Identity
HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
DMRV,GLCNE,IBM2,NM,Uae1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10020
MIM: 603824
HGNC: 23657
Ensembl: ENSG00000159921
Variants:
dbSNP: 10020
ClinVar: 10020
TCGA: ENSG00000159921
COSMIC: GNE
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38852763 | 2024 | Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy. | 0 |
| 38852763 | 2024 | Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy. | 0 |
| 36979358 | 2023 | Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE). | 0 |
| 36980840 | 2023 | Genetic 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 |
| 37666692 | 2023 | GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? | 0 |
| 36979358 | 2023 | Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE). | 0 |
| 36980840 | 2023 | Genetic 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 |
| 37666692 | 2023 | GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? | 0 |
| 35398442 | 2022 | Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. | 1 |
| 35398442 | 2022 | Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. | 1 |
| 33094863 | 2021 | Motor axonal neuropathy associated with GNE mutations. | 9 |
| 33094863 | 2021 | Motor axonal neuropathy associated with GNE mutations. | 9 |
| 31985472 | 2020 | Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype. | 4 |
| 32053088 | 2020 | Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene. | 1 |
| 32664106 | 2020 | The 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/gne
