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Gne Gene Detail
Summary
  • Symbol
    Gne
  • Name
    glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Synonyms
    2310066H07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354951
    NCBI Gene: 50798
  • Gene Overview
    MyGene.info: GNE
Location & Maps
more
  • Sequence Map
    Chr4:44034075-44084177 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50103 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 23.10 cM, cytoband B1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DMRV, GLCNE, IBM2, NM, Uae1
  • Links
    NCBI Gene ID: 10020
    neXtProt AC: NX_Q9Y223

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

  • HomoloGene
    Vertebrate Homology Class 3996
    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 Diseases
more
  • Diseases
    2 with human GNE associations

Human Disease Mouse Models
       Nonaka Myopathy; NM   OMIM: 605820 View 1 model
Sialuria   OMIM: 269921
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 3 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    28
  • Chemically and radiation induced
    1
  • Gene trapped
    20
  • Targeted
    6
  • Transgenic
    1
  • Genomic Mutations
    1 involving Gne
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    356 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 115
    cDNA 114
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1916938
References
more
  • Summaries
    All 44
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 4
    Phenotypes 18
  • 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

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
07/12/2016
MGI 6.04
The Jackson Laboratory