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 NR1I2
Gene summary
Basic gene Info.Gene symbolNR1I2
Gene namenuclear receptor subfamily 1, group I, member 2
SynonymsBXR|ONR1|PAR|PAR1|PAR2|PARq|PRR|PXR|SAR|SXR
CytomapUCSC genome browser: 3q12-q13.3
Type of geneprotein-coding
RefGenesNM_003889.3,
NM_022002.2,NM_033013.2,
Descriptionnuclear receptor subfamily 1 group I member 2orphan nuclear receptor PAR1orphan nuclear receptor PXRpregnane X nuclear receptor variant 2pregnane X receptorsteroid and xenobiotic receptor
Modification date20141207
dbXrefs MIM : 603065
HGNC : HGNC
Ensembl : ENSG00000144852
HPRD : 04346
Vega : OTTHUMG00000159400
ProteinUniProt: O75469
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR1I2
BioGPS: 8856
PathwayNCI Pathway Interaction Database: NR1I2
KEGG: NR1I2
REACTOME: NR1I2
Pathway Commons: NR1I2
ContextiHOP: NR1I2
ligand binding site mutation search in PubMed: NR1I2
UCL Cancer Institute: NR1I2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006805xenobiotic metabolic process12578355
GO:0030522intracellular receptor signaling pathway12578355
GO:0042738exogenous drug catabolic process12578355
GO:0042908xenobiotic transport12578355
GO:0045892negative regulation of transcription, DNA-templated11891224
GO:0045893positive regulation of transcription, DNA-templated12578355
GO:0045944positive regulation of transcription from RNA polymerase II promoter11114890
GO:0046618drug export12578355


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Ligand binding site mutations for NR1I2
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
LBSAAchange of nsSNVCancer type# samples
M323M323VCOAD1
L424L424PGBM1
R410R410WKIRC1
K277G278RSKCM1
M243M243TSTAD1
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 NR1I2
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
L424L424P-1.2608232
M243M243T-0.94753758
M323M323V-0.85757104
R410R410W-0.49321313
K277G278R-0.2650572
(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 NR1I2 from PDB

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Differential gene expression and gene-gene network for NR1I2
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 NR1I2 and the right PPI network was created from samples without mutations in the LBS of NR1I2. 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 NR1I2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001418Adenocarcinoma3Biomarker
umls:C0011849Diabetes Mellitus3Biomarker
umls:C0028754Obesity3Biomarker
umls:C0029463Osteosarcoma2AlteredExpression, Biomarker
umls:C0860207Drug-Induced Liver Injury2Biomarker, GeneticVariation
umls:C0015695Fatty Liver2Biomarker
umls:C0524620Metabolic Syndrome X2Biomarker
umls:C0022353Jaundice, Neonatal1Biomarker
umls:C0004763Barrett Esophagus1Biomarker
umls:C0014859Esophageal Neoplasms1Biomarker
umls:C0019209Hepatomegaly1Biomarker
umls:C0085682Hypophosphatemia1Biomarker
umls:C0021361Infertility, Female1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NR1I2
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
Approved|nutraceutical|vet_approvedDB00163Vitamin ESmall molecule
Approved|investigationalDB00530ErlotinibSmall molecule
