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 sign... See more...

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 4
  • UDP-GlcNAc-2-Epimerase/ManAc Kinase 3 4
  • GLCNE 3 4
  • UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase 3
  • UDP-N-Acetylglucosamine-2-Epimerase/N-Acetylmannosamine Kinase 2
  • 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 Metabolism of proteins and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and UDP-N-acetylglucosamine 2-epimerase activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GNE Gene

Genomics for GNE Gene

GeneHancer (GH) Regulatory Elements for GNE Gene

Promoters and enhancers for GNE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J036256 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 516.7 +18.9 18934 2.6 RXRA EP300 TCF12 POLR2G SP1 PHF8 ZFX ZNF639 ZNF10 ZIC2 GNE LOC102724322 TMEM8B NPR2 CLTA piR-38537-061
GH09J036276 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 517 +0.1 100 1.5 ZBTB17 ZNF335 TBP ZNF384 RAD21 TAF1 YY1 BCL6B FOXA1 SP1 GNE RNU4-53P RF00015-074 LOC102724322 CLTA
GH09J036275 Enhancer 0.2 ENCODE 500.7 +1.8 1767 0.3 GNE RNU4-53P RF00015-074 LOC102724322 CLTA
GH09J036189 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.2 +85.0 84996 4.7 FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 USF1 POLR2G CLTA lnc-GNE-3 GNE GLIPR2 piR-43105-660
GH09J036217 Enhancer 1.2 Ensembl ENCODE dbSUPER 26 +60.1 60095 2.5 ZBTB5 AFF1 HES1 CTBP1 HDAC3 NR2F2 NCOR1 TRIM25 ZNF282 NFIC GNE CLTA HMGB3P24 piR-58931 piR-43105-660
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNE on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNE

Top Transcription factor binding sites by QIAGEN in the GNE gene promoter:
  • CREB
  • deltaCREB
  • Sp1

Genomic Locations for GNE Gene

Genomic Locations for GNE Gene
chr9:36,214,441-36,277,056
(GRCh38/hg38)
Size:
62,616 bases
Orientation:
Minus strand
chr9:36,214,438-36,277,053
(GRCh37/hg19)
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=Truncated N-terminus.; 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

Gene Families for GNE Gene

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

Protein Domains for GNE Gene

Blocks:
  • ROK family
  • UDP-N-acetylglucosamine 2-epimerase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNE Gene

GenScript: Design optimal peptide antigens:
  • UDP-GlcNAc-2-epimerase/ManAc kinase (GLCNE_HUMAN)
  • UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase (Q6QNY5_HUMAN)
  • UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase (Q6QNY6_HUMAN)
  • UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase (Q6QNY7_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N-acetyl-D-mannosamine + UDP; Xref=Rhea:RHEA:30683, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17122, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223; EC=3.2.1.183;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-D-mannosamine + ATP = ADP + an N-acyl-D-mannosamine 6-phosphate + H(+); Xref=Rhea:RHEA:23832, ChEBI:CHEBI:15378, ChEBI:CHEBI:16062, ChEBI:CHEBI:30616, ChEBI:CHEBI:57666, ChEBI:CHEBI:456216; EC=2.7.1.60;.
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.

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 18560563
GO:0005524 ATP binding IEA --
GO:0008761 UDP-N-acetylglucosamine 2-epimerase activity IBA 21873635
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:
  • Gne Gne<tm1Sngi>
  • Gne Gne<tm1Rhk>

Animal Model Products

CRISPR Products

miRNA for GNE Gene

miRTarBase miRNAs that target GNE

Clone Products

  • Addgene plasmids for GNE

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
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
lysosome 2
golgi apparatus 2
endoplasmic reticulum 1
endosome 1
peroxisome 0

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
Cytarabine Approved, Experimental, Investigational Pharma 1324
N-Acetyl-D-glucosamine Approved, Investigational Nutra 0
Water Approved Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
Aceneuramic acid Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
N-Acetyl-D-mannosamine 6-phosphate
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-acetamido-2-Deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-acetamido-2-Deoxy-6-O-phosphono-alpha-D-mannose
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-a-D-mannopyranose
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-α-D-mannopyranose
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
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GNE: view

Transcripts for GNE Gene

mRNA/cDNA for GNE Gene

7 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GNE

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

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, MaxQB, and MOPED for GNE Gene



Protein tissue co-expression partners for GNE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNE 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNE 31
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNE 31 30
  • 93.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNE 31 30
  • 92.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gne 30
  • 88.04 (n)
mouse
(Mus musculus)
Mammalia Gne 17 31 30
  • 87.16 (n)
chicken
(Gallus gallus)
Aves GNE 31 30
  • 80.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNE 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gne 30
  • 76.5 (n)
Str.9677 30
zebrafish
(Danio rerio)
Actinopterygii gne 31 30
  • 70.68 (n)
OneToOne
zgc77657 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for GNE: view image

Paralogs for GNE Gene

No data available for Paralogs for GNE Gene

Variants for GNE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNE Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
566086 Uncertain Significance: Sialuria; GNE myopathy 36,217,490(-) C/T MISSENSE_VARIANT
569623 Uncertain Significance: Sialuria; GNE myopathy 36,249,400(-) G/A INTRON_VARIANT
571466 Uncertain Significance: Sialuria; GNE myopathy 36,218,180(-) C/T INTRON_VARIANT
578096 Uncertain Significance: Sialuria; GNE myopathy 36,217,526(-) C/A MISSENSE_VARIANT
581426 Uncertain Significance: Sialuria; GNE myopathy; not provided 36,249,371(-) T/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GNE Gene

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)

Additional Variant Information for GNE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GNE Gene

MalaCards: The human disease database

(23) MalaCards diseases for GNE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sialuria
  • infantile sialic acid storage disease
nonaka myopathy
  • nm
inclusion body myositis
  • ibm
myopathy
  • muscular diseases
miyoshi muscular dystrophy
  • miyoshi 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
  • 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.
  • 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.

Additional Disease Information for GNE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  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 23 54
  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 23 54
  4. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (PMID: 12497639) Eisenberg I … Mitrani-Rosenbaum S (Human mutation 2003) 3 4 23 54
  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 23 54

Products for GNE Gene

Sources for GNE Gene