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 NR1H2
Gene summary
Basic gene Info.Gene symbolNR1H2
Gene namenuclear receptor subfamily 1, group H, member 2
SynonymsLXR-b|LXRB|NER|NER-I|RIP15|UNR
CytomapUCSC genome browser: 19q13.3
Type of geneprotein-coding
RefGenesNM_001256647.1,
NM_007121.5,
DescriptionLX receptor betaliver X nuclear receptor betanuclear orphan receptor LXR-betanuclear receptor NERoxysterols receptor LXR-betasteroid hormone-nuclear receptor NERubiquitously-expressed nuclear receptor
Modification date20141207
dbXrefs MIM : 600380
HGNC : HGNC
Ensembl : ENSG00000131408
HPRD : 02660
Vega : OTTHUMG00000183036
ProteinUniProt: P55055
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR1H2
BioGPS: 7376
PathwayNCI Pathway Interaction Database: NR1H2
KEGG: NR1H2
REACTOME: NR1H2
Pathway Commons: NR1H2
ContextiHOP: NR1H2
ligand binding site mutation search in PubMed: NR1H2
UCL Cancer Institute: NR1H2
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:0032376positive regulation of cholesterol transport16141411
GO:0045892negative regulation of transcription, DNA-templated12393874
GO:0045944positive regulation of transcription from RNA polymerase II promoter16141411


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Ligand binding site mutations for NR1H2
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
E32E32KBLCA1
N238Y237CLUAD1
D338S338WLUAD1
R318R319CSTAD1
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 NR1H2
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
E32E32K-1.0335454
(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 NR1H2 from PDB

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Differential gene expression and gene-gene network for NR1H2
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 NR1H2 and the right PPI network was created from samples without mutations in the LBS of NR1H2. 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 NR1H2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular2Biomarker
umls:C0008370Cholestasis1Therapeutic

