cytidine
    monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac), the end product of neuraminic acid biosynthesis. Activity is
    dependent on oligomerization. The monomer is inactive, whereas the dimer catalyzes only the phosphorylation of
    N-acetylmannosamine; the hexamer is fully active for both enzyme activities (By similarity). Up-regulated after
    PKC-dependent phosphorylation

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0008761UDP-N-acetylglucosamine 2-epimerase activity IEA--
    GO:0009384N-acylmannosamine kinase activity IEA--
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    GNE for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GNE:
     Decreased telomerase activity  Decreased viability 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gne):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  immune system 
     mortality/aging  muscle  renal/urinary system 

    GNE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GNE: Gnetm1Sngi Gnetm1Rhk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GNE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNE 

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate GNE (see all 29):
    hsa-miR-644 hsa-miR-320a hsa-miR-3673 hsa-miR-607 hsa-miR-548k hsa-miR-1271 hsa-miR-216b hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidGNE 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GNE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNE

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for GNE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GNE (NM_001128227)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNE
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                         Customized lentivirus expression plasmids for stable overexpression of GNE 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNE


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNE About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for GNE):
        Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223
    Pathway: Amino-sugar metabolism; N-acetylneuraminate biosynthesis


    GNE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/14 Interacting proteins for GNE (Q9Y2233 ENSP000003798394) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRMP1Q141943, ENSP000003216064I2D: score=1 STRING: ENSP00000321606
    RIF1Q5UIP03, ENSP000002433264I2D: score=1 STRING: ENSP00000243326
    KIAA1549Q9HCM33, ENSP000002423654I2D: score=1 STRING: ENSP00000242365
    ZBTB16Q055163, ENSP000003381574I2D: score=1 STRING: ENSP00000338157
    PIK3C2AO004433I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006045N-acetylglucosamine biosynthetic process IEA--
    GO:0006047UDP-N-acetylglucosamine metabolic process IEA--
    GO:0006054N-acetylneuraminate metabolic process TAS9305888
    GO:0007155cell adhesion TAS10334995
    GO:0009103lipopolysaccharide biosynthetic process IEA--

    GNE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GNE for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for GNE

    Browse Tocris compounds for GNE (GLCNE)

    10/11 HMDB Compounds for GNE (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    N-Acetyl-D-mannosamine 6-phosphateManNAc-6-P (see all 6)873185-52-5--
    N-Acetylmannosamine2-Acetamido-2-deoxy-D-mannose (see all 3)3615-17-6--
    N-Acetylneuraminic acidSialic acid (see all 55)131-48-6--
    Neuraminic acid5-(acetylamino)-3,5-dideoxy-beta-L-erythro-2-nonulopyranosonate (see all 5)114-04-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylglucosamineN-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)528-04-1--

    9 Novoseek inferred chemical compound relationships for GNE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udp-n-acetylglucosamine 97.4 130 15147877 (3), 19845164 (2), 18815882 (2), 15469965 (2) (see all 56)
    sialic acid 88.9 95 19426133 (4), 16137682 (3), 18628673 (3), 16550921 (2) (see all 44)
    cmp-n-acetylneuraminate 83.6 1 10330343 (1)
    n-acetylglucosamine 51 8 11308027 (2), 8439453 (1), 1312935 (1), 10824116 (1) (see all 5)
    glucosamine 38.1 1 20054407 (1)
    cytidine 27.3 1 2019577 (1)
    uridine 24.8 1 11956597 (1)
    ganglioside 19.1 3 17284758 (1), 16847058 (1)
    zinc 0 3 17118363 (2)

    Search CenterWatch for drugs/clinical trials and news about GNE / GLCNE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GNE gene (5 alternative transcripts): 
    NM_001128227.2  NM_001190383.1  NM_001190384.1  NM_001190388.1  NM_005476.5  

    Unigene Cluster for GNE:

    Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
    Hs.5920  [show with all ESTs]
    Unigene Representative Sequence: NM_005476
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396594(uc010mli.3 uc010mlj.3) ENST00000543356 ENST00000539208
    ENST00000447283 ENST00000377902(uc010mlh.3 uc010mlg.3 uc011lpl.2)
    ENST00000539815
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate GNE (see all 29):
    hsa-miR-644 hsa-miR-320a hsa-miR-3673 hsa-miR-607 hsa-miR-548k hsa-miR-1271 hsa-miR-216b hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidGNE 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for GNE
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    GenScript: all cDNA clones in your preferred vector (see all 5): GNE (NM_001128227)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNE
    Sirion Biotech Customized lentivirus for stable overexpression of GNE 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNE

