|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for NR1D2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NR1D2 |
| Gene name | nuclear receptor subfamily 1, group D, member 2 | |
| Synonyms | BD73|EAR-1R|RVR | |
| Cytomap | UCSC genome browser: 3p24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001145425.1, NM_005126.4,NR_110524.1, | |
| Description | V-erbA-related protein 1-relatednuclear receptor Rev-ErbA beta variant 1nuclear receptor Rev-ErbA beta variant 2nuclear receptor subfamily 1 group D member 2orphan nuclear hormone receptor BD73rev-erb alpha-related receptorrev-erb-betarev-erba-alph | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 602304 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000174738 | ||
| HPRD : 03809 | ||
| Vega : OTTHUMG00000155659 | ||
| Protein | UniProt: Q14995 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NR1D2 | |
| BioGPS: 9975 | ||
| Pathway | NCI Pathway Interaction Database: NR1D2 | |
| KEGG: NR1D2 | ||
| REACTOME: NR1D2 | ||
| Pathway Commons: NR1D2 | ||
| Context | iHOP: NR1D2 | |
| ligand binding site mutation search in PubMed: NR1D2 | ||
| UCL Cancer Institute: NR1D2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0045892 | negative regulation of transcription, DNA-templated | 17892483 |
| Top |
| Ligand binding site mutations for NR1D2 |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F450 | A451T | COAD | 1 | F405 | S406L | COAD | 1 | M486 | E488D | COAD | 1 | H568 | N566D | COAD | 1 | F405 | S406L | SKCM | 1 | F161 | R160C | STAD | 1 | V413 | K414N | STAD | 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 NR1D2 |
| 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 | F161 | R160C | -1.0215944 | M486 | E488D | -0.9942551 | H568 | N566D | -0.8060886 | F450 | A451T | -0.617316 | V413 | K414N | -0.35221511 | F405 | S406L | -0.28415763 |
| (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 NR1D2 from PDB |
| Top |
| Differential gene expression and gene-gene network for NR1D2 |
| 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 NR1D2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for NR1D2 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of NR1D2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 3cqv | A | F405 V413 F450 M486 H568 | COH | PROTOPORPHYRIN IX CONTAINING CO | 4n73 | A | F405 V413 M486 H568 |
| Top |
| Conservation information for LBS of NR1D2 |
| Multiple alignments for Q14995 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |