Gene table of GNE : glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GNE	OMIM link	Number of associated genes	genes
269921	SIALURIA	OMIM, HUMSAVAR	link to OMIM	1	GNE
605820	NONAKA MYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GNE

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Annotation of the gene GNE

Associated genes in ENSEMBL

ENSG00000159921

Associated proteins - SwissProt Accession ID

Q9Y223

Associated PDB IDs

Cytogenetic Band

9p13.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
Amino sugar and nucleotide sugar metabolism	hsa00520	7.15

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis of substrates in N-glycan biosythesis	R-HSA-446219	7.28
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	R-HSA-446193	6.92
Diseases associated with glycosylation precursor biosynthesis	R-HSA-5609975	9.08
Metabolism of proteins	R-HSA-392499	3.41
Sialic acid metabolism	R-HSA-4085001	7.94
Asparagine N-linked glycosylation	R-HSA-446203	6.1
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2	R-HSA-4085011	12.98
Diseases of glycosylation	R-HSA-3781865	6.89
Post-translational protein modification	R-HSA-597592	4.54
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
carbohydrate kinase activity	GO:0019200	6.74
UDP-N-acetylglucosamine 2-epimerase activity	GO:0008761	9.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
hydrolase activity, acting on glycosyl bonds	GO:0016798	4.91
binding	GO:0005488	0.18
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
nucleotide binding	GO:0000166	1.96
kinase activity	GO:0016301	2.93
N-acylmannosamine kinase activity	GO:0009384	9.05
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
racemase and epimerase activity, acting on carbohydrates and derivatives	GO:0016857	7.44
racemase and epimerase activity	GO:0016854	6.97
isomerase activity	GO:0016853	4.62
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	5.14
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19