DRD2 dopamine receptor D2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRD2provided by HGNC
Official Full Name: dopamine receptor D2provided by HGNC
Primary source: HGNC:HGNC:3023
See related: Ensembl:ENSG00000149295 MIM:126450
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D2R; D2DR
Summary: 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]
Annotation information: Note: A frequently studied SNP, known as TaqI DRD2 (rs1800497), was originally associated with the DRD2 gene (GeneID 1813) but was later found to be located within exon 8 of the adjacent gene, ANKK1 (GeneID 255239). The location of rs1800497 is not always specified within publications. Publications may be associated with either locus or with both loci in order to point out the relationship of rs1800497 to both loci. [13 Feb 2013]
Expression: Biased expression in adrenal (RPKM 4.1), endometrium (RPKM 0.7) and 3 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 11q23.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (113409595..113475398, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (113280317..113346413, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

interactions between DRD2/ANKK1 TaqIA polymorphism and dietary factors (sugar and fats) influence triglyceride levels in diabetic patients
Title: Interactions between <i>DRD2/ANKK1</i> TaqIA Polymorphism and Dietary Factors Influence Plasma Triglyceride Concentrations in Diabetic Patients from Western Mexico: A Cross-sectional Study.
DRD2-DRD4 interaction in crack cocaine addiction.
Title: Effects of DRD2 splicing-regulatory polymorphism and DRD4 48 bp VNTR on crack cocaine addiction.
The association between the D2 dopamine receptor gene (DRD2) Taq1A locus (rs1800497) and alcohol use disorder (AUD) is enduring but the subject of long-standing controversy; meta-analysis of studies across 3 decades shows an association between rs1800497 and AUD, but genome-wide analyses have detected no role for rs1800497 in any phenotype
Title: Assessment of the Association of D2 Dopamine Receptor Gene and Reported Allele Frequencies With Alcohol Use Disorders: A Systematic Review and Meta-analysis.
The DRD2 TaqIA A1 allele is possibly the susceptibility polymorphism for persistent postural-perceptual dizziness (PPPD), and that the A2/A2 genotype has a potentially protective role for PPPD.
Title: Association between dopamine receptor D2 Taq IA gene polymorphism and persistent postural-perceptual dizziness.
This study identifies rs12364283 of DRD2 as a potential risk factor for heroin addiction in the Pakistani study population
Title: Significant association of DRD2 enhancer variant rs12364283 with heroin addiction in a Pakistani population.
rs1799732 ins/del genotype associated with increased level of anxiety in e-cigarette users
Title: Personality Traits or Genetic Determinants-Which Strongly Influences E-Cigarette Users?
findings suggest that only the DRD1 receptor system, not DRD2, seems important for dynamical adjustments of how much cognitive control is invested in a particular situation.
Title: The Role of DRD1 and DRD2 Receptors for Response Selection Under Varying Complexity Levels: Implications for Metacontrol Processes.
Study found that agonist-induced internalization of the dopamine D2 receptor (D2R) is regulated by the receptor tyrosine kinase ALK. Dopamine activated protein kinase C in an ALK-dependent manner and a PKC inhibitor blocked D2R internalization. Results indicate that ALK regulates D2R trafficking, which has implications for psychiatric disorders involving dysregulated dopamine signaling.
Title: Anaplastic Lymphoma Kinase Regulates Internalization of the Dopamine D2 Receptor.
These results implicate DRD5 as a negative regulator of DRD2 signaling and tumor sensitivity to ONC201 DRD2 antagonism.
Title: Dopamine Receptor D5 is a Modulator of Tumor Response to Dopamine Receptor D2 Antagonism.
Genetic Variation of a DRD2 Co-expression Network is Associated with Changes in Prefrontal Function After D2 Receptors Stimulation
Title: Genetic Variation of a DRD2 Co-expression Network is Associated with Changes in Prefrontal Function After D2 Receptors Stimulation.

