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 DRD3
Gene summary
Basic gene Info.Gene symbolDRD3
Gene namedopamine receptor D3
SynonymsD3DR|ETM1|FET1
CytomapUCSC genome browser: 3q13.3
Type of geneprotein-coding
RefGenesNM_000796.5,
NM_001282563.2,NM_001290809.1,NM_033663.5,NM_033658.1,
NM_033659.1,NM_033660.1,
DescriptionD(3) dopamine receptoressential tremor 1
Modification date20141207
dbXrefs MIM : 126451
HGNC : HGNC
Ensembl : ENSG00000151577
HPRD : 00540
Vega : OTTHUMG00000159334
ProteinUniProt: P35462
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DRD3
BioGPS: 1814
PathwayNCI Pathway Interaction Database: DRD3
KEGG: DRD3
REACTOME: DRD3
Pathway Commons: DRD3
ContextiHOP: DRD3
ligand binding site mutation search in PubMed: DRD3
UCL Cancer Institute: DRD3
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:0002031G-protein coupled receptor internalization18424554
GO:0006874cellular calcium ion homeostasis7911712
GO:0007186G-protein coupled receptor signaling pathway7911712
GO:0007191adenylate cyclase-activating dopamine receptor signaling pathway18424554
GO:0007194negative regulation of adenylate cyclase activity7907363
GO:0007195adenylate cyclase-inhibiting dopamine receptor signaling pathway18424554
GO:0030814regulation of cAMP metabolic process8666994
GO:0034776response to histamine16839358
GO:0050482arachidonic acid secretion8301582
GO:0050709negative regulation of protein secretion16839358


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Ligand binding site mutations for DRD3
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
C114T115ICOAD1
F106D104YLUAD1
D110D110NLUSC1
F106F106CSKCM1
V189I190NSTAD1
H349T348AUCEC1
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 DRD3
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
V189I190N-1.3250301
F106F106C-1.1142836
D110D110N-1.0478826
H349T348A-0.86313206
F106D104Y-0.53167257
C114T115I-0.21039014
(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 DRD3 from PDB

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Differential gene expression and gene-gene network for DRD3
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 DRD3 and the right PPI network was created from samples without mutations in the LBS of DRD3. 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 DRD3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036341Schizophrenia114AlteredExpression, Biomarker, GeneticVariation
umls:C0236736Cocaine-Related Disorders7Biomarker, GeneticVariation, Therapeutic
umls:C0040517Tourette Syndrome5Biomarker, GeneticVariation
umls:C0021122Impulse Control Disorders5Biomarker, GeneticVariation
umls:C0004352Autistic Disorder3Biomarker, GeneticVariation
umls:C0026650Movement Disorders3Biomarker, Therapeutic
umls:C0036572Seizures2Biomarker, Therapeutic
umls:C0013386Dyskinesia, Drug-Induced2Biomarker, GeneticVariation
umls:C0020429Hyperalgesia2Biomarker, GeneticVariation
umls:C0236733Amphetamine-Related Disorders1Biomarker
umls:C0004782Basal Ganglia Diseases1Biomarker
umls:C0009241Cognition Disorders1Biomarker
umls:C0016995Gambling1Biomarker
umls:C0424295Hyperkinesis1Therapeutic

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

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Pharmacological information for DRD3
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
ApprovedDB00246ZiprasidoneSmall molecule
ApprovedDB00248CabergolineSmall molecule
Approved|investigationalDB00268RopiniroleSmall molecule
Approved|investigationalDB00334OlanzapineSmall molecule
ApprovedDB00363ClozapineSmall molecule
ApprovedDB00370MirtazapineSmall molecule
ApprovedDB00391SulpirideSmall molecule
ApprovedDB00408LoxapineSmall molecule
Approved|withdrawnDB00409RemoxiprideSmall molecule
Approved|investigationalDB00413PramipexoleSmall molecule
Approved|vet_approvedDB00477ChlorpromazineSmall molecule
ApprovedDB00502HaloperidolSmall molecule
ApprovedDB00543AmoxapineSmall molecule
ApprovedDB00589LisurideSmall molecule
Approved|investigationalDB00714ApomorphineSmall molecule
Approved|investigationalDB00734RisperidoneSmall molecule
ApprovedDB00988DopamineSmall molecule
ApprovedDB01100PimozideSmall molecule
Approved|investigational|vet_approvedDB01184DomperidoneSmall molecule
Approved|vet_approved|withdrawnDB01186PergolideSmall molecule
Approved|investigationalDB01200BromocriptineSmall molecule
ApprovedDB01224QuetiapineSmall molecule
ApprovedDB01235LevodopaSmall molecule
Approved|investigationalDB01238AripiprazoleSmall molecule
Approved|withdrawnDB01239ChlorprothixeneSmall molecule
ApprovedDB01267PaliperidoneSmall molecule
Approved|vet_approvedDB01392YohimbineSmall molecule
ApprovedDB01403MethotrimeprazineSmall molecule
ApprovedDB04946IloperidoneSmall molecule
ApprovedDB05271RotigotineSmall molecule
InvestigationalDB05280SLV 308Small molecule
InvestigationalDB05766ACP-104Small molecule
ApprovedDB06016CariprazineSmall molecule
ApprovedDB06148MianserinSmall molecule
ApprovedDB06216AsenapineSmall molecule
Approved|investigationalDB06288AmisulprideSmall molecule
Approved|investigationalDB09014CaptodiameSmall molecule
ExperimentalDB09207AS-8112Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DRD3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ETQ3-CHLORO-5-ETHYL-N-{[(2S)-1-ETHYLPYRROLIDIN-2-YL]METHYL}-6-HYDROXY-2-METHOXYBENZAMIDE3pblBF106 D110 C114 V189 H349


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Conservation information for LBS of DRD3
Multiple alignments for P35462 in multiple species
LBSAA sequence# speciesSpecies
C114LDVMMCTASIL4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
D110VFVTLDVMMCT4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
F106ICCDVFVTLDV4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
F345VCWLPFFLTHV4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
F346CWLPFFLTHVL4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
H349PFFLTHVLNTH4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
I183PTVCSISNPDF2Homo sapiens, Pan troglodytes
I183PSICSISNPDF2Mus musculus, Rattus norvegicus
S192DFVIYSSVVSF4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
T369LYSATTWLGYV2Homo sapiens, Pan troglodytes
T369LYRATTWLGYV2Mus musculus, Rattus norvegicus
V111FVTLDVMMCTA4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
V189SNPDFVIYSSV4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
W342AFIVCWLPFFL4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus
Y373TTWLGYVNSAL4Homo sapiens, Pan troglodytes, Mus musculus, Rattus norvegicus


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