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mutLBSgeneDB |
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| Gene summary for UPP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | UPP2 |
| Gene name | uridine phosphorylase 2 | |
| Synonyms | UDRPASE2|UP2|UPASE2 | |
| Cytomap | UCSC genome browser: 2q24.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001135098.1, NM_173355.3, | |
| Description | UPase 2liver-specific uridine phosphorylaseurdPase 2uridine phosphorylase-2 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000007001 | ||
| HPRD : 15627 | ||
| Vega : OTTHUMG00000131969 | ||
| Protein | UniProt: O95045 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UPP2 | |
| BioGPS: 151531 | ||
| Pathway | NCI Pathway Interaction Database: UPP2 | |
| KEGG: UPP2 | ||
| REACTOME: UPP2 | ||
| Pathway Commons: UPP2 | ||
| Context | iHOP: UPP2 | |
| ligand binding site mutation search in PubMed: UPP2 | ||
| UCL Cancer Institute: UPP2 | ||
| 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 UPP2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C95,D93 | I94T | KIRC | 1 | I287 | N288K | LUAD | 1 | C102 | M103I | LUAD | 1 | F219 | Y220F | STAD | 1 | G66 | G65S | STAD | 1 | C95 | C95R | 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 UPP2 |
| 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 | D93 | I94T | -1.3096757 | C95 | I94T | -1.3096757 | C95 | C95R | -1.2973395 | C102 | M103I | -1.1916173 | F219 | Y220F | -0.84576983 | I287 | N288K | -0.4347696 | G66 | G65S | -0.1102745 |
| (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 UPP2 from PDB |
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| Differential gene expression and gene-gene network for UPP2 |
| 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 UPP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0008074 | Child Development Disorders, Pervasive | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UPP2 |
| 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 |
| Investigational | DB05041 | RP101 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of UPP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 2xrf | A | D93 C95 C102 | MG | MAGNESIUM(2+) | 2xrf | B | D93 C95 C102 | MG | MAGNESIUM(2+) | 2xrf | C | D93 C95 C102 | URA | URACIL | 2xrf | A | F219 | URA | URACIL | 2xrf | B | F219 | URA | URACIL | 2xrf | C | F219 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | A | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | B | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | C | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | D | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | E | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0e | F | F219 I287 | BAU | 1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE | 3p0f | A | F219 I287 | PO4 | PHOSPHATE ION | 3p0e | A | G66 | PO4 | PHOSPHATE ION | 3p0e | B | G66 | PO4 | PHOSPHATE ION | 3p0e | C | G66 | PO4 | PHOSPHATE ION | 3p0e | D | G66 | PO4 | PHOSPHATE ION | 3p0e | E | G66 | PO4 | PHOSPHATE ION | 3p0e | F | G66 |
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| Conservation information for LBS of UPP2 |
| Multiple alignments for O95045 in multiple species |
| LBS | AA sequence | # species | Species |
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