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

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Pharmacological information for NR1H2
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
ExperimentalDB03791(3-{3-[[2-Chloro-3-(Trifluoromethyl)Benzyl](2,2-Diphenylethyl)Amino]Propoxy}Phenyl)Acetic AcidSmall molecule
ExperimentalDB03848BenzenesulfonylSmall molecule
ExperimentalDB07080N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDESmall molecule
ExperimentalDB070821,1,1,3,3,3-HEXAFLUORO-2-{4-[(2,2,2-TRIFLUOROETHYL)AMINO]PHENYL}PROPAN-2-OLSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NR1H2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of NR1H2
Multiple alignments for P55055 in multiple species
LBSAA sequence# speciesSpecies
A274HFTELAIISVQ3Homo sapiens, Mus musculus, Rattus norvegicus
A274HITEITILTVQ1Drosophila melanogaster
A342DDFHRAGLQVE3Homo sapiens, Mus musculus, Rattus norvegicus
A342DSYKMAGM-AD1Drosophila melanogaster
D283VQEIVDFAKQV3Homo sapiens, Mus musculus, Rattus norvegicus
D283VQLIVEFAKGL1Drosophila melanogaster
D338TYSKDDFHRAG3Homo sapiens, Mus musculus, Rattus norvegicus
D338SYTRDSYKMAG1Drosophila melanogaster
D457LSEIWDVHE--3Homo sapiens, Mus musculus, Rattus norvegicus
D457LEEIWDVHAIP1Drosophila melanogaster
E280IISVQEIVDFA3Homo sapiens, Mus musculus, Rattus norvegicus
E280ILTVQLIVEFA1Drosophila melanogaster
E297LQLGREDQIAL3Homo sapiens, Mus musculus, Rattus norvegicus
E297TKIPQEDQITL1Drosophila melanogaster
E314EIMLLETARRY3Homo sapiens, Mus musculus, Rattus norvegicus
E314EVMMLRMARRY1Drosophila melanogaster
E32SPTIKEE----2Mus musculus, Rattus norvegicus
E32SPTVKEE----1Homo sapiens
E32SPSSLDSHDYC1Drosophila melanogaster
E324YNHETECITFL3Homo sapiens, Mus musculus, Rattus norvegicus
E324YDHSSDSIFFA1Drosophila melanogaster
E454PPLLSEIWDVH3Homo sapiens, Mus musculus, Rattus norvegicus
E454PKFLEEIWDVH1Drosophila melanogaster
F242CNKRSFS----3Homo sapiens, Mus musculus, Rattus norvegicus
F242CQARNIPSLTY1Drosophila melanogaster
F267RQQ-RFAHFTE3Homo sapiens, Mus musculus, Rattus norvegicus
F267QTDVSFRHITE1Drosophila melanogaster
F270-RFAHFTELAI3Homo sapiens, Mus musculus, Rattus norvegicus
F270VSFRHITEITI1Drosophila melanogaster
F328TECITFLKDFT3Homo sapiens, Mus musculus, Rattus norvegicus
F328SDSIFFANNRS1Drosophila melanogaster
F332TFLKDFTYSKD3Homo sapiens, Mus musculus, Rattus norvegicus
F332FFANNRSYTRD1Drosophila melanogaster
F339YSKDDFHRAGL3Homo sapiens, Mus musculus, Rattus norvegicus
F339YTRDSYKMAGM1Drosophila melanogaster
F348GLQVEFINPIF3Homo sapiens, Mus musculus, Rattus norvegicus
F348GM-ADNIEDLL1Drosophila melanogaster
F353FINPIFEFSRA3Homo sapiens, Mus musculus, Rattus norvegicus
F353NIEDLLHFCRQ1Drosophila melanogaster
G343DFHRAGLQVEF3Homo sapiens, Mus musculus, Rattus norvegicus
G343SYKMAGM-ADN1Drosophila melanogaster
H434TLSSVHSEQVF3Homo sapiens, Mus musculus, Rattus norvegicus
H434TLGNQNAEMCF1Drosophila melanogaster
I276TELAIISVQEI3Homo sapiens, Mus musculus, Rattus norvegicus
I276TEITILTVQLI1Drosophila melanogaster
I300GREDQIALLKA3Homo sapiens, Mus musculus, Rattus norvegicus
I300PQEDQITLLKA1Drosophila melanogaster
I308LKASTIEIMLL3Homo sapiens, Mus musculus, Rattus norvegicus
I308LKACSSEVMML1Drosophila melanogaster
I326HETECITFLKD3Homo sapiens, Mus musculus, Rattus norvegicus
I326HSSDSIFFANN1Drosophila melanogaster
I349LQVEFINPIFE3Homo sapiens, Mus musculus, Rattus norvegicus
I349M-ADNIEDLLH1Drosophila melanogaster
I352EFINPIFEFSR3Homo sapiens, Mus musculus, Rattus norvegicus