Submit: New GeneRIF Correction See all GeneRIFs (874)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association with select biomarker traits in the Framingham Heart Study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31507 (e-PCR)
- UniSTS:56642

MARC_13871-13872:1007494510:1 (e-PCR)
- UniSTS:267588

DRD2 (e-PCR), detects polymorphism
- UniSTS:26442

DRD2 (e-PCR), detects polymorphism
- UniSTS:262987

RH11104 (e-PCR)
- UniSTS:49077

GDB:196340 (e-PCR)
- UniSTS:155832

PMC311033P6 (e-PCR)
- UniSTS:272844

DRD2 (e-PCR), detects polymorphism
- UniSTS:266487

GDB:182528 (e-PCR)
- UniSTS:155387

G10651 (e-PCR)
- UniSTS:60667

SHGC-148803 (e-PCR)
- UniSTS:173055

Homology

Homologs of the DRD2 gene: The DRD2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, C.elegans, and frog.
Orthologs from Annotation Pipeline: 320 organisms have orthologs with human gene DRD2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
dopamine neurotransmitter receptor activity, coupled via Gi/Go	IBA Inferred from Biological aspect of Ancestor more info	PubMed
dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA Inferred from Direct Assay more info	PubMed
drug binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G protein-coupled receptor internalization	IEA Inferred from Electronic Annotation more info
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
activation of protein kinase activity	IEA Inferred from Electronic Annotation more info
adenohypophysis development	ISS Inferred from Sequence or Structural Similarity more info
adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
adult walking behavior	ISS Inferred from Sequence or Structural Similarity more info
arachidonic acid secretion	IDA Inferred from Direct Assay more info	PubMed
associative learning	ISS Inferred from Sequence or Structural Similarity more info
auditory behavior	IEA Inferred from Electronic Annotation more info
autophagy	IEA Inferred from Electronic Annotation more info
axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
behavioral response to cocaine	ISS Inferred from Sequence or Structural Similarity more info
behavioral response to ethanol	ISS Inferred from Sequence or Structural Similarity more info
branching morphogenesis of a nerve	ISS Inferred from Sequence or Structural Similarity more info
cerebral cortex GABAergic interneuron migration	ISS Inferred from Sequence or Structural Similarity more info
circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
dopamine metabolic process	IC Inferred by Curator more info	PubMed
drinking behavior	IEA Inferred from Electronic Annotation more info
excitatory postsynaptic potential	NAS Non-traceable Author Statement more info	PubMed
grooming behavior	IEA Inferred from Electronic Annotation more info
hyaloid vascular plexus regression	ISS Inferred from Sequence or Structural Similarity more info
locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
long-term memory	IEA Inferred from Electronic Annotation more info
negative regulation of adenylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell death	IEA Inferred from Electronic Annotation more info
negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of circadian sleep/wake cycle, sleep	IEA Inferred from Electronic Annotation more info
negative regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
negative regulation of innate immune response	IEA Inferred from Electronic Annotation more info
negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase B signaling	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of protein kinase B signaling	NAS Non-traceable Author Statement more info	PubMed
negative regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
negative regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
negative regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
neurological system process involved in regulation of systemic arterial blood pressure	ISS Inferred from Sequence or Structural Similarity more info
neuron-neuron synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
orbitofrontal cortex development	IEA Inferred from Electronic Annotation more info
peristalsis	ISS Inferred from Sequence or Structural Similarity more info
phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phospholipase C-activating dopamine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
pigmentation	IEA Inferred from Electronic Annotation more info
positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
positive regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of dopamine uptake involved in synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of glial cell-derived neurotrophic factor secretion	IDA Inferred from Direct Assay more info	PubMed
positive regulation of growth hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
positive regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of receptor internalization	IEA Inferred from Electronic Annotation more info
positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
positive regulation of urine volume	IEA Inferred from Electronic Annotation more info
postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
prepulse inhibition	ISS Inferred from Sequence or Structural Similarity more info
protein localization	ISS Inferred from Sequence or Structural Similarity more info
regulation of dopamine secretion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of dopamine uptake involved in synaptic transmission	IC Inferred by Curator more info	PubMed
regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
regulation of locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
regulation of long-term neuronal synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
regulation of phosphoprotein phosphatase activity	IEA Inferred from Electronic Annotation more info
regulation of potassium ion transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
regulation of sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info
regulation of synapse structural plasticity	IEA Inferred from Electronic Annotation more info
regulation of synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
response to amphetamine	ISS Inferred from Sequence or Structural Similarity more info
response to axon injury	IEA Inferred from Electronic Annotation more info
response to cocaine	ISS Inferred from Sequence or Structural Similarity more info
response to drug	ISS Inferred from Sequence or Structural Similarity more info
response to histamine	IDA Inferred from Direct Assay more info	PubMed
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to inactivity	IEA Inferred from Electronic Annotation more info
response to iron ion	IEA Inferred from Electronic Annotation more info
response to light stimulus	ISS Inferred from Sequence or Structural Similarity more info
response to morphine	ISS Inferred from Sequence or Structural Similarity more info
response to nicotine	IEA Inferred from Electronic Annotation more info
sensory perception of smell	ISS Inferred from Sequence or Structural Similarity more info
striatum development	IEA Inferred from Electronic Annotation more info
synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
synaptic transmission, dopaminergic	IBA Inferred from Biological aspect of Ancestor more info	PubMed
temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info
visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
acrosomal vesicle	IEA Inferred from Electronic Annotation more info
axon	ISS Inferred from Sequence or Structural Similarity more info
axon terminus	IEA Inferred from Electronic Annotation more info
ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
cilium	IDA Inferred from Direct Assay more info	PubMed
dendrite	ISS Inferred from Sequence or Structural Similarity more info
dendritic spine	IEA Inferred from Electronic Annotation more info
dopaminergic synapse	IEA Inferred from Electronic Annotation more info
endocytic vesicle	IEA Inferred from Electronic Annotation more info
glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
integral component of postsynaptic membrane	IEA Inferred from Electronic Annotation more info
integral component of presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
lateral plasma membrane	IEA Inferred from Electronic Annotation more info
non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
perikaryon	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
sperm flagellum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D(2) dopamine receptor

