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Aliases for DRD2 Gene

Aliases for DRD2 Gene

  • Dopamine Receptor D2 2 3 5
  • Dopamine D2 Receptor 3 4
  • Seven Transmembrane Helix Receptor 3
  • Dopamine Receptor D2 Isoform 3
  • D(2) Dopamine Receptor 3
  • D2DR 3
  • D2R 3

External Ids for DRD2 Gene

Previous GeneCards Identifiers for DRD2 Gene

  • GC11M115633
  • GC11M114792
  • GC11M112817
  • GC11M112785
  • GC11M109208
  • GC11M113280

Summaries for DRD2 Gene

Entrez Gene Summary for DRD2 Gene

  • This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

GeneCards Summary for DRD2 Gene

DRD2 (Dopamine Receptor D2) is a Protein Coding gene. Diseases associated with DRD2 include Dystonia 11, Myoclonic and Cocaine Dependence. Among its related pathways are Gap junction and Monoamine GPCRs. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and identical protein binding. An important paralog of this gene is DRD3.

UniProtKB/Swiss-Prot for DRD2 Gene

  • Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase.

Tocris Summary for DRD2 Gene

  • D2 receptors are members of the dopamine receptor G-protein-coupled receptor family that also includes D1, D3, D4 and D5. They are involved in the modulation of locomotion, reward, reinforcement and memory and learning.

Gene Wiki entry for DRD2 Gene

PharmGKB "VIP" Summary for DRD2 Gene

Additional gene information for DRD2 Gene

No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for DRD2 Gene

Genomics for DRD2 Gene

GeneHancer (GH) Regulatory Elements for DRD2 Gene

Promoters and enhancers for DRD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J113475 Promoter 0.9 EPDnew 650.7 +0.3 273 0.1 SP3 SP2 REST GLIS2 ZFHX2 GLIS1 ZBTB17 EZH2 DRD2 MIR4301
GH11J113474 Enhancer 0.8 ENCODE 650.7 +1.2 1177 0.2 ELF3 RB1 KLF17 SIN3A ZSCAN9 CHAMP1 ZNF335 ZNF766 GLIS2 ZNF366 DRD2 MIR4301
GH11J113467 Promoter 0.6 EPDnew 650.4 +8.1 8131 0.1 MNT DRD2 MIR4301
GH11J113312 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.9 +161.3 161268 3.6 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 TCF12 GLIS2 ZNF207 TTC12 LOC105369499 DRD2 ENSG00000256757 ANKK1 GC11M113268
GH11J113680 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 16.3 -206.0 -205958 1.5 PKNOX1 FEZF1 ZNF335 TCF12 ZNF398 TSHZ1 ZNF488 ZNF843 ZNF592 MEF2D DRD2 LRRC37A13P TTC12 LOC105369499 TMPRSS5 MTRF1LP1 LOC105369501
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DRD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DRD2 gene promoter:
  • GR-alpha
  • GR
  • p300
  • Sp1
  • CREB

Genomic Locations for DRD2 Gene

Genomic Locations for DRD2 Gene
chr11:113,409,595-113,475,691
(GRCh38/hg38)
Size:
66,097 bases
Orientation:
Minus strand
chr11:113,280,317-113,346,413
(GRCh37/hg19)
Size:
66,097 bases
Orientation:
Minus strand

Genomic View for DRD2 Gene

Genes around DRD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRD2 Gene

Proteins for DRD2 Gene

  • Protein details for DRD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14416-DRD2_HUMAN
    Recommended name:
    D(2) dopamine receptor
    Protein Accession:
    P14416
    Secondary Accessions:
    • Q9NZR3
    • Q9UPA9

    Protein attributes for DRD2 Gene

    Size:
    443 amino acids
    Molecular mass:
    50619 Da
    Quaternary structure:
    • Forms homo- and heterooligomers with DRD4. The interaction with DRD4 may modulate agonist-induced downstream signaling. Interacts with GPRASP1, PPP1R9B and CLIC6 (By similarity). Interacts with CADPS and CADPS2. Interacts with ARRB2 (By similarity). Interacts with KCNA2 (By similarity). Interacts with GNAI2 isoform sGi2, the interaction allows the creation of an intracellular pool of DRD2 that can be released to cell surface upon agonist stimulation. Interacts with HTR2A.

