Version: 8.0.0
Date: Tue Jan 28 2025
Gne
Mus musculusMGI:1354951
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Gne

Species
Mus musculus
Symbol
Gne
Name
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Synonyms
  • 2310066H07Rik
  • RIKEN cDNA 2310066H07 gene
Biotype
protein coding gene
Automated Description
Enables N-acylmannosamine kinase activity and UDP-N-acetylglucosamine 2-epimerase activity. Involved in CMP-N-acetylneuraminate biosynthetic process and N-acetylneuraminate biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Human ortholog(s) of this gene implicated in GNE myopathy; sialuria; and thrombocytopenia. Orthologous to human GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase).
MGI Description
PHENOTYPE: Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. Mice expressing the p.V572L mutation show features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Homozygosity for the p.P735R mutation affects angiogenesis, causing embryonic brain hemorrhages, and is embryonic lethal. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18964
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Gne molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            Gne role
            Gne genetic perturbation
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            Interactor role
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