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
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
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
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
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1973
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV002034565
RCV001885162
RCV004699471
RCV001910239
RCV001925681
RCV001999788
RCV001872657
RCV001960552
RCV001936231
RCV001878074
RCV001889822
RCV001997147
RCV002007432
RCV002043361
RCV002251107
RCV000149557
RCV002309685
RCV002308151
RCV002309415
RCV002307126
RCV002310283
RCV002310387
RCV002310492
RCV000366480
RCV000169277
RCV000169197
RCV000778885
RCV000169582
RCV003062212
RCV003062213
RCV002637481
RCV000700059
RCV002870860
RCV002839199
RCV002847228
RCV001241785
RCV000006396
RCV000006398
RCV000006400
RCV000202425
RCV000006404
RCV000006405
RCV000006406
RCV000006407
RCV000202427
RCV003029384
RCV003043319
RCV003040192
RCV005047436
RCV003226704
RCV002518824
RCV000596066
RCV000593290
RCV000984180
RCV000597478
RCV000535604
RCV005044552
RCV000596007
RCV003337935
RCV003468281
RCV003468282
RCV003461708
RCV003468283
RCV003468284
RCV003485012
RCV003781104
RCV003781312
RCV003796149
RCV003798307
RCV003792517
RCV003803776
RCV003797467
RCV003809157
RCV003800524
RCV003800763
RCV003812375
RCV003805038
RCV003805086
RCV003989380
RCV004576687
RCV004576689
RCV004576690
RCV004576692
RCV004576693
RCV004576694
RCV000411425
RCV000409537
RCV000411921
RCV000411466
RCV000411761
RCV000411440
RCV000411568
RCV000410389
RCV000409869
RCV000409849
RCV000409391
RCV000412423
RCV000410658
RCV000411234
RCV001388253
RCV000487445
RCV000532348
RCV002526936
RCV000755013
RCV001383849
RCV000597462
RCV004586813
RCV001204406
RCV003465342
RCV001829691
RCV000343796
RCV001274365
RCV000672708
RCV000669224
RCV000668924
RCV000666404
RCV000667738
RCV001868246
RCV000665671
RCV000671048
RCV000668880
RCV000666034
RCV000669521
RCV000667517
RCV000668742
RCV000666017
RCV000673603
RCV000669341
RCV000670521
RCV000670370
RCV000668839
RCV000666276
RCV000668355
RCV000671495
RCV003461010
RCV000786067
RCV001231445
RCV001378205
RCV001067578
RCV001050751
RCV001390115
RCV001227701
RCV001229444
RCV001243360
RCV001241482
RCV001225305
RCV001264347
RCV001264348
RCV001264349
RCV001263568
RCV001263569
RCV001263570
RCV001263571
GNE-related disorder Pathogenic; Likely pathogenic rs28937594, rs139425890 RCV004748503
RCV004748543
Hereditary nonpolyposis colon cancer Pathogenic rs62541771 RCV004525844
Lung cancer Pathogenic rs199877522 RCV005895593
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs7861442 RCV005905726
Clear cell carcinoma of kidney Benign; Likely benign rs35224402 RCV005895789
Inclusion Body Myopathy, Recessive Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs111302956, rs121908627, rs7047950, rs201025841, rs35638832, rs145361930, rs886063913, rs886063914, rs140396892, rs566044462, rs531142218, rs41277097, rs886063921, rs182741472, rs886063924
View all (39 more)
RCV000305741
RCV000372863
RCV000383169
RCV000302070
RCV000298514
RCV000384850
RCV000353903
RCV000324010
RCV000384328
RCV000297341
RCV000361441
RCV000290069
RCV000319759
RCV000325788
RCV000336485
RCV000266733
RCV000315865
RCV000342248
RCV000332952
RCV000319961
RCV000295744
RCV000338044
RCV000276304
RCV000280341
RCV000354440
RCV000292441
RCV000294010
RCV000330961
RCV000345468
RCV000288779
RCV000281159
RCV000315147
RCV000394484
RCV000325124
RCV000396500
RCV000399312
RCV000349575
RCV000297245
RCV000356834
RCV000266809
RCV000384461
RCV000365380
RCV000361861
RCV000343668
RCV000349760
RCV000356390
RCV000395694
RCV000304960
RCV000269908
RCV000296070
RCV000327686
RCV000273502
RCV000277992
RCV000323917
RCV000381120
RCV000387067
RCV000365821
RCV000283637
RCV000353032
RCV000290557
RCV000366710
Isolated hereditary giant platelet disorder Uncertain significance rs1306768272 RCV004686605
Associations from Text MiningDisease 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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