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Aliases for GNE Gene

Aliases for GNE Gene

  • Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase 2 3 5
  • Bifunctional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase 2 3
  • UDP-GlcNAc-2-Epimerase/ManAc Kinase 3 4
  • GLCNE 3 4
  • UDP-N-Acetylglucosamine-2-Epimerase/N-Acetylmannosamine Kinase 2
  • UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase 3
  • N-Acylmannosamine Kinase 3
  • DMRV 3
  • Uae1 3
  • IBM2 3
  • NM 3

External Ids for GNE Gene

Previous HGNC Symbols for GNE Gene

  • IBM2

Previous GeneCards Identifiers for GNE Gene

  • GC09M036526
  • GC09M036383
  • GC09M036204

Summaries for GNE Gene

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 Nonaka Myopathy. Among its related pathways are Transport to the Golgi and subsequent modification and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and UDP-N-acetylglucosamine 2-epimerase activity.

UniProtKB/Swiss-Prot for GNE Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNE Gene

Genomics for GNE Gene

Regulatory Elements for GNE Gene

Enhancers for GNE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F036206 1.1 Ensembl ENCODE 16 +69.3 69340 3.1 MLX ARID4B CREM THAP11 MIXL1 SP5 REST PPARG KAT8 SSRP1 GNE RNU4-53P GLIPR2 CLTA PIR52930
GH09F036256 1.1 ENCODE 15.9 +18.9 18917 2.6 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GNE RGP1 CLTA LOC102724322 RNU4-53P
GH09F036295 1 Ensembl ENCODE 14.2 -20.0 -19986 4.0 KLF1 STAT1 CEBPB KLF17 DPF2 GTF3C2 GATA3 ZFHX2 CTBP1 PRDM10 GNE RGP1 FAM221B HMGB3P24 PIR32038
GH09F036419 1.2 Ensembl ENCODE 9.9 -142.9 -142919 1.6 ZFP64 ARID4B ZNF48 YY1 FOS ZNF263 SP5 KAT8 NFIL3 RCOR2 RNF38 MELK GNE MRPS21P4
GH09F036276 0.6 ENCODE 17.1 +0.1 65 1.4 ZNF335 TBP TAF1 RAD21 PRDM1 YY1 ZBTB17 GNE RNU4-53P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNE on UCSC Golden Path with GeneCards custom track

Promoters for GNE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001908626 56 800 ZNF335 RAD21 PRDM1 YY1 ZBTB17

Genomic Location for GNE Gene

Chromosome:
9
Start:
36,214,441 bp from pter
End:
36,277,056 bp from pter
Size:
62,616 bases
Orientation:
Minus strand

Genomic View for GNE Gene

Genes around GNE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNE Gene

Proteins for GNE Gene

  • Protein details for GNE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y223-GLCNE_HUMAN
    Recommended name:
    Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
    Protein Accession:
    Q9Y223
    Secondary Accessions:
    • A6PZH2
    • A6PZH3
    • A7UNU7
    • B2R6E1
    • B7Z372
    • B7Z428
    • D3DRP7
    • F5H499
    • H0YFA7
    • Q0VA94

    Protein attributes for GNE Gene

    Size:
    722 amino acids
    Molecular mass:
    79275 Da
    Quaternary structure:
    • Homodimer and homohexamer.
    SequenceCaution:
    • Sequence=BAH12414.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GNE Gene

    Alternative splice isoforms for GNE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNE Gene

Post-translational modifications for GNE Gene

No data available for DME Specific Peptides for GNE Gene

Domains & Families for GNE Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y223

UniProtKB/Swiss-Prot:

GLCNE_HUMAN :
  • In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.
Family:
  • In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.
  • In the C-terminal section; belongs to the ROK (NagC/XylR) family.
genes like me logo Genes that share domains with GNE: view

No data available for Gene Families for GNE Gene

Function for GNE Gene

Molecular function for GNE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-glucosamine + H(2)O = N-acetyl-D-mannosamine + UDP.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for GNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0008761 UDP-N-acetylglucosamine 2-epimerase activity TAS --
genes like me logo Genes that share ontologies with GNE: view
genes like me logo Genes that share phenotypes with GNE: view

Human Phenotype Ontology for GNE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNE Gene

MGI Knock Outs for GNE:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNE Gene

Localization for GNE Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNE Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNE gene
Compartment Confidence
cytosol 5
plasma membrane 2
mitochondrion 2
nucleus 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9305888
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GNE: view

Pathways & Interactions for GNE Gene

genes like me logo Genes that share pathways with GNE: view

UniProtKB/Swiss-Prot Q9Y223-GLCNE_HUMAN

  • Pathway: Amino-sugar metabolism; N-acetylneuraminate biosynthesis.

Gene Ontology (GO) - Biological Process for GNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006045 N-acetylglucosamine biosynthetic process IEA --
GO:0006047 UDP-N-acetylglucosamine metabolic process IEA --
GO:0006054 N-acetylneuraminate metabolic process TAS 9305888
GO:0007155 cell adhesion TAS 10334995
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GNE: view

No data available for SIGNOR curated interactions for GNE Gene

Drugs & Compounds for GNE Gene

(8) Drugs for GNE Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
N-Acetyl-D-glucosamine Approved Nutra 0
Cytidine Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(11) Additional Compounds for GNE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
873185-52-5
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
131-48-6
neuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-beta-L-erythro-2-nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-beta-L-erythro-2-nonulopyranosonic acid
  • Neuraminate
  • O-Sialate
  • O-Sialic acid
114-04-5
genes like me logo Genes that share compounds with GNE: view

Transcripts for GNE Gene

Unigene Clusters for GNE Gene

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNE Gene

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

Relevant External Links for GNE Gene

GeneLoc Exon Structure for
GNE
ECgene alternative splicing isoforms for
GNE

Expression for GNE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNE Gene

This gene is overexpressed in Liver (x5.1).

