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Aliases for GNE Gene

Aliases for GNE Gene

  • Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase 2 3
  • GLCNE 3 4 6
  • UDP-N-Acetylglucosamine-2-Epimerase/N-Acetylmannosamine Kinase 2 3
  • UDP-GlcNAc-2-Epimerase/ManAc Kinase 3 4
  • DMRV 3 6
  • IBM2 3 6
  • NM 3 6
  • Bifunctional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase 3
  • UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase 3
  • N-Acylmannosamine Kinase 3
  • Uae1 3

External Ids for GNE Gene

Previous Symbols for GNE Gene

  • IBM2

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 gne-related myopathy and nonaka myopathy. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include hydrolase activity 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

Genomic Location for GNE Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNE Gene

Regulatory Elements 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

Proteomics data for GNE Gene at MOPED

Post-translational modifications for GNE Gene

Other Protein References for GNE Gene

No data available for DME Specific Peptides for GNE Gene

Domains for GNE Gene

UniProtKB/Swiss-Prot:

GLCNE_HUMAN
Family:
  • In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.:
    • Q9Y223
  • In the C-terminal section; belongs to the ROK (NagC/XylR) family.:
    • Q9Y223
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: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 --
GO:0009384 N-acylmannosamine kinase activity TAS --
genes like me logo Genes that share ontologies with GNE: view
genes like me logo Genes that share phenotypes with GNE: view

Animal Models for GNE Gene

MGI Knock Outs for GNE:

miRNA for GNE Gene

miRTarBase miRNAs that target GNE

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

Localization for GNE Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNE Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNE Gene COMPARTMENTS Subcellular localization image for GNE gene
Compartment Confidence
cytosol 2
nucleus 2
vacuole 2
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 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 for GNE Gene

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

Pathways by source for GNE Gene

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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0007155 cell adhesion TAS 10334995
genes like me logo Genes that share ontologies with GNE: view

Compounds for GNE Gene

(11) HMDB Compounds for GNE Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Cytidine
  • 1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine
65-46-3
N-Acetyl-D-glucosamine
  • 2-(acetylamino)-2-deoxyhexose
7512-17-6
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
873185-52-5

(9) Novoseek inferred chemical compound relationships for GNE Gene

Compound -log(P) Hits PubMed IDs
udp-n-acetylglucosamine 97.4 66
sialic acid 88.9 59
cmp-n-acetylneuraminate 83.6 1
n-acetylglucosamine 51 6
glucosamine 38.1 1
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:

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 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 (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNE Gene

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 expressions 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 36
  • 99.78 (n)
  • 99.87 (a)
GNE 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNE 36
  • 93.77 (n)
  • 98.34 (a)
GNE 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNE 36
  • 92.59 (n)
  • 97.2 (a)
GNE 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gne 36
  • 87.16 (n)
  • 97.08 (a)
Gne 16
Gne 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNE 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNE 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gne 36
  • 88.04 (n)
  • 98.61 (a)
chicken
(Gallus gallus)
Aves GNE 36
  • 80.56 (n)
  • 92.09 (a)
GNE 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNE 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gne 36
  • 76.5 (n)
  • 86.98 (a)
Str.9677 36
zebrafish
(Danio rerio)
Actinopterygii gne 36
  • 70.68 (n)
  • 81.79 (a)
gne 37
  • 81 (a)
OneToOne
zgc77657 36
Species with no ortholog for GNE:
  • 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 MAF
rs600239 -- 36,250,297(+) AAAAC(C/T)TGACC intron-variant
rs615108 -- 36,218,021(+) TGAAT(C/G)CAATT intron-variant
rs616009 -- 36,217,801(+) AAGCC(A/G)GGTGT intron-variant
rs623166 -- 36,220,439(+) GAGCC(A/G)GCAGA intron-variant
rs626259 -- 36,221,137(+) CCAAC(A/G)TGGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893049 CNV Gain 21882294
esv34080 CNV Loss 18971310
nsv893051 CNV Gain 21882294
esv1128958 CNV Deletion 17803354

Relevant External Links for GNE Gene

HapMap Linkage Disequilibrium report
GNE
Human Gene Mutation Database (HGMD)
GNE
Locus Specific Mutation Databases (LSDB)
GNE

Disorders for GNE Gene

(3) OMIM Diseases for GNE Gene (603824)

UniProtKB/Swiss-Prot

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

(3) University of Copenhagen DISEASES for GNE Gene

(9) Novoseek inferred disease relationships for GNE Gene

Disease -log(P) Hits PubMed IDs
inclusion body myopathy 98.4 43
distal myopathies 96.4 31
nonaka myopathy 95 8
myopathy 78.7 18
sialic acid storage disease 74.7 1

Relevant External Links for GNE

GeneTests
GNE
GeneReviews
GNE
Genetic Association Database (GAD)
GNE
Human Genome Epidemiology (HuGE) Navigator
GNE
genes like me logo Genes that share disorders with GNE: view

Publications for GNE Gene

  1. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. (PMID: 10330343) Seppala R. … Gahl W.A. (Am. J. Hum. Genet. 1999) 3 4 23
  2. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. (PMID: 10334995) Keppler O.T. … Pawlita M. (Science 1999) 3 4 23
  3. Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. (PMID: 10356312) Ferreira H. … Gahl W.A. (Mol. Genet. Metab. 1999) 3 4 23
  4. Dominant inheritance of sialuria, an inborn error of feedback inhibition. (PMID: 11326336) Leroy J.G. … Gahl W.A. (Am. J. Hum. Genet. 2001) 3 4 23
  5. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. (PMID: 11528398) Eisenberg I. … Mitrani-Rosenbaum S. (Nat. Genet. 2001) 3 4 23

Products for GNE Gene

  • Addgene plasmids for GNE

Sources for GNE Gene

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