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; AllianceGenome:HGNC:3023
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
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Genomic context

Location:: 11q23.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (113409605..113475398, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (113420107..113485882, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (113280327..113346120, 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 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?

Exploring the influence of the DRD2 gene on mathematical ability: perspectives of gene association and gene-environment interaction.
Title: Exploring the influence of the DRD2 gene on mathematical ability: perspectives of gene association and gene-environment interaction.
Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
Title: Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
A shared spatial topography links the functional connectome correlates of cocaine use disorder and dopamine D2/3 receptor densities.
Title: A shared spatial topography links the functional connectome correlates of cocaine use disorder and dopamine D(2/3) receptor densities.
Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.
Title: Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.
DRD2 activation inhibits choroidal neovascularization in patients with Parkinson's disease and age-related macular degeneration.
Title: DRD2 activation inhibits choroidal neovascularization in patients with Parkinson's disease and age-related macular degeneration.
Receptor density influences ligand-induced dopamine D2L receptor homodimerization.
Title: Receptor density influences ligand-induced dopamine D(2L) receptor homodimerization.
The influence of hippocampal dopamine D2 receptor losses on episodic-memory decline across 5 years is moderated by BDNF and KIBRA polymorphisms.
Title: The influence of hippocampal dopamine D2 receptor losses on episodic-memory decline across 5 years is moderated by BDNF and KIBRA polymorphisms.
DRD2 TaqIA polymorphism-related functional connectivity between anterior insula and dorsolateral prefrontal cortex predicts the retention time in heroin-dependent individuals under methadone maintenance treatment.
Title: DRD2 TaqIA polymorphism-related functional connectivity between anterior insula and dorsolateral prefrontal cortex predicts the retention time in heroin-dependent individuals under methadone maintenance treatment.
Subcutaneous adipose tissue dopamine D2 receptor is increased in prediabetes and T2D.
Title: Subcutaneous adipose tissue dopamine D2 receptor is increased in prediabetes and T2D.
Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.
Title: Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.

Submit: New GeneRIF Correction See all GeneRIFs (987)

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

EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein alpha-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables dopamine binding	IEA Inferred from Electronic Annotation more info
enables dopamine neurotransmitter receptor activity, coupled via Gi/Go	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA Inferred from Direct Assay more info	PubMed
enables heterocyclic compound binding	IEA Inferred from Electronic Annotation more info
enables heterotrimeric G-protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables potassium channel regulator activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in acid secretion	IEA Inferred from Electronic Annotation more info
involved_in adenohypophysis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adult walking behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in arachidonate secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in associative learning	ISS Inferred from Sequence or Structural Similarity more info
involved_in auditory behavior	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in behavioral response to cocaine	ISS Inferred from Sequence or Structural Similarity more info
involved_in behavioral response to ethanol	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching morphogenesis of a nerve	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex GABAergic interneuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in dopamine metabolic process	IC Inferred by Curator more info	PubMed
involved_in dopamine uptake involved in synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in drinking behavior	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in excitatory postsynaptic potential	NAS Non-traceable Author Statement more info	PubMed
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in hyaloid vascular plexus regression	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of circadian sleep/wake cycle, sleep	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
involved_in nervous system process involved in regulation of systemic arterial blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron-neuron synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in orbitofrontal cortex development	IEA Inferred from Electronic Annotation more info
involved_in peristalsis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phospholipase C-activating dopamine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in pigmentation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dopamine uptake involved in synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of glial cell-derived neurotrophic factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of growth hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of urine volume	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in prepulse inhibition	ISS Inferred from Sequence or Structural Similarity more info
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dopamine secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dopamine uptake involved in synaptic transmission	IC Inferred by Curator more info	PubMed
involved_in regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in regulation of long-term neuronal synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of potassium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse structural plasticity	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to amphetamine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to cocaine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to histamine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to inactivity	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	IEA Inferred from Electronic Annotation more info
involved_in response to light stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to morphine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of smell	ISS Inferred from Sequence or Structural Similarity more info
involved_in striatum development	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of G protein-coupled receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in dopaminergic synapse	IEA Inferred from Electronic Annotation more info
located_in endocytic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm flagellum	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D(2) dopamine receptor

Names: dopamine D2 receptor; 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

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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, Q9NZR3, Q9UPA9

UniProtKB/TrEMBL

F8VUV1

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_016574.4 → NP_057658.2 D(2) dopamine receptor isoform short

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)

AP002840, BC021195, BF437994, DA693976, S69899, X51362

Consensus CDS

CCDS8362.1

UniProtKB/TrEMBL

B5BUP4

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

113409605..113475398 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017296.3 → XP_016872785.1 D(2) dopamine receptor isoform X1

UniProtKB/Swiss-Prot

P14416, Q9NZR3, Q9UPA9

UniProtKB/TrEMBL

F8VUV1

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
XM_047426511.1 → XP_047282467.1 D(2) dopamine receptor isoform X2