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 NR2E1
Gene summary
Basic gene Info.Gene symbolNR2E1
Gene namenuclear receptor subfamily 2, group E, member 1
CytomapUCSC genome browser: 6q21
Type of geneprotein-coding
Descriptionnuclear receptor TLXnuclear receptor subfamily 2 group E member 1protein tailless homologtailes-related receptortailless homolog
Modification date20141207
dbXrefs MIM : 603849
Ensembl : ENSG00000112333
HPRD : 07230
Vega : OTTHUMG00000015319
ProteinUniProt: Q9Y466
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR2E1
BioGPS: 7101
PathwayNCI Pathway Interaction Database: NR2E1
Pathway Commons: NR2E1
ContextiHOP: NR2E1
ligand binding site mutation search in PubMed: NR2E1
UCL Cancer Institute: NR2E1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for NR2E1
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
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.

Protein structure related information for NR2E1
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
(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 NR2E1 from PDB

Differential gene expression and gene-gene network for NR2E1
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 NR2E1 and the right PPI network was created from samples without mutations in the LBS of NR2E1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NR2E1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for NR2E1
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NR2E1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NR2E1
Multiple alignments for Q9Y466 in multiple species
LBSAA sequence# speciesSpecies
A190VCESAARLLFM3Homo sapiens, Mus musculus, Gallus gallus
A190ITSKQIRTETI1Caenorhabditis elegans
C186ATESVCESAAR3Homo sapiens, Mus musculus, Gallus gallus
C186ETRAITSKQIR1Caenorhabditis elegans
E183YEVATESVCES3Homo sapiens, Mus musculus, Gallus gallus
E183HATETRAITSK1Caenorhabditis elegans
E187TESVCESAARL3Homo sapiens, Mus musculus, Gallus gallus
E187TRAITSKQIRT1Caenorhabditis elegans
F194AARLLFMSIKW3Homo sapiens, Mus musculus, Gallus gallus
F194QIRTETISGSS1Caenorhabditis elegans
F363IEEVFFKKTIG3Homo sapiens, Mus musculus, Gallus gallus
F363ASSPSSSRPRH1Caenorhabditis elegans
I372GNV-PITRLLS3Homo sapiens, Mus musculus, Gallus gallus
I372HSIRSITELLS1Caenorhabditis elegans
K365EVFFKKTIGNV3Homo sapiens, Mus musculus, Gallus gallus
K365SPSSSRPRHSI1Caenorhabditis elegans
L376PITRLLS----3Homo sapiens, Mus musculus, Gallus gallus
L376SITELLSIQEE1Caenorhabditis elegans
R191CESAARLLFMS3Homo sapiens, Mus musculus, Gallus gallus
R191TSKQIRTETIS1Caenorhabditis elegans
S377ITRLLS----D3Homo sapiens, Mus musculus, Gallus gallus
S377ITELLSIQEEE1Caenorhabditis elegans
T366VFFKKTIGNV-3Homo sapiens, Mus musculus, Gallus gallus
T366PSSSRPRHSIR1Caenorhabditis elegans
Y380---DMYKSSDI3Homo sapiens, Mus musculus, Gallus gallus
Y380QEEESVNVEEV1Caenorhabditis elegans

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