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GNE Gene

protein-coding   GIFtS: 67
GCID: GC09M036204

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

(Previous name: UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine...)
(Previous symbol: IBM2)
  See GNE-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gne-related myopathy. GO annotations related to this gene include hydrolase activity and UDP-N-acetylglucosamine 2-epimerase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNE gene promoter:
         CREB   Sp1   deltaCREB   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Phosphorylated by PKC (By similarity)1
  • Ubiquitination2 at Lys152, Lys195, Lys359
  • Modification sites at PhosphoSitePlus

  • See GNE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  
    Reactome Protein details: Q9Y223

    GNE Human Recombinant Protein Products:

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    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

     
    Search eBioscience for Proteins for GNE 

     
    antibodies-online proteins for GNE (7 products) 

     
    antibodies-online peptides for GNE

    GNE Antibody Products:

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    antibodies-online antibodies for GNE (37 products) 

    GNE Assay Products:

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    Cloud-Clone Corp. ELISAs for GNE
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    antibodies-online kits for GNE (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with GNE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008761UDP-N-acetylglucosamine 2-epimerase activity IEA--
    GO:0009384N-acylmannosamine kinase activity IEA--
    GO:0016787hydrolase activity IEA--
         
    Find genes that share ontologies with GNE           About GenesLikeMe


    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/body  homeostasis/metabolism  immune system 
     mortality/aging  muscle  renal/urinary system 

    Find genes that share phenotypes with GNE           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for GNE

    miRNA
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    miRTarBase miRNAs that target GNE:
    hsa-mir-21-5p (MIRT030677)

    Block miRNA regulation of human, mouse, rat GNE using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat GNE

    Gene Editing
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    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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNE
    Addgene plasmids for GNE 

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLCNE_HUMAN, Q9Y223: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    vacuole2
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with GNE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GNE About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism


    Find genes that share SuperPaths with GNE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GNE
        Sialic acid metabolism


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNE
    Interactions:

        Search GeneGlobe Interaction Network for GNE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for GNE (Q9Y2233 ENSP000003798394) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    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): Selected biological process terms (see all 7):    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--

    Find genes that share ontologies with GNE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GNE
      Browse compounds at ApexBio 

    Browse Tocris compounds for GNE (GLCNE)

    Selected 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)



    Find genes that share compounds with GNE           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
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      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 

    Selected AceView cDNA sequences (see all 88):

    AA975828 NM_005476 AI079296 AI472303 BX951244 BF591249 AL578503 BM918330 
    CR621697 BF197948 BM999446 CA503236 H98589 AI863421 AL556196 AI611253 
    AF155663 AI367161 AA669485 AA902332 AA598417 H97553 AW026581 AA830608 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNE expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Gut Tube (Gastrointestinal Tract)
             Hindgut
    GNE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNE Protein Expression

    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GNE gene from Selected 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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNE (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
    ----------
    rs289375941,2,,4
    CInclusion body myopathy 2 (IBM2)4 pathogenic136185326(-) CAGCAC/TGGTTC 10 T M mis10--------
    rs1219086271,2,,4
    C,FInclusion body myopathy 2 (IBM2)4 pathogenic136185375(-) TGGATA/G/TTGGTG 10 M V mis12NA EU 5871
    rs1219086321,2,,4
    CNonaka myopathy (NM)4 pathogenic136187867(-) TTGTTC/GTGTCT 10 L V mis10--------
    rs1394258901,2,,4
    CNonaka myopathy (NM)4 pathogenic136214046(+) TGCGAA/TCATGG 10 D V mis10--------
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 7 diseases for GNE:    
    About MalaCards
    sialuria    gne-related myopathy    oculopharyngodistal myopathy    inclusion body myositis
    muscular dystrophy with rimmed vacuoles    paget's disease of bone    myopathy

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

    Find genes that share disorders with GNE           About GenesLikeMe

    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)
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    PubMed articles for GNE gene, integrated from 10 sources (see all 155):
    (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. (J. Hum. Genet. 2002)
    2. Crystal structure of the N-acetylmannosamine kinase domain of GNE. (PubMed id 19841673)1, 2, 9 Tong Y.... Park H.W. (PLoS ONE 2009)
    3. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). (PubMed id 12409274)1, 2, 9 Darvish D.... Huo Y. (Mol. Genet. Metab. 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. (Hum. Mutat. 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. (Hum. Mutat. 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. (Muscle Nerve 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. (Ann. Neurol. 2002)
    8. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (PubMed id 12473753)1, 2, 9 Nishino I.... Nonaka I. (Neurology 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. (Nat. Genet. 2001)
    10. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. (PubMed id 10334995)1, 2, 9 Keppler O.T.... Pawlita M. (Science 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10020 HGNC: 23657 AceView: GNE Ensembl:ENSG00000159921 euGenes: HUgn10020
    ECgene: GNE Kegg: 10020 H-InvDB: GNE

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=GNE[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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