Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10020
Gene name Gene Name - the full gene name approved by the HGNC.
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNE
Synonyms (NCBI Gene) Gene synonyms aliases
DMRV, GLCNE, IBM2, NM, THC12, Uae1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937594 A>G Pathogenic Missense variant, coding sequence variant
rs62541771 G>A Pathogenic Missense variant, coding sequence variant
rs111302956 G>A,T Pathogenic, benign, likely-benign Coding sequence variant, synonymous variant, stop gained
rs121908621 G>A Pathogenic Coding sequence variant, missense variant
rs121908622 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030677 hsa-miR-21-5p Microarray 18591254
MIRT688043 hsa-miR-5693 HITS-CLIP 23313552
MIRT688042 hsa-miR-1915-3p HITS-CLIP 23313552
MIRT688041 hsa-miR-6764-5p HITS-CLIP 23313552
MIRT688040 hsa-miR-6812-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005515 Function Protein binding IPI 18560563, 25416956, 31515488, 32296183, 32814053
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603824 23657 ENSG00000159921
Protein
UniProt ID Q9Y223
Protein name Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc-2-epimerase/ManAc kinase) [Includes: UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC 3.2.1.183) (UDP-GlcNAc-2-epimerase) (Uridine diphosphate-N-acetylglucosamine
Protein function Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critic
PDB 2YHW , 2YHY , 2YI1 , 3EO3 , 4ZHT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02350 Epimerase_2 32 375 UDP-N-acetylglucosamine 2-epimerase Family
PF00480 ROK 409 716 ROK family Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isofo
Sequence
Sequence length 722
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars
  Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
GNE Myopathy gne myopathy rs747199032, rs1057517157, rs1057516906, rs121908629, rs1554661549, rs748704459, rs1554663295, rs1057516340, rs1057517094, rs121908632, rs1828669338, rs1554658910, rs773729410, rs1057516657, rs1357906793
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N/A
Sialuria sialuria rs121908621, rs121908622, rs121908623, rs757523840, rs28937594 N/A
thrombocytopenia Thrombocytopenia rs774867424 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Macrothrombocytopenia macrothrombocytopenia, isolated N/A N/A GenCC
Myopathy congenital myopathy N/A N/A GenCC
Platelet-type bleeding disorder platelet-type bleeding disorder 19 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albuminuria Associate 33040545
Amyotrophic Lateral Sclerosis Associate 29453415
Autism Spectrum Disorder Associate 32664106
Autistic Disorder Associate 32664106
Autoimmune enteropathy Associate 33761697
Carcinoma Renal Cell Associate 23970118
Charcot Marie Tooth disease X linked recessive 2 Associate 31167812
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 29743626
Distal Myopathies Associate 24005727, 35590323
Distal myopathy Nonaka type Associate 12921793, 15834044, 19841673, 19917666, 20175955, 21131200, 21305017, 21517694, 21708040, 21910480, 23287327, 24005727, 24695763, 25182749, 25966635
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