Names: dopamine D2 receptor; dopamine receptor D2 isoform; seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008841.1 RefSeqGene

Range

4882..70675

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000795.4 → NP_000786.1 D(2) dopamine receptor isoform long

See identical proteins and their annotated locations for NP_000786.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (long).

Source sequence(s)

AP002840, BC021195, BF437994, DA693976, X51362

Consensus CDS

CCDS8361.1

UniProtKB/Swiss-Prot

P14416

UniProtKB/TrEMBL

A0A024R3C5

Related

ENSP00000354859.3, ENST00000362072.8

Conserved Domains (1) summary

cd15309
Location:35 → 437

7tmA_D2_dopamine_R; D2 subtype of the D2-like family of dopamine receptors, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_016574.3 → NP_057658.2 D(2) dopamine receptor isoform short

See identical proteins and their annotated locations for NP_057658.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, as compared to variant 1, but maintains the same reading frame. It encodes an isoform (short), which is 29 aa shorter than isoform long.

Source sequence(s)

BC021195, BF437994, DA693976, S69899, X51362

Consensus CDS

CCDS8362.1

UniProtKB/Swiss-Prot

P14416

UniProtKB/TrEMBL

A0A024R3I6

Related

ENSP00000278597.5, ENST00000346454.7

Conserved Domains (1) summary

cd15309
Location:35 → 408

7tmA_D2_dopamine_R; D2 subtype of the D2-like family of dopamine receptors, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p13 Primary Assembly

Range

113409595..113475398 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017296.2 → XP_016872785.1 D(2) dopamine receptor isoform X1

UniProtKB/Swiss-Prot

P14416

UniProtKB/TrEMBL

A0A024R3C5

Related

ENSP00000442172.1, ENST00000542968.5

Conserved Domains (1) summary

cd15309
Location:35 → 437

7tmA_D2_dopamine_R; D2 subtype of the D2-like family of dopamine receptors, member of the class A family of seven-transmembrane G protein-coupled receptors