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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 Amino sugar and nucleotide sugar metabolism and Transport to the Golgi and subsequent modification. 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

Additional gene information for GNE Gene

No data available for CIViC summary , 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
GH09H036206 1.1 ENCODE dbSUPER 16 +69.3 69340 3 SOX13 FOXA2 SAP130 BACH1 ARID4B TEAD3 ZFHX2 ZNF316 GATAD1 EGR1 GNE RNU4-53P GLIPR2 CLTA PIR52930
GH09H036256 1.1 ENCODE 15.9 +18.9 18917 2 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 TPM2 GNE CCDC107 TLN1 ZCCHC7 RGP1 CLTA ARHGEF39 LOC102724322 RNU4-53P
GH09H036276 0.8 Ensembl ENCODE 17 +0.1 65 1 TBP TAF1 BCL6B RAD21 PRDM1 GNE RNU4-53P
GH09H036216 0.5 dbSUPER 26.3 +58.3 58322 4 POLR2A SOX6 USF2 ZNF600 ATF7 GNE CLTA RNU4-53P HMGB3P24 GLIPR2 PIR52930
GH09H036150 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.7 +124.1 124073 5 ELF3 BATF RARA ATF7 ETV6 RUNX3 CREM IKZF2 MIXL1 CBFB GLIPR2 GNE HMGB3P24 OR2S2 TLN1 OR13J1 CCIN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNE on UCSC Golden Path with GeneCards custom track

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

  • Phosphorylated by PKC.
  • Ubiquitination at isoforms=2, 3, 4, 5152, isoforms=2, 3, 4, 5195, and posLast=359359
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GNE

No data available for DME Specific Peptides for GNE Gene

Domains & Families for GNE Gene

Gene Families for GNE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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.

Phenotypes From GWAS Catalog for GNE Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for GNE
  • Applied Biological Materials Clones for GNE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

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

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

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
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
Uridine diphosphate-N-acetylglucosamine
  • N-[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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
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:

CRISPR Products

Clone Products

  • Addgene plasmids for GNE
  • Applied Biological Materials Clones for GNE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for GNE Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Intestine(4.2)
  • Muscle(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
Thorax:
  • breast
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GNE: view

Primer Products

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 33
  • 99.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNE 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNE 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNE 33 34
  • 93.77 (n)
dog
(Canis familiaris)
Mammalia GNE 33 34
  • 92.59 (n)
rat
(Rattus norvegicus)
Mammalia Gne 33
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Gne 16 34 33
  • 87.16 (n)
chicken
(Gallus gallus)
Aves GNE 33 34
  • 80.56 (n)
lizard
(Anolis carolinensis)
Reptilia GNE 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gne 33
  • 76.5 (n)
Str.9677 33
zebrafish
(Danio rerio)
Actinopterygii gne 34 33
  • 70.68 (n)
OneToOne
zgc77657 33
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 Pathogenic, Sialuria (SIALURIA) [MIM:269921] 36,234,106(-) TGATG(C/T)GGAAG reference, missense
rs121908622 Pathogenic, Sialuria (SIALURIA) [MIM:269921] 36,234,105(-) GATGC(A/G)GAAGA reference, missense
rs121908623 Pathogenic, Sialuria (SIALURIA) [MIM:269921] 36,234,114(-) GGTTC(G/T)AGTGA reference, missense
rs121908625 Pathogenic, Nonaka myopathy (NM) [MIM:605820] 36,219,927(-) GGATG(A/G)GCCTG reference, missense
rs121908626 Pathogenic, Nonaka myopathy (NM) [MIM:605820] 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
esv1128958 CNV deletion 17803354
esv34080 CNV loss 18971310
esv3620390 CNV loss 21293372
esv3620391 CNV gain 21293372
nsv1017711 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv473387 CNV novel sequence insertion 20440878

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

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

Disorder Aliases PubMed IDs
sialuria
  • sialic acid storage disease
nonaka myopathy
  • myopathy, distal, with rimmed vacuoles
inclusion body myositis
  • distal myopathy with rimmed vacuoles
gne-related myopathy
  • distal myopathy with rimmed vacuoles
oculopharyngodistal myopathy
  • oculopharyngeal distal myopathy
- 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:11326336, 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 HW (PloS one 2009) 3 4 22 60
  2. Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. (PMID: 17597614) Reinke SO … Hinderlich S (FEBS letters 2007) 3 4 22 60
  3. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. (PMID: 15146476) Broccolini A … Mirabella M (Human mutation 2004) 3 4 22 60
  4. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. (PMID: 12913203) Yabe I … Tashiro K (Neurology 2003) 3 4 22 60
  5. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. (PMID: 12811782) Del Bo R … Comi GP (Muscle & nerve 2003) 3 4 22 60

Products for GNE Gene

  • Addgene plasmids for GNE

Sources for GNE Gene

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