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mutLBSgeneDB |
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| Gene summary for NT5C2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NT5C2 |
| Gene name | 5'-nucleotidase, cytosolic II | |
| Synonyms | GMP|NT5B|PNT5|SPG45|SPG65|cN-II | |
| Cytomap | UCSC genome browser: 10q24.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001134373.2, NM_012229.4, | |
| Description | 5'-nucleotidase (purine), cytosolic type BIMP-specific 5'-NTcytosolic 5'-nucleotidase IIcytosolic purine 5'-nucleotidasepurine 5' nucleotidase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600417 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000076685 | ||
| HPRD : 02686 | ||
| Vega : OTTHUMG00000018981 | ||
| Protein | UniProt: P49902 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NT5C2 | |
| BioGPS: 22978 | ||
| Pathway | NCI Pathway Interaction Database: NT5C2 | |
| KEGG: NT5C2 | ||
| REACTOME: NT5C2 | ||
| Pathway Commons: NT5C2 | ||
| Context | iHOP: NT5C2 | |
| ligand binding site mutation search in PubMed: NT5C2 | ||
| UCL Cancer Institute: NT5C2 | ||
| 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 NT5C2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q453 | A451V | COAD | 1 | K362 | K361N | COAD | 1 | Q420 | R422C | COAD | 1 | S445 | S443N | LUAD | 1 | K292 | R291Q | STAD | 1 | R456 | R456C | 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 NT5C2 |
| 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 | K292 | R291Q | -1.5497304 | R456 | R456C | -1.500459 | K362 | K361N | -0.77387376 | Q453 | A451V | -0.76486668 | Q420 | R422C | -0.65027653 | S445 | S443N | -0.46366854 |
| (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 NT5C2 from PDB |
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| Differential gene expression and gene-gene network for NT5C2 |
| 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 NT5C2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 3 | Biomarker |
| umls:C2825055 | Recurrence | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NT5C2 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00171 | Adenosine triphosphate | Small molecule |  |
| Approved | DB00811 | Ribavirin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NT5C2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | IMP | IMP | 2xcv | A | K292 | IMP | IMP | 2xcw | A | K292 | DG | 2'-DEOXYGUANOSINE-5'-MONOPHOSPHATE | 2xjb | A | K292 | 5GP | GMP RESIDUE | 2xjc | A | K292 | PO4 | PHOSPHATE ION | 2xjd | A | K292 | U5P | UMP | 2xje | A | K292 | DG2 | 2,3-BISPHOSPHOGLYCERATE | 2xcv | A | K362 | DG2 | 2,3-BISPHOSPHOGLYCERATE | 2xjf | A | K362 | B4P | DIADENOSINE TETRAPHOSPHATE | 2xjc | A | K362 Q453 | 53O | 1-(BIPHENYL-3-YL)-1H-IMIDAZOLE | 5cqz | A | Q420 S445 | 53O | 1-(BIPHENYL-3-YL)-1H-IMIDAZOLE | 5cqz | B | Q420 S445 | ADN | ADENOSINE | 2jc9 | A | Q453 | 11H | 9,10-DIOXO-9,10-DIHYDROANTHRACENE-2,6-DISULFONIC ACID | 4h4b | A | Q453 | ATP | ATP | 2xcw | A | Q453 R456 | DTP | DATP(4-) | 2xjb | A | Q453 R456 | ATP | ATP | 2xjd | A | Q453 R456 | ATP | ATP | 2xje | A | Q453 R456 |
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| Conservation information for LBS of NT5C2 |
| Multiple alignments for P49902 in multiple species |
| LBS | AA sequence | # species | Species | D145 | KFIQRDDTERF | 3 | Homo sapiens, Bos taurus, Mus musculus | D145 | KFIQRDDTDRF | 2 | Xenopus tropicalis, Gallus gallus | D206 | VRDAVDWVHYK | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | D351 | ILYIGDHIFGD | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | D52 | KCFGFDMDYTL | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | D54 | FGFDMDYTLAV | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | F127 | AHGFNFIRGPE | 3 | Homo sapiens, Bos taurus, Mus musculus | F127 | AHGFNFMRGPE | 1 | Xenopus tropicalis | F127 | AHGFNFLRGPE | 1 | Gallus gallus | F157 | ILNTLFNLPET | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | F354 | IGDHIFGDILK | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | H209 | AVDWVHYKGSL | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | H428 | IKKVTHDMDMC | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | I152 | TERFYILNTLF | 3 | Homo sapiens, Bos taurus, Mus musculus | I152 | TDRFYILNTLF | 2 | Xenopus tropicalis, Gallus gallus | K215 | YKGSLKEKTVE | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | K215 | YKGSLKEKTLE | 1 | Gallus gallus | K292 | LVDARKPLFFG | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | K362 | ILKSKKRQGWR | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | L358 | IFGDILKSKKR | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | L476 | YPFSYLFRAAH | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | M432 | THDMDMCYGMM | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | M436 | DMCYGMMGSLF | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | M53 | CFGFDMDYTLA | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | N154 | RFYILNTLFNL | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | N250 | VFLATNSDYKY | 3 | Homo sapiens, Bos taurus, Mus musculus | N250 | VFLVTNSDYKY | 2 | Xenopus tropicalis, Gallus gallus | P293 | VDARKPLFFGE | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | Q420 | DISSIQRRIKK | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | Q453 | TLFASQVMRYA | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | R129 | GFNFIRGPETR | 3 | Homo sapiens, Bos taurus, Mus musculus | R129 | GFNFMRGPEIR | 1 | Xenopus tropicalis | R129 | GFNFLRGPETR | 1 | Gallus gallus | R144 | NKFIQRDDTER | 3 | Homo sapiens, Bos taurus, Mus musculus | R144 | NKFIQRDDTDR | 2 | Xenopus tropicalis, Gallus gallus | R202 | MFQDVRDAVDW | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | R39 | RVFVNRSLAME | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | R446 | FRSGSRQTLFA | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | R456 | ASQVMRYADLY | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | R478 | FSYLFRAAHVL | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | S251 | FLATNSDYKYT | 3 | Homo sapiens, Bos taurus, Mus musculus | S251 | FLVTNSDYKYT | 2 | Xenopus tropicalis, Gallus gallus | S40 | VFVNRSLAMEK | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | S445 | LFRSGSRQTLF | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | T147 | IQRDDTERFYI | 3 | Homo sapiens, Bos taurus, Mus musculus | T147 | IQRDDTDRFYI | 2 | Xenopus tropicalis, Gallus gallus | T249 | KVFLATNSDYK | 3 | Homo sapiens, Bos taurus, Mus musculus | T249 | KVFLVTNSDYK | 2 | Xenopus tropicalis, Gallus gallus | Y210 | VDWVHYKGSLK | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus | Y457 | SQVMRYADLYA | 5 | Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus |
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