|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for RRM2B |
 Gene summary |
| Basic gene Info. | Gene symbol | RRM2B |
| Gene name | ribonucleotide reductase M2 B (TP53 inducible) | |
| Synonyms | MTDPS8A|MTDPS8B|P53R2 | |
| Cytomap | UCSC genome browser: 8q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001172477.1, NM_001172478.1,NM_015713.4, | |
| Description | TP53-inducible ribonucleotide reductase M2 Bp53-inducible ribonucleotide reductase small subunit 2 homologp53-inducible ribonucleotide reductase small subunit 2 short form betap53-inducible ribonucleotide reductase small subunit 2-like proteinribonucl | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604712 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000048392 | ||
| HPRD : 05276 | ||
| Vega : OTTHUMG00000164776 | ||
| Protein | UniProt: Q7LG56 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RRM2B | |
| BioGPS: 50484 | ||
| Pathway | NCI Pathway Interaction Database: RRM2B | |
| KEGG: RRM2B | ||
| REACTOME: RRM2B | ||
| Pathway Commons: RRM2B | ||
| Context | iHOP: RRM2B | |
| ligand binding site mutation search in PubMed: RRM2B | ||
| UCL Cancer Institute: RRM2B | ||
| 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 |
| Top |
| Ligand binding site mutations for RRM2B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E194 | A192S | LUAD | 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. |
| Top |
| Protein structure related information for RRM2B |
| 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 |
 |
| 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 | E194 | A192S | -0.6389333 |
| (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 RRM2B from PDB |
| Top |
| Differential gene expression and gene-gene network for RRM2B |
| 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) |
| Top |
| Top |
| Phenotype information for RRM2B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0751651 | Mitochondrial Diseases | 4 | Biomarker, GeneticVariation |
| umls:C2749861 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for RRM2B |
| Gene-centered drug-gene interaction network |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB00242 | Cladribine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of RRM2B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE | IRON(3+) | 2vux | A | E194 | FE | IRON(3+) | 2vux | B | E194 | FE | IRON(3+) | 3hf1 | A | E194 | FE | IRON(3+) | 3hf1 | B | E194 |
| Top |
| Conservation information for LBS of RRM2B |
| Multiple alignments for Q7LG56 in multiple species |
| LBS | AA sequence | # species | Species | D100 | FFAASDGIVNE | 2 | Homo sapiens, Mus musculus | D100 | FFAASDGIVLE | 1 | Arabidopsis thaliana | E131 | FQILIENVHSE | 2 | Homo sapiens, Mus musculus | E131 | FQIAMENIHSE | 1 | Arabidopsis thaliana | E194 | AFAAVEGVFFS | 1 | Homo sapiens | E194 | AFACVEGIFFS | 1 | Arabidopsis thaliana | E194 | AFAAVEGIFFS | 1 | Mus musculus | E228 | LISRDEGLHCD | 3 | Homo sapiens, Arabidopsis thaliana, Mus musculus | H134 | LIENVHSEMYS | 2 | Homo sapiens, Mus musculus | H134 | AMENIHSEMYS | 1 | Arabidopsis thaliana | H231 | RDEGLHCDFAC | 3 | Homo sapiens, Arabidopsis thaliana, Mus musculus | Q127 | CFYGFQILIEN | 2 | Homo sapiens, Mus musculus | Q127 | AFYGFQIAMEN | 1 | Arabidopsis thaliana |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |