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DRD2 dopamine receptor D2 [ Homo sapiens (human) ]

Gene ID: 1813, updated on 10-Dec-2024

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
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Genomic context

See DRD2 in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3908 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:113202304-113203503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:113214693-113215892 Neighboring gene tetratricopeptide repeat domain 12 Neighboring gene Sharpr-MPRA regulatory region 12815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5539 Neighboring gene ankyrin repeat and kinase domain containing 1 Neighboring gene uncharacterized LOC105369501 Neighboring gene microRNA 4301 Neighboring gene Sharpr-MPRA regulatory region 11387 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:113411088-113411599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:113424437-113424938 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:113448606-113449158 Neighboring gene Sharpr-MPRA regulatory region 5622 Neighboring gene uncharacterized LOC107984390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3910 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:113499391-113500389 Neighboring gene uncharacterized LOC124902758 Neighboring gene Sharpr-MPRA regulatory region 4296

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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-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 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 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

Preferred Names
D(2) dopamine receptor
Names
dopamine D2 receptor
seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_008841.1 RefSeqGene

    Range
    4882..70675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000795.4NP_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, Q9NZR3, Q9UPA9
    UniProtKB/TrEMBL
    F8VUV1
    Related
    ENSP00000354859.3, ENST00000362072.8
    Conserved Domains (1) summary
    cd15309
    Location:35437
    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
  2. NM_016574.4NP_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)
    AP002840, BC021195, BF437994, DA693976, S69899, X51362
    Consensus CDS
    CCDS8362.1
    UniProtKB/TrEMBL
    B5BUP4
    Related
    ENSP00000278597.5, ENST00000346454.7
    Conserved Domains (1) summary
    cd15309
    Location:35408
    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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    113409605..113475398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P14416, Q9NZR3, Q9UPA9
    UniProtKB/TrEMBL
    F8VUV1
    Conserved Domains (1) summary
    cd15309
    Location:35437
    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
  2. XM_047426511.1XP_047282467.1  D(2) dopamine receptor isoform X2

    UniProtKB/TrEMBL
    B5BUP4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    113420107..113485882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367935.1XP_054223910.1  D(2) dopamine receptor isoform X1

    UniProtKB/Swiss-Prot
    P14416, Q9NZR3, Q9UPA9
    UniProtKB/TrEMBL
    F8VUV1
  2. XM_054367936.1XP_054223911.1  D(2) dopamine receptor isoform X2

    UniProtKB/TrEMBL
    B5BUP4