Protein differential expression in normal tissues from HIPED for GNE Gene

This gene is overexpressed in Breast (34.4) and Cervix (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNE Gene



Protein tissue co-expression partners for GNE Gene

NURSA nuclear receptor signaling pathways regulating expression of GNE Gene:

GNE

SOURCE GeneReport for Unigene cluster for GNE Gene:

Hs.5920

mRNA Expression by UniProt/SwissProt for GNE Gene:

Q9Y223-GLCNE_HUMAN
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.
genes like me logo Genes that share expression patterns with GNE: view

Orthologs for GNE Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNE 34 35
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia GNE 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNE 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNE 34 35
  • 93.77 (n)
dog
(Canis familiaris)
Mammalia GNE 34 35
  • 92.59 (n)
rat
(Rattus norvegicus)
Mammalia Gne 34
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Gne 34 16 35
  • 87.16 (n)
chicken
(Gallus gallus)
Aves GNE 34 35
  • 80.56 (n)
lizard
(Anolis carolinensis)
Reptilia GNE 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gne 34
  • 76.5 (n)
Str.9677 34
zebrafish
(Danio rerio)
Actinopterygii gne 34 35
  • 70.68 (n)
zgc77657 34
Species where no ortholog for GNE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNE Gene

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

Paralogs for GNE Gene

No data available for Paralogs for GNE Gene

Variants for GNE Gene

Sequence variations from dbSNP and Humsavar for GNE Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121908621 Sialuria (SIALURIA) [MIM:269921], Pathogenic 36,234,106(-) TGATG(C/T)GGAAG reference, missense
rs121908622 Sialuria (SIALURIA) [MIM:269921], Pathogenic 36,234,105(-) GATGC(A/G)GAAGA reference, missense
rs121908623 Sialuria (SIALURIA) [MIM:269921], Pathogenic 36,234,114(-) GGTTC(G/T)AGTGA reference, missense
rs121908625 Nonaka myopathy (NM) [MIM:605820], Pathogenic 36,219,927(-) GGATG(A/G)GCCTG reference, missense
rs121908626 Nonaka myopathy (NM) [MIM:605820], Pathogenic 36,218,225(-) AAGCT(A/G)CGAAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GNE Gene

Variant ID Type Subtype PubMed ID
nsv473387 CNV novel sequence insertion 20440878
nsv1125318 OTHER inversion 24896259
nsv1017711 CNV gain 25217958
esv3620391 CNV gain 21293372
esv3620390 CNV loss 21293372
esv34080 CNV loss 18971310
esv1128958 CNV deletion 17803354

Variation tolerance for GNE Gene

Residual Variation Intolerance Score: 6.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNE Gene

Human Gene Mutation Database (HGMD)
GNE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNE Gene

Disorders for GNE Gene

MalaCards: The human disease database

(18) MalaCards diseases for GNE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sialuria
  • infantile sialic acid storage disease
nonaka myopathy
  • distal myopathy with rimmed vacuoles
inclusion body myopathy, autosomal recessive
inclusion body myositis
  • distal myopathy with rimmed vacuoles
gne-related myopathy
  • distal myopathy with rimmed vacuoles
- elite association - COSMIC cancer census association via MalaCards
Search GNE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLCNE_HUMAN
  • 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. {ECO:0000269 PubMed:11528398, ECO:0000269 PubMed:11916006, ECO:0000269 PubMed:12177386, ECO:0000269 PubMed:12325084, ECO:0000269 PubMed:12409274, ECO:0000269 PubMed:12473753, ECO:0000269 PubMed:12473769, ECO:0000269 PubMed:12473780, ECO:0000269 PubMed:12497639, ECO:0000269 PubMed:12811782, ECO:0000269 PubMed:12913203, ECO:0000269 PubMed:15146476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10330343, ECO:0000269 PubMed:10356312, ECO:0000269 PubMed:2808337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNE

Genetic Association Database (GAD)
GNE
Human Genome Epidemiology (HuGE) Navigator
GNE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNE
genes like me logo Genes that share disorders with GNE: view

No data available for Genatlas for GNE Gene

Publications for GNE Gene

  1. Crystal structure of the N-acetylmannosamine kinase domain of GNE. (PMID: 19841673) Tong Y. … Park H.W. (PLoS ONE 2009) 3 4 22 64
  2. Prediction of three different isoforms of the human UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. (PMID: 17597614) Reinke S.O. … Hinderlich S. (FEBS Lett. 2007) 3 4 22 64
  3. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. (PMID: 15146476) Broccolini A. … Mirabella M. (Hum. Mutat. 2004) 3 4 22 64
  4. Novel missense mutation and large deletion of GNE gene in autosomal- recessive inclusion-body myopathy. (PMID: 12811782) Del Bo R. … Comi G.P. (Muscle Nerve 2003) 3 4 22 64
  5. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (PMID: 12497639) Eisenberg I. … Mitrani-Rosenbaum S. (Hum. Mutat. 2003) 3 4 22 64

Products for GNE Gene

Sources for GNE Gene

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