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mutLBSgeneDB |
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| Gene summary for NR3C2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NR3C2 |
| Gene name | nuclear receptor subfamily 3, group C, member 2 | |
| Synonyms | MCR|MLR|MR|NR3C2VIT | |
| Cytomap | UCSC genome browser: 4q31.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000901.4, NM_001166104.1, | |
| Description | aldosterone receptormineralocorticoid receptormineralocorticoid receptor 1mineralocorticoid receptor delta | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600983 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151623 | ||
| HPRD : 02991 | ||
| Vega : OTTHUMG00000161455 | ||
| Protein | UniProt: P08235 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NR3C2 | |
| BioGPS: 4306 | ||
| Pathway | NCI Pathway Interaction Database: NR3C2 | |
| KEGG: NR3C2 | ||
| REACTOME: NR3C2 | ||
| Pathway Commons: NR3C2 | ||
| Context | iHOP: NR3C2 | |
| ligand binding site mutation search in PubMed: NR3C2 | ||
| UCL Cancer Institute: NR3C2 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for NR3C2. | 1. Riepe, F. G., Finkeldei, J., de Sanctis, L., Einaudi, S., Testa, A., Karges, B., ... & Fejes-Toth, G. (2006). Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. The Journal of Clinical Endocrinology & Metabolism, 91(11), 4552-4561. 16954160 | |
| 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 NR3C2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S810 | S810L | BLCA | 1 | R817 | S818L | COAD | 1 | F829 | Y828C | GBM | 1 | C606 | C606W | GBM | 1 | K785 | L787F | KIRC | 1 | A958,F956 | P957H | SKCM | 1 | P656 | P656R | SKCM | 1 | T945 | R947L | SKCM | 1 | K785 | A784V | STAD | 1 | A958,F956 | P957L | STAD | 1 | G621 | G621D | STAD | 1 | K653 | K653N | UCEC | 1 | R652 | R652Q | 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 NR3C2 |
| 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 | S810 | S810L | 0.051878907 | R652 | R652Q | -1.477791 | K785 | L787F | -1.2558842 | G621 | G621D | -1.0851655 | P656 | P656R | -1.0725337 | F829 | Y828C | -1.0147331 | K653 | K653N | -1.0111463 | F956 | P957H | -0.83074416 | A958 | P957H | -0.83074416 | K785 | A784V | -0.78029078 | C606 | C606W | -0.54915348 | R817 | S818L | -0.30398057 | F956 | P957L | -0.17036186 | A958 | P957L | -0.17036186 | T945 | R947L | -0.057827869 |
| (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 NR3C2 from PDB |
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| Differential gene expression and gene-gene network for NR3C2 |
| 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 NR3C2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033805 | Pseudohypoaldosteronism | 12 | Biomarker, GeneticVariation |
| umls:C0018801 | Heart Failure | 11 | Biomarker |
| umls:C0027051 | Myocardial Infarction | 8 | Biomarker, GeneticVariation |
| umls:C1449842 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | 7 | Biomarker, GeneticVariation |
| umls:C0007193 | Cardiomyopathy, Dilated | 2 | Biomarker |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| umls:C0242698 | Ventricular Dysfunction, Left | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 23596 | S810L | Pathogenic | Germline | - |
| 23610 | S818L | Pathogenic | Germline | MedGen:C1449842 OMIM:177735 Orphanet:ORPHA171871 Orphanet:ORPHA756 |
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| Pharmacological information for NR3C2 |
| 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 | DB00393 | Nimodipine | Small molecule |  |
| Approved|vet_approved | DB00396 | Progesterone | Small molecule |  |
| Approved | DB00421 | Spironolactone | Small molecule |  |
