GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)

2003-06-01  

Identity

HGNC
GNE
LOCATION
9p13.3
LOCUSID
10020
ALIAS
DMRV,GLCNE,IBM2,NM,Uae1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10020
MIM: 603824
HGNC: 23657
Ensembl: ENSG00000159921

Variants:

dbSNP: 10020
ClinVar: 10020
TCGA: ENSG00000159921
COSMIC: GNE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159921ENST00000396594Q9Y223
ENSG00000159921ENST00000447283Q9Y223
ENSG00000159921ENST00000539208Q9Y223
ENSG00000159921ENST00000539815Q9Y223
ENSG00000159921ENST00000543356Q9Y223
ENSG00000159921ENST00000642385Q9Y223

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388527632024Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.0
388527632024Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy.0
369793582023Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).0
369808402023Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.1
376666922023GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?0
369793582023Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).0
369808402023Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.1
376666922023GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?0
353984422022Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.1
353984422022Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.1
330948632021Motor axonal neuropathy associated with GNE mutations.9
330948632021Motor axonal neuropathy associated with GNE mutations.9
319854722020Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.4
320530882020Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene.1
326641062020The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder.2

Citation

Dessen P

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40730