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mutLBSgeneDB |
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| Gene summary for GNE |
 Gene summary |
| Basic gene Info. | Gene symbol | GNE |
| Gene name | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| Synonyms | DMRV|GLCNE|IBM2|NM|Uae1 | |
| Cytomap | UCSC genome browser: 9p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001128227.2, NM_001190383.1,NM_001190384.1,NM_001190388.1,NM_005476.5, | |
| Description | N-acylmannosamine kinaseUDP-GlcNAc-2-epimerase/ManAc kinaseUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinaseUDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinasebifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603824 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000159921 | ||
| HPRD : 04825 | ||
| Vega : OTTHUMG00000019899 | ||
| Protein | UniProt: Q9Y223 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GNE | |
| BioGPS: 10020 | ||
| Pathway | NCI Pathway Interaction Database: GNE | |
| KEGG: GNE | ||
| REACTOME: GNE | ||
| Pathway Commons: GNE | ||
| Context | iHOP: GNE | |
| ligand binding site mutation search in PubMed: GNE | ||
| UCL Cancer Institute: GNE | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for GNE |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A589 | Y590C | COAD | 1 | I492 | Q493K | SKCM | 1 | R477 | R477C | STAD | 1 | R420 | R420Q | UCEC | 1 | A589 | Y590D | UCEC | 1 | N519 | C520G | UCEC | 1 | N519 | N519D | UCEC | 1 | A589,G593 | A591T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for GNE |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R420 | R420Q | -1.6420844 | N519 | N519D | -1.0649067 | R477 | R477C | -0.92492649 | I492 | Q493K | -0.89547964 | A589 | Y590D | -0.84937921 | G593 | A591T | -0.81381469 | A589 | A591T | -0.81381469 | A589 | Y590C | -0.46784932 | N519 | C520G | -0.40353402 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for GNE from PDB |
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| Differential gene expression and gene-gene network for GNE |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GNE |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1853926 | Distal myopathy, Nonaka type | 57 | Biomarker, GeneticVariation |
| umls:C0238190 | Myositis, Inclusion Body | 6 | Biomarker, GeneticVariation |
| umls:C0342853 | Sialic Acid Storage Disease | 5 | Biomarker, GeneticVariation |
| umls:C1833373 | Inclusion body myopathy autosomal recessive | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GNE |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GNE go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2yhw | A | N519 | CA | CALCIUM(2+) | 2yhy | A | N519 | CA | CALCIUM(2+) | 2yi1 | A | N519 | UNX | UNKNOWN ATOM OR LIGAND | 3eo3 | A | R420 | ADP | ADP | 2yhy | A | R420 G593 | ADP | ADP | 2yi1 | A | R420 G593 | BM3 | N-ACETYL-ALPHA-D-MANNOSAMINE | 2yhw | A | R477 I492 | BM3 | N-ACETYL-ALPHA-D-MANNOSAMINE | 2yhy | A | R477 I492 | BMX | N-ACETYL-ALPHA-D-MANNOSAMINE 6-PHOSPHATE | 2yi1 | A | R477 I492 | BM3 | N-ACETYL-ALPHA-D-MANNOSAMINE | 2yi1 | A | R477 I492 |
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| Conservation information for LBS of GNE |
| Multiple alignments for Q9Y223 in multiple species |
| LBS | AA sequence | # species | Species | A564 | GSSFCAAELGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A565 | SSFCAAELGHL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A589 | HGCIEAYASGM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A705 | DLVDPALLGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C579 | LDGPDCSCGSH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C581 | GPDCSCGSHGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C586 | CGSHGCIEAYA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D413 | SALAVDLGGTN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D517 | VWVDNDGNCAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D700 | DVVVSDLVDPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D703 | VSDLVDPALLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E525 | CAAMAERKFGQ | 2 | Mus musculus, Rattus norvegicus | E525 | CAALAERKFGQ | 1 | Homo sapiens | E566 | SFCAAELGHLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E588 | SHGCIEAYASG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G415 | LAVDLGGTNLR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G416 | AVDLGGTNLRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G475 | VGISTGGRVNP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G476 | GISTGGRVNPQ | 2 | Mus musculus, Rattus norvegicus | G476 | GISTGGRVNPR | 1 | Homo sapiens | G529 | AERKFGQGKGQ | 2 | Mus musculus, Rattus norvegicus | G529 | AERKFGQGKGL | 1 | Homo sapiens | G543 | VTLITGTGIGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G545 | LITGTGIGGGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G547 | TGTGIGGGIIH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G548 | GTGIGGGIIHQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G582 | PDCSCGSHGCI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G593 | EAYASGMALQR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H569 | AAELGHLVVSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I492 | HSTKLIQEWNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I546 | ITGTGIGGGII | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I587 | GSHGCIEAYAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L491 | LHSTKLIQEWN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L625 | EAVGALHLIQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L701 | VVVSDLVDPAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N418 | DLGGTNLRVAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N516 | PVWVDNDGNCA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N519 | VDNDGNCAAMA | 2 | Mus musculus, Rattus norvegicus | N519 | VDNDGNCAALA | 1 | Homo sapiens | P704 | SDLVDPALLGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q530 | ERKFGQGKGQE | 2 | Mus musculus, Rattus norvegicus | Q530 | ERKFGQGKGLE | 1 | Homo sapiens | R420 | GGTNLRVAIVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R477 | ISTGGRVNPQE | 2 | Mus musculus, Rattus norvegicus | R477 | ISTGGRVNPRE | 1 | Homo sapiens | S488 | GVVLHSTKLIQ | 2 | Mus musculus, Rattus norvegicus | S488 | GIVLHSTKLIQ | 1 | Homo sapiens | S580 | DGPDCSCGSHG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T417 | VDLGGTNLRVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T489 | VVLHSTKLIQE | 2 | Mus musculus, Rattus norvegicus | T489 | IVLHSTKLIQE | 1 | Homo sapiens | T544 | TLITGTGIGGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V670 | VILSGVLASHY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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