mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NR3C2
Gene summary
Basic gene Info.Gene symbolNR3C2
Gene namenuclear receptor subfamily 3, group C, member 2
SynonymsMCR|MLR|MR|NR3C2VIT
CytomapUCSC genome browser: 4q31.1
Type of geneprotein-coding
RefGenesNM_000901.4,
NM_001166104.1,
Descriptionaldosterone receptormineralocorticoid receptormineralocorticoid receptor 1mineralocorticoid receptor delta
Modification date20141222
dbXrefs MIM : 600983
HGNC : HGNC
Ensembl : ENSG00000151623
HPRD : 02991
Vega : OTTHUMG00000161455
ProteinUniProt: P08235
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR3C2
BioGPS: 4306
PathwayNCI Pathway Interaction Database: NR3C2
KEGG: NR3C2
REACTOME: NR3C2
Pathway Commons: NR3C2
ContextiHOP: NR3C2
ligand binding site mutation search in PubMed: NR3C2
UCL Cancer Institute: NR3C2
Assigned class in mutLBSgeneDBA: 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 IDGO TermPubMed ID


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Ligand binding site mutations for NR3C2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S810S810LBLCA1
R817S818LCOAD1
F829Y828CGBM1
C606C606WGBM1
K785L787FKIRC1
A958,F956P957HSKCM1
P656P656RSKCM1
T945R947LSKCM1
K785A784VSTAD1
A958,F956P957LSTAD1
G621G621DSTAD1
K653K653NUCEC1
R652R652QUCEC1
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

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.
LBSAAchange of nsSNVRelative stability change
S810S810L0.051878907
R652R652Q-1.477791
K785L787F-1.2558842
G621G621D-1.0851655
P656P656R-1.0725337
F829Y828C-1.0147331
K653K653N-1.0111463
F956P957H-0.83074416
A958P957H-0.83074416
K785A784V-0.78029078
C606C606W-0.54915348
R817S818L-0.30398057
F956P957L-0.17036186
A958P957L-0.17036186
T945R947L-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)
* Left PPI network was created from samples with mutations in the LBS of NR3C2 and the right PPI network was created from samples without mutations in the LBS of NR3C2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NR3C2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033805Pseudohypoaldosteronism12Biomarker, GeneticVariation
umls:C0018801Heart Failure11Biomarker
umls:C0027051Myocardial Infarction8Biomarker, GeneticVariation
umls:C1449842PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT7Biomarker, GeneticVariation
umls:C0007193Cardiomyopathy, Dilated2Biomarker
umls:C0014175Endometriosis1Biomarker
umls:C0242698Ventricular Dysfunction, Left1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
23596S810LPathogenicGermline-
23610S818LPathogenicGermlineMedGen: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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00393NimodipineSmall molecule
Approved|vet_approvedDB00396ProgesteroneSmall molecule
ApprovedDB00421SpironolactoneSmall molecule
ApprovedDB00588Fluticasone PropionateSmall molecule
ApprovedDB00687FludrocortisoneSmall molecule
ApprovedDB00700EplerenoneSmall molecule
Approved|investigationalDB01023FelodipineSmall molecule
Experimental|vet_approvedDB01134Desoxycorticosterone PivalateSmall molecule
ApprovedDB01395DrospirenoneSmall molecule
ExperimentalDB04630AldosteroneSmall molecule
ExperimentalDB04652(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NR3C2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4tntAC606
ZNZINC(2+)4tntBC606
HFN6-[1-(2,2-DIFLUORO-3-HYDROXYPROPYL)-5-(4-FLUOROPHENYL)- 3-METHYL-1H-PYRAZOL-4-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE4pf3AF829 T945
LD16-[(7S)-7-PHENYL-7H-[1,2,4]TRIAZOLO[3,4-B][1,3,4]THIADIAZIN-6-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE3vhvAF829 T945 F956
WFF6-[4-(2,4-DIFLUOROPHENYL)-5-OXO-2,5-DIHYDROFURAN-3-YL]- 2H-1,4-BENZOXAZIN-3(4H)-ONE3wffAF829 T945 F956
WFG6-[(2S)-4-(4-FLUOROPHENYL)-2-METHYL-5-OXO-2,5- DIHYDROFURAN-3-YL]-2H-1,4-BENZOXAZIN-3(4H)-ONE3wfgAF829 T945 F956
NUCNucleic Acids4tntBG621 R652 K653
NUCNucleic Acids4tntAG621 R652 K653 P656
IIIPeptide ligand (GLN,GLN,LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU)2a3iAK785
IIIPeptide ligand (LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU)4udaAK785 A958
IIIPeptide ligand (GLN,GLN,LYS,SER,LEU,LEU,GLN,GLN,LEU,LEU,THR,GLU)4udbAK785 A958
STRPROGESTERONE1ya3AR817 F829
SNLSPIRONOLACTONE2oaxCR817 F829 F956
SNLSPIRONOLACTONE2oaxER817 F829 F956
SNLSPIRONOLACTONE2oaxFR817 F829 F956
STRPROGESTERONE1ya3BR817 F829 T945
STRPROGESTERONE1ya3CR817 F829 T945
STRPROGESTERONE2aa6AR817 F829 T945
STRPROGESTERONE2aa6BR817 F829 T945
1CA11-DEOXYCORTICOSTERONE1y9rBR817 F829 T945 F956
PDNPREDNISONE2aaxAR817 F829 T945 F956
PDNPREDNISONE2aaxBR817 F829 T945 F956
SNLSPIRONOLACTONE2ab2AR817 F829 T945 F956
SNLSPIRONOLACTONE2ab2BR817 F829 T945 F956
SNLSPIRONOLACTONE2oaxAR817 F829 T945 F956
SNLSPIRONOLACTONE2oaxBR817 F829 T945 F956
SNLSPIRONOLACTONE2oaxDR817 F829 T945 F956
SNLSPIRONOLACTONE3vhuAR817 F829 T945 F956
CV7DESISOBUYTYRYL CICLESONIDE4udbAR817 F829 T945 F956
1CA11-DEOXYCORTICOSTERONE1y9rAR817 T945
STRPROGESTERONE2aa5AS810 R817 F829
STRPROGESTERONE2aa5BS810 R817 F829 T945
C0RCORTICOSTERONE2a3iAS810 R817 F829 T945 F956
AS4ALDOSTERONE2aa2AS810 R817 F829 T945 F956
1CA11-DEOXYCORTICOSTERONE2aa7AS810 R817 F829 T945 F956
1CA11-DEOXYCORTICOSTERONE2abiAS810 R817 F829 T945 F956
1CA11-DEOXYCORTICOSTERONE2abiBS810 R817 F829 T945 F956
1CA11-DEOXYCORTICOSTERONE2abiCS810 R817 F829 T945 F956
DEXDEXAMETHASONE4udaAS810 R817 F829 T945 F956
LD26-[(1E)-N-(3-MERCAPTO-4H-1,2,4-TRIAZOLO-4-YL)-2-PHENYLETHANIMIDOYL]-2H-1,4-BENZOOXAZIN-3(4H)-ONE3vhvAT945


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Conservation information for LBS of NR3C2
Multiple alignments for P08235 in multiple species
LBSAA sequence# speciesSpecies


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