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Gene Gene information from NCBI Gene database.
Entrez ID 10020
Gene name Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Gene symbol GNE
Synonyms (NCBI Gene)
DMRVGLCNEIBM2NMTHC12Uae1
Chromosome 9
Chromosome location 9p13.3
Summary 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.
95 Show/Hide all (95)
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.
615 Show/Hide all (615)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32 Show/Hide all (32)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603824 23657 ENSG00000159921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF00480 ROK 409 → 716 ROK family Family
PF02350 Epimerase_2 32 → 375 UDP-N-acetylglucosamine 2-epimerase 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 Pathway Reactome Pathway
Amino sugar and nucleotide sugar metabolism Sialic acid metabolism
Biosynthesis of various nucleotide sugars Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2
Metabolic pathways  
Biosynthesis of nucleotide sugars  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (8)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GNE myopathy Pathogenic; Likely pathogenic rs2132993345, rs2133005844, rs2133007032, rs2133113896, rs2133126724, rs2133041569, rs2133078032, rs199877522, rs2133042191, rs2133049724, rs1554658924, rs2133111012, rs1276168825, rs2133068002, rs983424324
View all (142 more)
RCV001379455
RCV001385136
RCV001382752
RCV001388529
RCV001381320
View all (153 more)
★★★★★
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ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GNE-related disorder Pathogenic; Likely pathogenic rs28937594, rs139425890 RCV004748503
RCV004748543
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colon cancer Pathogenic rs62541771 RCV004525844
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Pathogenic rs199877522 RCV005895593
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, autophagic vacuolar, infantile-onset Likely pathogenic; Pathogenic rs121908629, rs1191857860 RCV004585989
RCV004587035
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (20)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATYPICAL FEMORAL FRACTURE — GWAS catalog 31006051
★★★★★
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Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19 — Disgenet —
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Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar —
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Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar —
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Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (249)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
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Found in Text Mining only
Acute leukemia Leukemia BEFREE 7919380
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Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7919380, 8907269
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Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 8641372
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Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20008143, 31782601
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Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 28130546
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Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 7919380
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Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 10480339, 29207075
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Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28726777
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Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29453415 Associate
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Found in Text Mining only