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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:44034075-44084177 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 23.10 cM, cytoband B1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    356 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354951
 protein coding gene Chr4:44034075-44084177 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028232
 protein coding gene Chr4:42174861-42231070 (-)
A/J MGP_AJ_G0028189
 protein coding gene Chr4:40680101-40731459 (-)
AKR/J MGP_AKRJ_G0028141
 protein coding gene Chr4:41631917-41687384 (-)
BALB/cJ MGP_BALBcJ_G0028209
 protein coding gene Chr4:40775992-40827056 (-)
C3H/HeJ MGP_C3HHeJ_G0027931
 protein coding gene Chr4:42245071-42297853 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028650
 protein coding gene Chr4:43781163-43832242 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025960
 protein coding gene Chr4:38107404-38155670 (-)
CAST/EiJ MGP_CASTEiJ_G0027370
 protein coding gene Chr4:41764595-41820648 (-)
CBA/J MGP_CBAJ_G0027897
 protein coding gene Chr4:45131035-45189182 (-)
DBA/2J MGP_DBA2J_G0028046
 protein coding gene Chr4:40587728-40638349 (-)
FVB/NJ MGP_FVBNJ_G0028013
 protein coding gene Chr4:39819443-39867419 (-)
LP/J MGP_LPJ_G0028145
 protein coding gene Chr4:42251303-42305017 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028037
 protein coding gene Chr4:48331295-48394214 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028686
 protein coding gene Chr4:41845312-41900710 (-)
PWK/PhJ MGP_PWKPhJ_G0027094
 protein coding gene Chr4:40636913-40686980 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026923
 protein coding gene Chr4:41374444-41427835 (-)
WSB/EiJ MGP_WSBEiJ_G0027448
 protein coding gene Chr4:41719888-41774631 (-)



Homology
more
  • Human Ortholog
    GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Synonyms
    DMRV, GLCNE, IBM2, NM, THC12, Uae1
  • Links
    NCBI Gene ID: 10020
    neXtProt AC: NX_Q9Y223
    UniProt: Q9Y223

  • Chr Location
    9p13.3; chr9:36214441-36277042 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human GNE associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 5 alleles in 5 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    33 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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    892
  • Tissues
    122
  • cDNA Data
    115
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 50798 NCBI Gene Model | MGI Sequence Detail 50103 C57BL/6J ±  kb
    transcript NM_001190414 RefSeq | MGI Sequence Detail 5610 C57BL/6  
    polypeptide Q91WG8 UniProt | EBI | MGI Sequence Detail 722 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 121
      cDNA 115
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1916938
    References
    more
    • Summaries
      All 70
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 12
      Phenotypes 33
    • 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:345585 Huang L, et al., Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice. Blood Adv. 2024 Feb 27;8(4):991-1001
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory