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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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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