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Gne
Gene Detail
Symbol

Name
ID
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MGI:1354951
Synonyms
2310066H07Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
23.10 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:44034075-44084177 bp, - strand
From VEGA annotation of GRCm38

  50103 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3996  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GNE
Gene Tree: Gne

Human
homologs
GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 10020
neXtProt AC: NX_Q9Y223

Human Synonyms: DMRV, GLCNE, IBM2, NM, Uae1

Human Chr (Location): 9p13.3; chr9:36214441-36277056 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human GNE

Mutations,
alleles, and
phenotypes
All mutations/alleles(27) : Gene trapped(20) Targeted(6) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
 
Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Gne interacts with 304 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process carbohydrate phosphorylation, metabolic process, ...
Component cytoplasm, cytosol
Function ATP binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (125)    Tissues (116)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
RNA in situ 108
Northern blot 13
Western blot 1
cDNA source data(114)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gne ; ZFIN gne    NEW 
Molecular
reagents
All nucleic(115) cDNA(114) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000007208 (Evidence)
Ensembl Gene Model ENSMUSG00000028479 (Evidence)
Entrez Gene 50798 (Evidence)
UniGene 256718
DFCI TC1577505, TC1666558, TC1677852, TC1727255
DoTS DT.101210227, DT.101738926, DT.110815451, DT.489383
NIA Mouse Gene Index U025005
EC 2.7.1.60, 3.2.1.183, 5.1.3.14
Consensus CDS Project CCDS18120.2, CCDS51170.1
International Mouse Phenotyping Consortium Status Gne
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007208 VEGA Gene Model | MGI Sequence Detail 50103 C57BL/6J ±  kb
transcript OTTMUST00000016636 VEGA | MGI Sequence Detail 5384 Not Applicable 
polypeptide OTTMUSP00000007660 VEGA | MGI Sequence Detail 753 Not Applicable 

For the selected sequences
All sequences(112) RefSeq(10) UniProt(12)
Polymorphisms
SNPs within 2kb(359 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000600 ROK family
InterPro IPR003331 UDP-N-acetylglucosamine 2-epimerase
InterPro IPR020004 UDP-N-acetylglucosamine 2-epimerase,UDP-hydrolysing
Protein Ontology PR:000008102 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
References
(Earliest) J:53895 Horstkorte R, et al., Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. Eur J Biochem. 1999 Mar;260(3):923-7
(Latest) J:209733 Hanisch F, et al., Sialylation and muscle performance: sialic acid is a marker of muscle ageing. PLoS One. 2013;8(12):e80520
All references(47)
Other
accession IDs
MGI:1916938

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory