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Aliases & Descriptions for DRD2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Descriptions Dopamine D2 receptor 3 dopamine receptor D2 2 dopamine receptor D2 isoform 2 seven transmembrane helix receptor 2
Search outside databases for aliases for DRD2 genePrevious GC identifers: GC11M115633 GC11M114792 GC11M113314 GC11M112817
Summaries for DRD2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for DRD2 : This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibitsadenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; othermutations have been associated with schizophrenia. Alternative splicing of this gene results intwo transcript variants encoding different isoforms. A third variant has been described, but ithas not been determined whether this form is normal or due to aberrant splicing. [provided byRefSeq] UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416 Function : This is one of the five types (D1 to D5) of receptors for dopamine. The activity of thisreceptor is mediated by G proteins which inhibit adenylyl cyclase
Gene Wiki entry for DRD2 (Dopamine_receptor_D2)
Genomic Location for DRD2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the DRD2 gene Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.2 HGNC cytogenetic band: 11q22-q23 DRD2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M112785:
(about GC identifiers )
Start:
112,785,527 bp from pter
End:
112,851,103 bp from pter
Size:
65,577 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_033899.7 Proteins for DRD2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416 (See
protein sequence )Recommended Name: D(2) dopamine receptor Size : 443 amino acids; 50619 Da
Subunit : Interacts with GPRASP1, PPP1R9B and CLIC6 (By similarity). Interacts with CADPS and CADPS2
Subcellular location : Cell membrane; Multi-pass membrane protein
PDB structure from and Proteopedia : 1I15 (3D)
 2HLB (3D)
 
Secondary accessions : Q9NZR3 Q9UPA9Alternative splicing : 3 isoforms : P14416-1 P14416-2 P14416-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000786.1 NP_057658.2 ENSEMBL proteins: ENSP00000347474 ENSP00000354859 ENSP00000278597 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for DRD2: Assays for DRD2:
Protein
Domains/ Families for DRD2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P14416 ProtoNet protein and cluster: P14416
2 Blocks protein families : IPB000929 Dopamine receptor signature IPB001922 Dopamine D2 receptor signature UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416 Similarity : Belongs to the G-protein coupled receptor 1 family
Gene Function for DRD2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_016574 Applied Biosystems Silencer ® siRNAs for DRD2 Sigma-Aldrich siRNA and siRNA Panels for DRD2 Sigma-Aldrich shRNA Panels and shRNA for DRD2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000795                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000795                                  untagged cDNA clones in CMV expression vector (see all 3 ): BC021195  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: BC021195 UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416 Function : This is one of the five types (D1 to D5) of receptors for dopamine. The activity of thisreceptor is mediated by G proteins which inhibit adenylyl cyclase
Genatlas biochemistry entry for DRD2 :dopamine receptor D2 (two isoforms),adenylate cyclase inhibiting,G protein coupled receptorsuperfamily,expressed in the basal ganglia (contradictory evidence for association of the S311Cvariant with schizophrenia),regulated by DNA methylation,involved in the regulation of appetiteand growth hormone
12 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Drd2) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for DRD2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for DRD2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for DRD2 5/44 Interacting proteins for DRD2 (P14416 2 ENSP00000347474 3 ) via UniProtKB, MINT, and/or STRING (see all 44
)About this table 5/49 Gene Ontology (GO) biological process terms (links to tree view) (see all 49
):
GO ID Qualified GO term Evidence PubMed IDs GO:0001659 temperature homeostasis
ISS -- GO:0001975 response to amphetamine
ISS -- GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure
ISS -- GO:0002027 regulation of heart rate
ISS -- GO:0002028 regulation of sodium ion transport
ISS --
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Drugs & Compounds for DRD2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for DRD2
Compounds for DRD2 available from Tocris Bioscience About this table 7 Novoseek chemical compound relationships for DRD2 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
(11c)-n-methylspiperone
81.27
14
10647606 (3), 7909948 (2), 17413189 (1), 9226735 (1) (see all 9 )
2'-iodospiperone
80.19
9
8534585 (3), 7790943 (3), 1399682 (1)
epidepride
78.09
6
8970508 (2), 10473189 (2), 9374338 (1), 8278896 (1)
benzamide
75.78
18
8804920 (2), 1358662 (2), 2144583 (1), 9873388 (1) (see all 15 )
fesp
70.55
2
8341311 (1), 8828616 (1)
bifeprunox
61.56
3
16554049 (3)
mp-11
52.28
1
9015795 (1)
About this table 2 PharmGKB drug compound relationships for DRD2 gene About this table
Transcripts for DRD2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_016574 Sigma-Aldrich siRNA and siRNA Panels for DRD2 Sigma-Aldrich shRNA Panels and shRNA for DRD2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000795 NM_016574
REFSEQ mRNAs for DRD2 gene (2 alternative transcripts): NM_000795.3 NM_016574.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000795 NM_016574
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000795                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000795                                  untagged cDNA clones in CMV expression vector (see all 3 ): BC021195  
Additional cDNA sequence: AB209832.1 AB451480.1 AF176812.1 AK308777.1 BC021195.2 M29066.1 M30625.1 S62137.1 S69899.1 X51362.1 X51645.1
5 DOTS entries : DT.91757826 DT.99961527 DT.97836669 DT.91757824 DT.100775079
24/34 AceView cDNA sequences (see all 34
):BE795107 BC021195 NM_000795 NM_016574 BV203633 BM931977 BX283073 BE798784 BE266564 BM685017 AI732883 BG827135 M29066 BF311583 BF311952 AI369867 AF176812 X51645 BQ879192 BQ719305 AA316796 BI195997 BM711919 M30625