Approved|investigational|vet_approvedDB00783EstradiolSmall molecule
ApprovedDB00977Ethinyl EstradiolSmall molecule
ApprovedDB01045RifampicinSmall molecule
Approved|investigationalDB01220RifaximinSmall molecule
Approved|vet_approvedDB01229PaclitaxelSmall molecule
Approved|investigationalDB01248DocetaxelSmall molecule
NutraceuticalDB01708DehydroepiandrosteroneSmall molecule
NutraceuticalDB01892HyperforinSmall molecule
ExperimentalDB04466SR12813Small molecule
ExperimentalDB07080N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDESmall molecule
ApprovedDB08864RilpivirineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NR1I2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (SER,LEU,THR,GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU)1nrlAK277
IIIPeptide ligand (SER,LEU,THR,GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU)2o9iAK277
IIIPeptide ligand (SER,LEU,THR,GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU)5a86AK277
IIIPeptide ligand (SER,LEU,THR,GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU)1nrlBK277 L424
IIIPeptide ligand (SER,LEU,THR,GLU,ARG,HIS,LYS,ILE,LEU,HIS,ARG,LEU,LEU,GLN,GLU,GLY,SER)5a86BK277 L424
SRL4-[2,2-BIS(DIETHOXYPHOSPHORYL)ETHENYL]-2,6-DITERT-BUTYLPHENOL1ilhAM243
444N-[4-(1,1,1,3,3,3-HEXAFLUORO-2-HYDROXYPROPAN-2-YL)PHENYL]-N-(2,2,2-TRIFLUOROETHYL)BENZENESULFONAMIDE2o9iAM243
PNU6-CHLORO-2-(1-FURO[2,3-C]PYRIDIN-5-YL-ETHYLSULFANYL)-PYRIMIDIN-4-YLAMINE3r8dAM243
HYFHYPERFORIN1m13AM243 M323
SRL4-[2,2-BIS(DIETHOXYPHOSPHORYL)ETHENYL]-2,6-DITERT-BUTYLPHENOL1nrlAM243 M323
SRL4-[2,2-BIS(DIETHOXYPHOSPHORYL)ETHENYL]-2,6-DITERT-BUTYLPHENOL1nrlBM243 M323
RFPRIFAMPICIN1skxAM243 M323
SRL4-[2,2-BIS(DIETHOXYPHOSPHORYL)ETHENYL]-2,6-DITERT-BUTYLPHENOL3hvlAM243 M323
2Q4N-{(2R)-1-[(4S)-4-(4-CHLOROPHENYL)-4-HYDROXY-3,3- DIMETHYLPIPERIDIN-1-YL]-3-METHYL-1-OXOBUTAN-2-YL}-3- HYDROXY-3-METHYLBUTANAMIDE4ny9AM243 M323
40UN-{(2R)-1-[(4S)-4-(4-CHLOROPHENYL)-4-HYDROXY-3,3- DIMETHYLPIPERIDIN-1-YL]-3-METHYL-1-OXOBUTAN-2-YL}-2- CYCLOPROPYLACETAMIDE4xhdAM243 M323
40UN-{(2R)-1-[(4S)-4-(4-CHLOROPHENYL)-4-HYDROXY-3,3- DIMETHYLPIPERIDIN-1-YL]-3-METHYL-1-OXOBUTAN-2-YL}-2- CYCLOPROPYLACETAMIDE4s0tAM243 M323
40UN-{(2R)-1-[(4S)-4-(4-CHLOROPHENYL)-4-HYDROXY-3,3- DIMETHYLPIPERIDIN-1-YL]-3-METHYL-1-OXOBUTAN-2-YL}-2- CYCLOPROPYLACETAMIDE4s0tBM243 M323
3WGTRANS-NONACHLOR4x1gAM243 M323
D7E4-CHLORO-N-[(1R)-1-[1-ETHYL-6- (TRIFLUOROMETHYL)BENZIMIDAZOL-2-YL]ETHYL] BENZENESULFONAMIDE5a86AM243 M323
D7E4-CHLORO-N-[(1R)-1-[1-ETHYL-6- (TRIFLUOROMETHYL)BENZIMIDAZOL-2-YL]ETHYL] BENZENESULFONAMIDE5a86BM243 M323
CDZ3,5-DIHYDROXY-4,6,6-TRIS(3-METHYLBUT-2-EN-1-YL)-2-(2-METHYLPROPANOYL)CYCLOHEXA-2,4-DIEN-1-ONE2qnvAM243 M323 R410
3WFETHINYL ESTRADIOL4x1fAM243 R410
3WFETHINYL ESTRADIOL4x1gAM243 R410


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Conservation information for LBS of NR1I2
Multiple alignments for O75469 in multiple species
LBSAA sequence# speciesSpecies
A244LLPHMADMSTY2Homo sapiens, Macaca mulatta
A244LLPHLADVSTY2Mus musculus, Rattus norvegicus
A244KLLQLINLTAV1Drosophila melanogaster
C284ATFEMCILRFN2Mus musculus, Rattus norvegicus
C284AAFELCQLRFN1Homo sapiens
C284GCTEMMIMRSV1Drosophila melanogaster
C284ATFELCQLRFN1Macaca mulatta
C301TGTWECGRLSY2Homo sapiens, Macaca mulatta
C301TGTWECGRLAY2Mus musculus, Rattus norvegicus
C301RAAWKVPHTKE1Drosophila melanogaster
D205SQVRKDLCSLK1Homo sapiens
D205SDFSINSIESV1Drosophila melanogaster
D205SQIMKDRVPMK1Mus musculus
D205SQIMKDSVPMK1Rattus norvegicus
D205NQVRKDLWSVK1Macaca mulatta
E270RDLPIEDQISL3Homo sapiens, Mus musculus, Macaca mulatta
E270RDMCQEDQVAL1Drosophila melanogaster
E270RELPIEDQISL1Rattus norvegicus
E427TPLMQELFGIT2Homo sapiens, Macaca mulatta
E427TPLMQELFSST2Mus musculus, Rattus norvegicus
E427EPLLREIFDLK1Drosophila melanogaster
F251VSTYMFKGVIN2Mus musculus, Rattus norvegicus
F251MSTYMFKGIIS1Homo sapiens
F251LTAVAIKRLIK1Drosophila melanogaster
F251MSTYMFKGIIN1Macaca mulatta
F281LKGATFEMCIL2Mus musculus, Rattus norvegicus
F281LKGAAFELCQL1Homo sapiens
F281LKGGCTEMMIM1Drosophila melanogaster
F281LKGATFELCQL1Macaca mulatta
F288LCQLRFNTVFN2Homo sapiens, Macaca mulatta
F288MCILRFNTMFD2Mus musculus, Rattus norvegicus
F288MMIMRSVMIYD1Drosophila melanogaster
F420QDIHPFATPLM2Homo sapiens, Macaca mulatta
F420NPSQ--VEPLL1Drosophila melanogaster
F420QDSHPFATPLM1Mus musculus
F420QDTHPFATPLM1Rattus norvegicus
F429LMQELFGITGS2Homo sapiens, Macaca mulatta
F429LMQELFSSTDG2Mus musculus, Rattus norvegicus
F429LLREIFDLKNH1Drosophila melanogaster
H242-SLLPHMADMS2Homo sapiens, Macaca mulatta
H242-PLLPHLADVS2Mus musculus, Rattus norvegicus
H242NPKLLQLINLT1Drosophila melanogaster
H327PMLKFHYML-K2Homo sapiens, Macaca mulatta
H327PLMKFHCML-K2Mus musculus, Rattus norvegicus
H327EHQKFITTFDE1Drosophila melanogaster
H407SINAQHTQRLL2Homo sapiens, Macaca mulatta
H407SINAQQTQQLL2Mus musculus, Rattus norvegicus
H407RLNKFIINVYL1Drosophila melanogaster
I255MFKGVINFAKV2Mus musculus, Rattus norvegicus
I255MFKGIISFAKV1Homo sapiens
I255AIKRLIKMAKK1Drosophila melanogaster
I255MFKGIINFAKV1Macaca mulatta
I269FRDLPIEDQIS3Homo sapiens, Mus musculus, Macaca mulatta
I269FRDMCQEDQVA1Drosophila melanogaster
I269FRELPIEDQIS1Rattus norvegicus
I273PIEDQISLLKG4Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta
I273CQEDQVALLKG1Drosophila melanogaster
I414QRLLRIQDIHP2Homo sapiens, Macaca mulatta
I414NVYLNVNPSQ-1Drosophila melanogaster
I414QQLLRIQDSHP1Mus musculus
I414QQLLRIQDTHP1Rattus norvegicus
K210DLCSLKVSLQL1Homo sapiens
K210NSIESVLSEVI1Drosophila melanogaster
K210DRVPMKISLQL1Mus musculus
K210DSVPMKISVQL1Rattus norvegicus
K210DLWSVKVSVQL1Macaca mulatta
K252STYMFKGVINF2Mus musculus, Rattus norvegicus
K252STYMFKGIISF1Homo sapiens
K252TAVAIKRLIKM1Drosophila melanogaster
K252STYMFKGIINF1Macaca mulatta
K259IISFAKVISYF1Homo sapiens
K259LIKMAKKITAF1Drosophila melanogaster
K259VINFAKVISYF1Mus musculus
K259VINFAKVISHF1Rattus norvegicus
K259IINFAKVISYF1Macaca mulatta
K277QISLLKGATFE3Mus musculus, Rattus norvegicus, Macaca mulatta
K277QISLLKGAAFE1Homo sapiens
K277QVALLKGGCTE1Drosophila melanogaster
L206QVRKDLCSLKV1Homo sapiens
L206DFSINSIESVL1Drosophila melanogaster
L206QIMKDRVPMKI1Mus musculus
L206QIMKDSVPMKI1Rattus norvegicus
L206QVRKDLWSVKV1Macaca mulatta
L209KDLCSLKVSLQ1Homo sapiens