I352DNIEDLLHFCR1Drosophila melanogaster
I455PLLSEIWDVHE3Homo sapiens, Mus musculus, Rattus norvegicus
I455KFLEEIWDVHA1Drosophila melanogaster
K286IVDFAKQVPGF3Homo sapiens, Mus musculus, Rattus norvegicus
K286IVEFAKGLPAF1Drosophila melanogaster
K304QIALLKASTIE3Homo sapiens, Mus musculus, Rattus norvegicus
K304QITLLKACSSE1Drosophila melanogaster
K336DFTYSKDDFHR3Homo sapiens, Mus musculus, Rattus norvegicus
K336NRSYTRDSYKM1Drosophila melanogaster
L273AHFTELAIISV3Homo sapiens, Mus musculus, Rattus norvegicus
L273RHITEITILTV1Drosophila melanogaster
L312TIEIMLLETAR3Homo sapiens, Mus musculus, Rattus norvegicus
L312SSEVMMLRMAR1Drosophila melanogaster
L329ECITFLKDFTY3Homo sapiens, Mus musculus, Rattus norvegicus
L329DSIFFANNRSY1Drosophila melanogaster
L344FHRAGLQVEFI3Homo sapiens, Mus musculus, Rattus norvegicus
L344YKMAGM-ADNI1Drosophila melanogaster
L441EQVFALRLQDK3Homo sapiens, Mus musculus, Rattus norvegicus
L441EMCFSLKLKNR1Drosophila melanogaster
L448LQDKKLPPLLS3Homo sapiens, Mus musculus, Rattus norvegicus
L448LKNRKLPKFLE1Drosophila melanogaster
L451KKLPPLLSEIW3Homo sapiens, Mus musculus, Rattus norvegicus
L451RKLPKFLEEIW1Drosophila melanogaster
L452KLPPLLSEIWD3Homo sapiens, Mus musculus, Rattus norvegicus
L452KLPKFLEEIWD1Drosophila melanogaster
M311STIEIMLLETA3Homo sapiens, Mus musculus, Rattus norvegicus
M311CSSEVMMLRMA1Drosophila melanogaster
N238L--QCNKRSFS3Homo sapiens, Mus musculus, Rattus norvegicus
N238ILAKCQARNIP1Drosophila melanogaster
N384SADRPNVQEPS2Mus musculus, Rattus norvegicus
N384SADRPNVQEPG1Homo sapiens
N384S-DRPGLEKAQ1Drosophila melanogaster
P450DKKLPPLLSEI3Homo sapiens, Mus musculus, Rattus norvegicus
P450NRKLPKFLEEI1Drosophila melanogaster
Q234-LVAAQL--QC3Homo sapiens, Mus musculus, Rattus norvegicus
Q234PLLPDEILAKC1Drosophila melanogaster
Q279AIISVQEIVDF3Homo sapiens, Mus musculus, Rattus norvegicus
Q279TILTVQLIVEF1Drosophila melanogaster
Q299LGREDQIALLK3Homo sapiens, Mus musculus, Rattus norvegicus
Q299IPQEDQITLLK1Drosophila melanogaster
Q437SVHSEQVFALR3Homo sapiens, Mus musculus, Rattus norvegicus
Q437NQNAEMCFSLK1Drosophila melanogaster
R296FLQLGREDQIA3Homo sapiens, Mus musculus, Rattus norvegicus
R296FTKIPQEDQIT1Drosophila melanogaster
R318LETARRYNHET3Homo sapiens, Mus musculus, Rattus norvegicus
R318LRMARRYDHSS1Drosophila melanogaster
S241QCNKRSFS---3Homo sapiens, Mus musculus, Rattus norvegicus
S241KCQARNIPSLT1Drosophila melanogaster
S277ELAIISVQEIV3Homo sapiens, Mus musculus, Rattus norvegicus
S277EITILTVQLIV1Drosophila melanogaster
T271RFAHFTELAII3Homo sapiens, Mus musculus, Rattus norvegicus
T271SFRHITEITIL1Drosophila melanogaster
T315IMLLETARRYN3Homo sapiens, Mus musculus, Rattus norvegicus
T315VMMLRMARRYD1Drosophila melanogaster
T323RYNHETECITF3Homo sapiens, Mus musculus, Rattus norvegicus
T323RYDHSSDSIFF1Drosophila melanogaster
T333FLKDFTYSKDD3Homo sapiens, Mus musculus, Rattus norvegicus
T333FANNRSYTRDS1Drosophila melanogaster
V278LAIISVQEIVD3Homo sapiens, Mus musculus, Rattus norvegicus
V278ITILTVQLIVE1Drosophila melanogaster
V282SVQEIVDFAKQ3Homo sapiens, Mus musculus, Rattus norvegicus
V282TVQLIVEFAKG1Drosophila melanogaster
V438VHSEQVFALRL3Homo sapiens, Mus musculus, Rattus norvegicus
V438QNAEMCFSLKL1Drosophila melanogaster
W456LLSEIWDVHE-3Homo sapiens, Mus musculus, Rattus norvegicus
W456FLEEIWDVHAI1Drosophila melanogaster
Y334LKDFTYSKDDF3Homo sapiens, Mus musculus, Rattus norvegicus
Y334ANNRSYTRDSY1Drosophila melanogaster


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