highest scoring ESTs for DRD2 :X51362 AI692402 AI693287 AI820631 AW139137 BC021195 BF437994 M30625 S69899 AA316796
Unigene Cluster for DRD2: Dopamine receptor D2 Hs.73893 [show with all ESTs ] Unigene Representative Sequence: NM_000795 GeneLoc Exon Structure 5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DRD2 (see all 10
) ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d SP1 :         -   -   -                         -             SP2 :                     -                 -             SP3 :                                                 SP4 :         -   -   -                       -   -             SP5 :   -   -   -   -   -   -                                    
About this scheme ECgene alternative splicing isoforms for DRD2 3 Ensembl transcripts including schematic representations : ENST00000355319
ENST00000362072
ENST00000346454
Expression for DRD2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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DRD2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for DRD2 1 / 2 / 3
9 probe-sets matching DRD2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CACCAAACTASOURCE GeneReport for Unigene cluster: Hs.73893 Expression variation in blood from EXPOLDB for DRD2
Orthologs for DRD2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for DRD2 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for DRD2 ENSEMBL Gene Tree for DRD2 Paralogs for DRD2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for DRD2 gene DRD4 2 DRD3 2
SNPs/Variants for DRD2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416 Polymorphism : Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism[MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development ofwithdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholicswith a paternal and grandpaternal history of alcoholism and might contribute to suicide risk inalcoholics
HapMap Linkage Disequilibrium images for DRD2 (up to first 250kb)
Disorders & Mutations for DRD2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 126450 disorders : 159900 UniProtKB/Swiss-Prot: DRD2_HUMAN, P14416
It has been suggested that DRD2 is involved in psychiatric disorders; especially inschizophrenia Defects in DRD2 are associated with dystonia type 11 (DYT11) [MIM:159900]; also known asalcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence ofsustained involuntary muscle contractions, often leading to abnormal postures. DYT11 ischaracterized by involuntary lightning jerks and dystonic movements and postures alleviated byalcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement,presence of myoclonus and response to alcohol are all variable
10/92 Novoseek disease relationships for DRD2 gene (see all 92
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
schizophrenia
83.62
308
2069495 (6), 8439241 (5), 17207969 (4), 9351493 (4) (see all 99 )
alcoholism
76.81
275
10235293 (6), 11236830 (5), 8871803 (5), 17850642 (5) (see all 99 )
parkinson disease
72.95
98
10647606 (4), 10990520 (4), 8489408 (3), 8543941 (3) (see all 62 )
prolactinoma
68.15
19
7907340 (2), 12552124 (2), 7641411 (1), 12972179 (1) (see all 14 )
parkinsonism
66.12
20
9452320 (1), 8534585 (1), 11993184 (1), 10416511 (1) (see all 20 )
catalepsy
62.52
9
1975782 (1), 1358127 (1), 7901761 (1), 10958084 (1) (see all 8 )
extrapyramidal syndrome
62.43
7
9949416 (2), 11606886 (1), 8103229 (1), 16867246 (1)
psychotic
60.92
17
10208638 (1), 11765615 (1), 15952869 (1), 7771917 (1) (see all 17 )
hyperprolactinemia
60.54
15
16169407 (5), 19339912 (3), 12704865 (1), 17285098 (1) (see all 8 )
schizoaffective disorder
59.59
2
8439241 (1), 18786813 (1)
About this table 1 PharmGKB disease relationship for DRD2 gene
Disease
PharmGKB Relations
PubMed IDs for articles supporting these relationships
Parkinson's GN  20201778
About this table GeneTests: DRD2 Myoclonus-Dystonia Human Gene Mutation Database : DRD2 Genetic Association Database: DRD2 Human Genome Epidemiology Navigator: DRD2 (635 documents)
Medical News for DRD2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for DRD2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1219 PubMed articles for DRD2 gene (see all 1219
): Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (PubMed id 10220438) 1, 3, 4, 6 Klein C.... Ozelius L.J. (1999) Possible interaction of alcohol dehydrogenase and aldehyde dehydrogenase genes with the dopamine D2 receptor gene in anxiety-depressive alcohol dependence. (PubMed id 15084894) 1, 3, 6 Huang S.Y....Lu R.B. (2004) Dopamine D2 receptor gene (DRD2) is associated with alcoholism with conduct disorder. (PubMed id 11236830) 1, 3, 6 Lu R.B....Lin W.W. (2001) Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients. (PubMed id 11343878) 1, 3, 6 Dubertret C....Ades J. (2001) Association of the -141C Del variant of the dopamine D2 receptor (DRD2) with positive family history and suicidality in German alcoholics. (PubMed id 15389757) 1, 3, 4 Johann M.... Wodarz N. (2005) Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders. (PubMed id 11857579) 1, 3, 6 Massat I....Mendlewicz J. (2002) A structural polymorphism of human dopamine D2 receptor, D2(Ser311->Cys). (PubMed id 7902708) 1, 3, 4 Itokawa M.... Toru M. (1993) Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association study with repeated assessment. (PubMed id 15383158) 1, 3, 6 Lattuada E....Smeraldi E. (2004) L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism. (PubMed id 12796525) 1, 3, 6 Kaiser R....Brockmoller J. (2003) Dopamine receptor D2 and D3 gene variants are not associated with the antidepressant effect of total sleep deprivation in bipolar depression. (PubMed id 12834818) 1, 3, 6 Benedetti F....Smeraldi E. (2003)
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Genome Databases showing DRD2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing DRD2
(According to HUGE )
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Specialized Databases showing DRD2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=DRD2
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-- Services for DRD2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for DRD2:
Tocris compounds for DRD2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009