    Three dimensional structures from OCA and Proteopedia for DRD2 Gene

    Alternative splice isoforms for DRD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRD2 Gene

Post-translational modifications for DRD2 Gene

  • Glycosylation at Asn23, Asn17, and posLast=55
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DRD2 Gene

Domains & Families for DRD2 Gene

Gene Families for DRD2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for DRD2 Gene

Graphical View of Domain Structure for InterPro Entry

P14416

UniProtKB/Swiss-Prot:

DRD2_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with DRD2: view

Function for DRD2 Gene

Molecular function for DRD2 Gene

UniProtKB/Swiss-Prot Function:
Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase.
GENATLAS Biochemistry:
dopamine receptor D2 (two isoforms),adenylate cyclase inhibiting,G protein coupled receptor superfamily,expressed in the basal ganglia (contradictory evidence for association of the S311C variant with schizophrenia),regulated by DNA methylation,involved in the regulation of appetite and growth hormone

Phenotypes From GWAS Catalog for DRD2 Gene

Gene Ontology (GO) - Molecular Function for DRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001591 dopamine neurotransmitter receptor activity, coupled via Gi/Go IDA 8301582
GO:0004871 obsolete signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004935 NOT adrenergic receptor activity IBA --
GO:0004952 dopamine neurotransmitter receptor activity IEA --
genes like me logo Genes that share ontologies with DRD2: view
genes like me logo Genes that share phenotypes with DRD2: view

Human Phenotype Ontology for DRD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DRD2 Gene

MGI Knock Outs for DRD2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DRD2

miRNA for DRD2 Gene

miRTarBase miRNAs that target DRD2

Clone Products

  • Addgene plasmids for DRD2
  • R&D Systems cDNA Clones for DRD2 (Dopamine D2 R/DRD2)

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DRD2 Gene

Localization for DRD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRD2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DRD2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane IDA,IEA 8413587
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DRD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRD2 Gene

Pathways & Interactions for DRD2 Gene

genes like me logo Genes that share pathways with DRD2: view

Gene Ontology (GO) - Biological Process for DRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0001666 response to hypoxia IEA --
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001963 synaptic transmission, dopaminergic IBA --
GO:0001964 startle response IEA --
genes like me logo Genes that share ontologies with DRD2: view

No data available for SIGNOR curated interactions for DRD2 Gene

Drugs & Compounds for DRD2 Gene

(295) Drugs for DRD2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amisulpride Approved, Investigational Pharma Antagonist, antagonist, Target Dopamine D2/D3 receptor antagonist 0
Aripiprazole Approved, Investigational Pharma Antagonist, Full agonist, Agonist, agonist, Target, antagonist, partial agonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 373
Clozapine Approved Pharma Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist, antagonist, Target Antipsychotic medication 121
Chlorpromazine Approved, Investigational, Vet_approved Pharma Antagonist, Inverse agonist, Channel blocker, antagonist, Target 19
Domperidone Approved, Investigational, Vet_approved Pharma Antagonist, antagonist, Target Drug for gastroparesis 51

(26) Additional Compounds for DRD2 Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cis flupentixol
Antagonist
trans flupenthixol
Antagonist
Promazine 5-sulfoxide

(3) Tocris Compounds for DRD2 Gene

Compound Action Cas Number
Aripiprazole High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 129722-12-9
B-HT 920 D2 receptor agonist. Also alpha2 agonist and 5-HT3 antagonist 36085-73-1
Sumanirole maleate D2-selective agonist 179386-44-8
genes like me logo Genes that share compounds with DRD2: view

Transcripts for DRD2 Gene

mRNA/cDNA for DRD2 Gene

Unigene Clusters for DRD2 Gene

Dopamine receptor D2:
Representative Sequences:

Clone Products

  • Addgene plasmids for DRD2
  • R&D Systems cDNA Clones for DRD2 (Dopamine D2 R/DRD2)

Alternative Splicing Database (ASD) splice patterns (SP) for DRD2 Gene

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: - - - - - -
SP6: -
SP7: - - -
SP8: -
SP9: - -
SP10:

Relevant External Links for DRD2 Gene

GeneLoc Exon Structure for
DRD2
ECgene alternative splicing isoforms for
DRD2

Expression for DRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DRD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DRD2 Gene

This gene is overexpressed in Pituitary (x12.9), Brain - Putamen (basal ganglia) (x12.2), Brain - Nucleus accumbens (basal ganglia) (x9.7), and Brain - Caudate (basal ganglia) (x7.8).

