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 zebrafish

Gene Tree: Gne

Human homologs

Human Homolog		GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
NCBI Gene ID		10020
neXtProt AC		NX_Q9Y223
Human Synonyms		DMRV, GLCNE, IBM2, NM, Uae1
Human Chr (Location)		9p13.3; chr9:36214438-36277053 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human GNE

Alleles and phenotypes

All alleles(26) : Targeted(6) Gene trapped(20)
 

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.

 
Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	carbohydrate metabolic process, lipopolysaccharide biosynthetic 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)
Theiler Stages: 10, 18, 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	3
RNA in situ	108
Northern blot	13
Western blot	1

cDNA source data(114)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Gne

Sequences

Length	Strain/Species
genomic	OTTMUSG00000007208	VEGA Gene Model | MGI Sequence Detail	50103	C57BL/6J
transcript	OTTMUST00000016636	VEGA | MGI Sequence Detail	5384	Not Applicable
polypeptide	OTTMUSP00000007660	VEGA | MGI Sequence Detail	753	Not Applicable

All sequences(103) RefSeq(4) UniProt(12)

Polymorphisms

SNPs(233 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001312	Hexokinase
InterPro	IPR000600	ROK
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:190982 Niethamer TK, et al., Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab. 2012 Dec;107(4):748-55
All references(48)

Other accession IDs

MGI:1916938