L209INSIESVLSEV1Drosophila melanogaster
L209KDRVPMKISLQ1Mus musculus
L209KDSVPMKISVQ1Rattus norvegicus
L209KDLWSVKVSVQ1Macaca mulatta
L240---SLLPHMAD2Homo sapiens, Macaca mulatta
L240---PLLPHLAD2Mus musculus, Rattus norvegicus
L240RHNPKLLQLIN1Drosophila melanogaster
L276DQISLLKGATF3Mus musculus, Rattus norvegicus, Macaca mulatta
L276DQISLLKGAAF1Homo sapiens
L276DQVALLKGGCT1Drosophila melanogaster
L324LLEPMLKFHYM2Homo sapiens, Macaca mulatta
L324LLDPLMKFHCM2Mus musculus, Rattus norvegicus
L324IYEEHQKFITT1Drosophila melanogaster
L411QHTQRLLRIQD2Homo sapiens, Macaca mulatta
L411QQTQQLLRIQD2Mus musculus, Rattus norvegicus
L411FIINVYLNVNP1Drosophila melanogaster
L424PFATPLMQELF4Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta
L424--VEPLLREIF1Drosophila melanogaster
L428PLMQELFGITG2Homo sapiens, Macaca mulatta
L428PLMQELFSSTD2Mus musculus, Rattus norvegicus
L428PLLREIFDLKN1Drosophila melanogaster
M243SLLPHMADMST2Homo sapiens, Macaca mulatta
M243PLLPHLADVST2Mus musculus, Rattus norvegicus
M243PKLLQLINLTA1Drosophila melanogaster
M246PHMADMSTYMF2Homo sapiens, Macaca mulatta
M246PHLADVSTYMF2Mus musculus, Rattus norvegicus
M246LQLINLTAVAI1Drosophila melanogaster
M323-LLEPMLKFHY2Homo sapiens, Macaca mulatta
M323-LLDPLMKFHC2Mus musculus, Rattus norvegicus
M323NIYEEHQKFIT1Drosophila melanogaster
M425FATPLMQELFG2Homo sapiens, Macaca mulatta
M425FATPLMQELFS2Mus musculus, Rattus norvegicus
M425-VEPLLREIFD1Drosophila melanogaster
P423HPFATPLMQEL4Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta
P423Q--VEPLLREI1Drosophila melanogaster
Q272LPIEDQISLLK4Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta
Q272MCQEDQVALLK1Drosophila melanogaster
Q285TFEMCILRFNT2Mus musculus, Rattus norvegicus
Q285AFELCQLRFNT1Homo sapiens
Q285CTEMMIMRSVM1Drosophila melanogaster
Q285TFELCQLRFNT1Macaca mulatta
R410AQHTQRLLRIQ2Homo sapiens, Macaca mulatta
R410AQQTQQLLRIQ2Mus musculus, Rattus norvegicus
R410KFIINVYLNVN1Drosophila melanogaster
S208RKDLCSLKVSL1Homo sapiens
S208SINSIESVLSE1Drosophila melanogaster
S208MKDRVPMKISL1Mus musculus
S208MKDSVPMKISV1Rattus norvegicus
S208RKDLWSVKVSV1Macaca mulatta
S247HMADMSTYMFK2Homo sapiens, Macaca mulatta
S247HLADVSTYMFK2Mus musculus, Rattus norvegicus
S247QLINLTAVAIK1Drosophila melanogaster
S274IEDQISLLKGA4Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta
S274QEDQVALLKGG1Drosophila melanogaster
T49CGDKATGYHFN2Homo sapiens, Macaca mulatta
T49CGDKANGYHFN2Mus musculus, Rattus norvegicus
T49CGDKALGYNFN1Drosophila melanogaster
V211LCSLKVSLQLR1Homo sapiens
V211SIESVLSEVIR1Drosophila melanogaster
V211RVPMKISLQLR1Mus musculus
V211SVPMKISVQLR1Rattus norvegicus
V211LWSVKVSVQLR1Macaca mulatta
V260INFAKVISYFR2Mus musculus, Macaca mulatta
V260ISFAKVISYFR1Homo sapiens
V260IKMAKKITAFR1Drosophila melanogaster
V260INFAKVISHFR1Rattus norvegicus
W299AETGTWECGRL2Homo sapiens, Macaca mulatta
W299TETGTWECGRL2Mus musculus, Rattus norvegicus
W299DDRAAWKVPHT1Drosophila melanogaster
Y306CGRLAYCFEDP2Mus musculus, Rattus norvegicus
Y306CGRLSYCLEDT1Homo sapiens
Y306VPHTKENMGNI1Drosophila melanogaster
Y306CGRLSYCLEDP1Macaca mulatta


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