Protein differential expression in normal tissues from HIPED for DRD2 Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DRD2 Gene



Protein tissue co-expression partners for DRD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DRD2 Gene:

DRD2

SOURCE GeneReport for Unigene cluster for DRD2 Gene:

Hs.73893

Evidence on tissue expression from TISSUES for DRD2 Gene

  • Nervous system(4.7)
  • Eye(4.1)
  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DRD2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • neck
Limb:
  • digit
  • finger
  • hand
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns with DRD2: view

No data available for mRNA Expression by UniProt/SwissProt for DRD2 Gene

Orthologs for DRD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DRD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DRD2 34 33
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DRD2 34 33
  • 93.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DRD2 34 33
  • 93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Drd2 16 34 33
  • 90.82 (n)
rat
(Rattus norvegicus)
Mammalia Drd2 33
  • 90.29 (n)
oppossum
(Monodelphis domestica)
Mammalia DRD2 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DRD2 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DRD2 34 33
  • 78.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DRD2 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493063 33
  • 69.6 (n)
zebrafish
(Danio rerio)
Actinopterygii drd2b 34 33
  • 68.89 (n)
OneToMany
drd2a 34
  • 67 (a)
OneToMany
drd2l 34
  • 56 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG7431 35
  • 39 (a)
5-HT2 35
  • 37 (a)
D2R 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dop-3 34 33
  • 48.47 (n)
ManyToMany
dop-2 34
  • 17 (a)
ManyToMany
dop-6 34
  • 15 (a)
ManyToMany
C24A8.6 34
  • 12 (a)
ManyToMany
Species where no ortholog for DRD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DRD2 Gene

ENSEMBL:
Gene Tree for DRD2 (if available)
TreeFam:
Gene Tree for DRD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DRD2: view image

Paralogs for DRD2 Gene

Paralogs for DRD2 Gene

(28) SIMAP similar genes for DRD2 Gene using alignment to 4 proteins:

  • DRD2_HUMAN
  • B5BUP4_HUMAN
  • F8VUV1_HUMAN
  • Q6LDH7_HUMAN
genes like me logo Genes that share paralogs with DRD2: view

Variants for DRD2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DRD2 Gene

DRD2_HUMAN-P14416
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 of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.

Sequence variations from dbSNP and Humsavar for DRD2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894220 uncertain-significance, Myoclonic dystonia 113,416,935(-) C/T coding_sequence_variant, missense_variant
rs1076560 drug-response, cocaine response - Toxicity/ADR 113,412,966(-) C/A intron_variant
rs1799978 drug-response, risperidone response - Efficacy 113,475,629(-) T/C upstream_transcript_variant
rs1800496 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Dystonia 113,412,766(-) G/A coding_sequence_variant, missense_variant
rs1800499 benign, likely-benign, Dystonia, not specified 113,416,972(-) C/T coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DRD2 Gene

Variant ID Type Subtype PubMed ID
nsv1040152 CNV loss 25217958
nsv473342 CNV novel sequence insertion 20440878
nsv523683 CNV loss 19592680
nsv556444 CNV gain 21841781

Variation tolerance for DRD2 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRD2 Gene

Human Gene Mutation Database (HGMD)
DRD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRD2

SNP Genotyping and Copy Number Assay Products

Disorders for DRD2 Gene

MalaCards: The human disease database

(79) MalaCards diseases for DRD2 Gene - From: HGMD, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DRD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DRD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DRD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRD2 Gene

Publications for DRD2 Gene

  1. Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients. (PMID: 16867246) Wu SN … He L (Acta pharmacologica Sinica 2006) 3 22 25 44 58
  2. Response to chlorpromazine treatment may be associated with polymorphisms of the DRD2 gene in Chinese schizophrenic patients. (PMID: 15694263) Wu S … He L (Neuroscience letters 2005) 3 22 25 44 58
  3. Association of the -141C Del variant of the dopamine D2 receptor (DRD2) with positive family history and suicidality in German alcoholics. (PMID: 15389757) Johann M … Wodarz N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005) 3 4 22 44 58
  4. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (PMID: 10220438) Klein C … Ozelius LJ (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 22 44 58
  5. Genetic polymorphisms in the DRD2, DRD3, and SLC6A3 gene in elderly patients with delirium. (PMID: 19309018) van Munster BC … Korevaar JC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58

Products for DRD2 Gene

  • Addgene plasmids for DRD2

Sources for DRD2 Gene

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