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mutLBSgeneDB |
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| Gene summary for UBR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | UBR2 |
| Gene name | ubiquitin protein ligase E3 component n-recognin 2 | |
| Synonyms | C6orf133|bA49A4.1|dJ242G1.1|dJ392M17.3 | |
| Cytomap | UCSC genome browser: 6p21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001184801.1, NM_015255.2, | |
| Description | E3 ubiquitin-protein ligase UBR2ubiquitin-protein ligase E3-alpha-2ubiquitin-protein ligase E3-alpha-II | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609134 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000024048 | ||
| HPRD : 09853 | ||
| Vega : OTTHUMG00000014703 | ||
| Protein | UniProt: Q8IWV8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UBR2 | |
| BioGPS: 23304 | ||
| Pathway | NCI Pathway Interaction Database: UBR2 | |
| KEGG: UBR2 | ||
| REACTOME: UBR2 | ||
| Pathway Commons: UBR2 | ||
| Context | iHOP: UBR2 | |
| ligand binding site mutation search in PubMed: UBR2 | ||
| UCL Cancer Institute: UBR2 | ||
| 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 | GO:0071233 | cellular response to leucine | 20298436 |
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| Ligand binding site mutations for UBR2 |
| 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 | H136 | R137Q | COAD | 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 UBR2 |
| 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 | H136 | R137Q | -1.1668663 |
| (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 UBR2 from PDB |
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| Differential gene expression and gene-gene network for UBR2 |
| 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 UBR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UBR2 |
| 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 UBR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3ny2 | A | H136 | ZN | ZINC(2+) | 3ny2 | B | H136 | ZN | ZINC(2+) | 3ny2 | C | H136 | ZN | ZINC(2+) | 3ny2 | D | H136 | ZN | ZINC(2+) | 3ny2 | E | H136 | ZN | ZINC(2+) | 3ny2 | F | H136 | ZN | ZINC(2+) | 3ny2 | G | H136 | ZN | ZINC(2+) | 3ny2 | H | H136 | ZN | ZINC(2+) | 3ny3 | A | H136 |
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| Conservation information for LBS of UBR2 |
| Multiple alignments for Q8IWV8 in multiple species |
| LBS | AA sequence | # species | Species | A156 | CGDTEAWKEGP | 2 | Homo sapiens, Mus musculus | A156 | CGDADAWTEGY | 1 | Caenorhabditis elegans | A156 | CGDDEAWKKDQ | 1 | Drosophila melanogaster | C112 | EPTYSCRDCAV | 2 | Homo sapiens, Mus musculus | C112 | ELTYTCLDCAT | 1 | Caenorhabditis elegans | C112 | EPTYSCRECGV | 1 | Drosophila melanogaster | C115 | YSCRDCAVDPT | 2 | Homo sapiens, Mus musculus | C115 | YTCLDCATDGT | 1 | Caenorhabditis elegans | C115 | YSCRECGVDPT | 1 | Drosophila melanogaster | C121 | AVDPTCVLCME | 2 | Homo sapiens, Mus musculus | C121 | ATDGTCVMCLQ | 1 | Caenorhabditis elegans | C121 | GVDPTCVLCVN | 1 | Drosophila melanogaster | C124 | PTCVLCMECFL | 2 | Homo sapiens, Mus musculus | C124 | GTCVMCLQCFE | 1 | Caenorhabditis elegans | C124 | PTCVLCVNCFK | 1 | Drosophila melanogaster | C127 | VLCMECFLGSI | 2 | Homo sapiens, Mus musculus | C127 | VMCLQCFEVSI | 1 | Caenorhabditis elegans | C127 | VLCVNCFKRSA | 1 | Drosophila melanogaster | C149 | GGGGFCDCGDT | 2 | Homo sapiens, Mus musculus | C149 | SGSGYCDCGDA | 1 | Caenorhabditis elegans | C149 | GGGGCCDCGDD | 1 | Drosophila melanogaster | C151 | GGFCDCGDTEA | 2 | Homo sapiens, Mus musculus | C151 | SGYCDCGDADA | 1 | Caenorhabditis elegans | C151 | GGCCDCGDDEA | 1 | Drosophila melanogaster | C163 | KEGPYCQKHEL | 1 | Homo sapiens | C163 | TEGYACANHE- | 1 | Caenorhabditis elegans | C163 | KKDQYCELHLA | 1 | Drosophila melanogaster | C163 | KEGPYCQKHKL | 1 | Mus musculus | C99 | KPSHLCGRVFK | 2 | Homo sapiens, Mus musculus | C99 | R-GQICGHVFK | 1 | Caenorhabditis elegans | C99 | NTATVCGKVFK | 1 | Drosophila melanogaster | D150 | GGGFCDCGDTE | 2 | Homo sapiens, Mus musculus | D150 | GSGYCDCGDAD | 1 | Caenorhabditis elegans | D150 | GGGCCDCGDDE | 1 | Drosophila melanogaster | D153 | FCDCGDTEAWK | 2 | Homo sapiens, Mus musculus | D153 | YCDCGDADAWT | 1 | Caenorhabditis elegans | D153 | CCDCGDDEAWK | 1 | Drosophila melanogaster | F148 | SGGGGFCDCGD | 2 | Homo sapiens, Mus musculus | F148 | SSGSGYCDCGD | 1 | Caenorhabditis elegans | F148 | SGGGGCCDCGD | 1 | Drosophila melanogaster | G146 | TTSGGGGFCDC | 2 | Homo sapiens, Mus musculus | G146 | HSSSGSGYCDC | 1 | Caenorhabditis elegans | G146 | STSGGGGCCDC | 1 | Drosophila melanogaster | G147 | TSGGGGFCDCG | 2 | Homo sapiens, Mus musculus | G147 | SSSGSGYCDCG | 1 | Caenorhabditis elegans | G147 | TSGGGGCCDCG | 1 | Drosophila melanogaster | H133 | FLGSIHRDHRY | 2 | Homo sapiens, Mus musculus | H133 | FEVSIHKSHKY | 1 | Caenorhabditis elegans | H133 | FKRSAHRFHKY | 1 | Drosophila melanogaster | H136 | SIHRDHRYRMT | 2 | Homo sapiens, Mus musculus | H136 | SIHKSHKYKMH | 1 | Caenorhabditis elegans | H136 | SAHRFHKYKMS | 1 | Drosophila melanogaster | H166 | PYCQKHELNTS | 1 | Homo sapiens | H166 | YACANHE---- | 1 | Caenorhabditis elegans | H166 | QYCELHLANRK | 1 | Drosophila melanogaster | H166 | PYCQKHKLSSS | 1 | Mus musculus | P119 | DCAVDPTCVLC | 2 | Homo sapiens, Mus musculus | P119 | DCATDGTCVMC | 1 | Caenorhabditis elegans | P119 | ECGVDPTCVLC | 1 | Drosophila melanogaster | T120 | CAVDPTCVLCM | 2 | Homo sapiens, Mus musculus | T120 | CATDGTCVMCL | 1 | Caenorhabditis elegans | T120 | CGVDPTCVLCV | 1 | Drosophila melanogaster | V122 | VDPTCVLCMEC | 2 | Homo sapiens, Mus musculus | V122 | TDGTCVMCLQC | 1 | Caenorhabditis elegans | V122 | VDPTCVLCVNC | 1 | Drosophila melanogaster |
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