GNE

Description		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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GO Annotations	Cellular Component	Cytoplasm Cytosol
	Molecular Function	Hydrolase Activity, Hydrolyzing O-glycosyl Compounds Protein Binding ATP Binding UDP-N-acetylglucosamine 2-epimerase Activity N-acylmannosamine Kinase Activity Metal Ion Binding
	Biological Process	N-acetylglucosamine Biosynthetic Process UDP-N-acetylglucosamine Metabolic Process N-acetylneuraminate Metabolic Process Cell Adhesion Carbohydrate Phosphorylation
Pathways		Sialic acid metabolism Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Drugs
Diseases		Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Nonaka distal myopathy (NM); Distal myopathy with rimmed vacuoles (DMRV); Hereditary inclusion body myopathy (hIBM) Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
GWAS		Bipolar disorder (inflammation and infection response interaction) ( 25781172) Bisphosphonate-associated atypical femoral fracture ( 31006051)
Interacting Genes		18 interacting genes: ADAMTSL4 CRMP1 GTPBP3 KIAA1549 KRT31 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP4-12 KRTAP5-9 KRTAP9-2 NOTCH2NLA RIF1 SIGMAR1 SPRY2 ZBTB16
Entrez ID		10020
HPRD ID		04825
Ensembl ID		ENSG00000159921
Uniprot IDs		Q9Y223
PDB IDs		2YHW 2YHY 2YI1 3EO3 4ZHT
Enriched GO Terms of Interacting Partners?
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