| Approved | DB00588 | Fluticasone Propionate | Small molecule |  |
| Approved | DB00687 | Fludrocortisone | Small molecule |  |
| Approved | DB00700 | Eplerenone | Small molecule |  |
| Approved|investigational | DB01023 | Felodipine | Small molecule |  |
| Experimental|vet_approved | DB01134 | Desoxycorticosterone Pivalate | Small molecule |  |
| Approved | DB01395 | Drospirenone | Small molecule |  |
| Experimental | DB04630 | Aldosterone | Small molecule |  |
| Experimental | DB04652 | (11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NR3C2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4tnt | A | C606 | ZN | ZINC(2+) | 4tnt | B | C606 | HFN | 6-[1-(2,2-DIFLUORO-3-HYDROXYPROPYL)-5-(4-FLUOROPHENYL)- 3-METHYL-1H-PYRAZOL-4-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE | 4pf3 | A | F829 T945 | LD1 | 6-[(7S)-7-PHENYL-7H-[1,2,4]TRIAZOLO[3,4-B][1,3,4]THIADIAZIN-6-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE | 3vhv | A | F829 T945 F956 | WFF | 6-[4-(2,4-DIFLUOROPHENYL)-5-OXO-2,5-DIHYDROFURAN-3-YL]- 2H-1,4-BENZOXAZIN-3(4H)-ONE | 3wff | A | F829 T945 F956 | WFG | 6-[(2S)-4-(4-FLUOROPHENYL)-2-METHYL-5-OXO-2,5- DIHYDROFURAN-3-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE | 3wfg | A | F829 T945 F956 | NUC | Nucleic Acids | 4tnt | B | G621 R652 K653 | NUC | Nucleic Acids | 4tnt | A | G621 R652 K653 P656 | III | Peptide ligand (GLN,GLN,LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU) | 2a3i | A | K785 | III | Peptide ligand (LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU) | 4uda | A | K785 A958 | III | Peptide ligand (GLN,GLN,LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU) | 4udb | A | K785 A958 | STR | PROGESTERONE | 1ya3 | A | R817 F829 | SNL | SPIRONOLACTONE | 2oax | C | R817 F829 F956 | SNL | SPIRONOLACTONE | 2oax | E | R817 F829 F956 | SNL | SPIRONOLACTONE | 2oax | F | R817 F829 F956 | STR | PROGESTERONE | 1ya3 | B | R817 F829 T945 | STR | PROGESTERONE | 1ya3 | C | R817 F829 T945 | STR | PROGESTERONE | 2aa6 | A | R817 F829 T945 | STR | PROGESTERONE | 2aa6 | B | R817 F829 T945 | 1CA | 11-DEOXYCORTICOSTERONE | 1y9r | B | R817 F829 T945 F956 | PDN | PREDNISONE | 2aax | A | R817 F829 T945 F956 | PDN | PREDNISONE | 2aax | B | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 2ab2 | A | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 2ab2 | B | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 2oax | A | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 2oax | B | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 2oax | D | R817 F829 T945 F956 | SNL | SPIRONOLACTONE | 3vhu | A | R817 F829 T945 F956 | CV7 | DESISOBUYTYRYL CICLESONIDE | 4udb | A | R817 F829 T945 F956 | 1CA | 11-DEOXYCORTICOSTERONE | 1y9r | A | R817 T945 | STR | PROGESTERONE | 2aa5 | A | S810 R817 F829 | STR | PROGESTERONE | 2aa5 | B | S810 R817 F829 T945 | C0R | CORTICOSTERONE | 2a3i | A | S810 R817 F829 T945 F956 | AS4 | ALDOSTERONE | 2aa2 | A | S810 R817 F829 T945 F956 | 1CA | 11-DEOXYCORTICOSTERONE | 2aa7 | A | S810 R817 F829 T945 F956 | 1CA | 11-DEOXYCORTICOSTERONE | 2abi | A | S810 R817 F829 T945 F956 | 1CA | 11-DEOXYCORTICOSTERONE | 2abi | B | S810 R817 F829 T945 F956 | 1CA | 11-DEOXYCORTICOSTERONE | 2abi | C | S810 R817 F829 T945 F956 | DEX | DEXAMETHASONE | 4uda | A | S810 R817 F829 T945 F956 | LD2 | 6-[(1E)-N-(3-MERCAPTO-4H-1,2,4-TRIAZOLO-4-YL)-2-PHENYLETHANIMIDOYL]-2H-1,4-BENZOOXAZIN-3(4H)-ONE | 3vhv | A | T945 |
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| Conservation information for LBS of NR3C2 |
| Multiple alignments for P08235 in multiple species |
| LBS | AA sequence | # species | Species |
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