    Additional mRNA sequence: 

    AF051852.1 AF155663.1 AJ238764.1 AK295562.1 AK296687.1 AK299488.1 AK312539.1 AM697708.1 
    AM697709.1 AY531126.1 AY531127.1 AY531128.1 BC121179.2 EU093084.1 

    12 DOTS entries:

    DT.95363776  DT.121169284  DT.100689242  DT.214146  DT.91711536  DT.100710379  DT.121169297  DT.214147 
    DT.95187946  DT.91679302  DT.91680309  DT.95171363 

    24/88 AceView cDNA sequences (see all 88):

    AI863421 BM918330 AA902332 H97553 AI611253 BF197948 BX951244 AA830608 
    AA669485 AA975828 AW026581 AF155663 AI079296 NM_005476 BM999446 AL578503 
    CA503236 AI472303 AL556196 BQ028222 AI367161 AA598417 BF591249 CR621697 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GNE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:              -                                                                           


    ECgene alternative splicing isoforms for GNE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNE expression in normal human tissues (normalized intensities)      GNE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATTTATT
    GNE Expression
    About this image


    GNE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Lung (Respiratory System)
             trachea   
     
     Limb (Muscoskeletal System)
             limb/forelimb   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   
     
     Gut Tube (Gastrointestinal Tract)
             Hindgut

    See GNE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNE

    SOURCE GeneReport for Unigene cluster: Hs.5920

    UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223
    Tissue specificity: Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal
    muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas,
    skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung,
    pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GNE gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gne1 , 5 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine more1, 5 87.16(n)1
    97.08(a)1
      4 (23.10 cM)5
    507981  NM_015828.31  NP_056643.31 
     440340755 
    chicken
    (Gallus gallus)
    Aves GNE1 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine more 80.56(n)
    92.09(a)
      427285  NM_001031432.2  NP_001026603.2 
    lizard
    (Anolis carolinensis)
    Reptilia GNE6
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylman...
    87(a)
    1 ↔ 1
    GL343201.1(2258117-2311048)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.96772 Transcribed sequence with moderate similarity to protein more 75.67(n)    137718480 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc776572 hypothetical protein MGC77657 73.74(n)   393857  BC063958.1 


    ENSEMBL Gene Tree for GNE (if available)
    TreeFam Gene Tree for GNE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1323 SNPs in GNE are shown (see all 1323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0179624
    Inclusion body myopathy 2 (IBM2)4--see VAR_0179622 A T mis40--------
    VAR_0217764
    Nonaka myopathy (NM)4--see VAR_0217762 R C mis40--------
    VAR_0179454
    Inclusion body myopathy 2 (IBM2)4--see VAR_0179452 P L mis40--------
    VAR_0217834
    Inclusion body myopathy 2 (IBM2)4--see VAR_0217832 A T mis40--------
    VAR_0179514
    Sialuria (SIALURIA)4--see VAR_0179512 R Q mis40--------
    VAR_0179584
    Inclusion body myopathy 2 (IBM2)4--see VAR_0179582 I T mis40--------
    VAR_0217794
    Nonaka myopathy (NM)4--see VAR_0217792 R Q mis40--------
    VAR_0217744
    Inclusion body myopathy 2 (IBM2)4--see VAR_0217742 M V mis40--------
    VAR_0179574
    Inclusion body myopathy 2 (IBM2)4--see VAR_0179572 F C mis40--------
    VAR_0217814
    Nonaka myopathy (NM)4--see VAR_0217812 I T mis40--------

    HapMap Linkage Disequilibrium report for GNE (36214438 - 36277053 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GNE:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1128958CNV Deletion17803354
    esv34080CNV Loss18971310
    nsv893049CNV Gain21882294
    nsv893051CNV Gain21882294


    Human Gene Mutation Database (HGMD): GNE

    Locus Specific Mutation Databases (LSDB): GNE
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603824   
    OMIM disorders: 269921  600737  605820  
    UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223
  • Sialuria (SIALURIA) [MIM:269921]: In sialuria, free sialic acid accumulates in the cytoplasm and gram
    quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback
    inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac.
    Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly.
    Sialuria inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Inclusion body myopathy 2 (IBM2) [MIM:600737]: Hereditary inclusion body myopathies are a group of
    neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a
    typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive
    disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also
    observed in Nonaka myopathy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Nonaka myopathy (NM) [MIM:605820]: Autosomal recessive muscular disorder, allelic to inclusion body
    myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early
    adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically
    characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/27 diseases for GNE (see all 27):    About MalaCards
    sialuria    inclusion body myopathy 2    gne-related myopathy    inclusion body myopathy, autosomal recessive
    sialuria, french type    oculopharyngodistal myopathy    inclusion body myopathy with paget disease of bone and/or frontotemporal dementia    zaspopathy
    paget's disease of bone    vacuolar myopathy    myopathy    frontotemporal dementia
    focal segmental glomerulosclerosis    neuromuscular disease    limb-girdle muscular dystrophy    dementia
    inclusion body myositis    muscular dystrophy    myositis    burkitt's lymphoma

    3 diseases from the University of Copenhagen DISEASES database for GNE:
    Sialuria     Myopathy     Neuropathy

    GNE for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for GNE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inclusion body myopathy 98.4 62 14678807 (2), 17704511 (2), 15147877 (2), 15987957 (1) (see all 40)
    distal myopathies 96.4 57 19845164 (2), 17704511 (2), 15136692 (2), 17164266 (2) (see all 23)
    nonaka myopathy 95 11 11916006 (4), 15034479 (1), 18555875 (1), 19841673 (1) (see all 5)
    myopathy 78.7 25 12811782 (2), 12497639 (1), 15034479 (1), 19838336 (1) (see all 17)
    sialic acid storage disease 74.7 1 12450772 (1)
    neuromuscular diseases 62.5 8 11916006 (1), 18560563 (1), 15147877 (1), 15670773 (1) (see all 5)
    muscular dystrophies 53.8 1 14972325 (1)
    inflammation 0 2 14678807 (1), 12913203 (1)
    cancer 0 1 15748884 (1)

    GeneTests: GNE
    GeneReviews: GNE
    Genetic Association Database (GAD): GNE
    Human Genome Epidemiology (HuGE) Navigator: GNE (1 document)

    Export disorders for GNE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GNE gene, integrated from 9 sources (see all 152):
    (articles sorted by number of sources associating them with GNE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nonaka myopathy is caused by mutations in the UDP-N- acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). (PubMed id 11916006)1, 2, 9 Kayashima T.... Kishino T. (2002)
    2. Crystal structure of the N-acetylmannosamine kinase d omain of GNE. (PubMed id 19841673)1, 2, 9 Tong Y....Park H.W. (2009)
    3. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). (PubMed id 12409274)1, 2, 9 Darvish D.... Huo Y. (2002)
    4. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. (PubMed id 15146476)1, 2, 9 Broccolini A.... Mirabella M. (2004)
    5. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (PubMed id 12497639)1, 2, 9 Eisenberg I.... Mitrani-Rosenbaum S. (2003)
    6. Novel missense mutation and large deletion of GNE gene in autosomal- recessive inclusion-body myopathy. (PubMed id 12811782)1, 2, 9 Del Bo R.... Comi G.P. (2003)
    7. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. (PubMed id 12325084)1, 2, 9 Arai A.... Tsuji S. (2002)
    8. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (PubMed id 12473753)1, 2, 9 Nishino I.... Nonaka I. (2002)
    9. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. (PubMed id 11528398)1, 2, 9 Eisenberg I.... Mitrani-Rosenbaum S. (2001)
    10. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. (PubMed id 10334995)1, 2, 9 Keppler O.T.... Pawlita M. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10020 HGNC: 23657 AceView: GNE Ensembl:ENSG00000159921 euGenes: HUgn10020
    ECgene: GNE Kegg: 10020 H-InvDB: GNE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GNE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNE Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNE

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GNE gene:
    Search GeneIP for patents involving GNE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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