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DRD2 dopamine receptor D2 [ Homo sapiens (human) ]

Gene ID: 1813, updated on 21-Jul-2014
Official Symbol
DRD2provided by HGNC
Official Full Name
dopamine receptor D2provided by HGNC
Primary source
HGNC:3023
See related
Ensembl:ENSG00000149295; HPRD:00539; MIM:126450; Vega:OTTHUMG00000167717
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]
See DRD2 in Epigenomics, MapViewer
Location:
11q23
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (113409595..113475685, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (113280317..113346413, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 12 Neighboring gene ankyrin repeat and kinase domain containing 1 Neighboring gene microRNA 4301 Neighboring gene transmembrane protease, serine 5 Neighboring gene mitochondrial translational release factor 1-like pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myoclonic dystonia
MedGen: C1834570 OMIM: 159900 GeneReviews: Myoclonus-Dystonia
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association with select biomarker traits in the Framingham Heart Study.
NHGRI GWA Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
NHGRI GWA Catalog
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dopamine binding IEA
Inferred from Electronic Annotation
more info
 
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
 
potassium channel regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G-protein coupled receptor internalization IEA
Inferred from Electronic Annotation
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-inhibiting dopamine receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-inhibiting dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
cellular calcium ion homeostasis IC
Inferred by Curator
more info
PubMed 
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 
feeding behavior IEA
Inferred from Electronic Annotation
more info
 
grooming behavior IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of adenylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
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 IEA
Inferred from Electronic Annotation
more info
 
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 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 secretion IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
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
 
phosphatidylinositol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 protein signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dopamine uptake involved in synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
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 from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of urine volume 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 cAMP metabolic process IDA
Inferred from Direct Assay
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 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
 
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
 
response to toxic substance 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 IEA
Inferred from Electronic Annotation
more info
 
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
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
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
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
 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
D(2) dopamine receptor
Names
D(2) dopamine receptor
dopamine D2 receptor
dopamine receptor D2 isoform
seven transmembrane helix receptor

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 

    Range
    5001..70685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000795.3NP_000786.1  D(2) dopamine receptor isoform long

    See proteins identical to NP_000786.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (long).
    Source sequence(s)
    BC021195, BF437994, DA693976, X51362
    Consensus CDS
    CCDS8361.1
    UniProtKB/Swiss-Prot
    P14416
    Related
    ENSP00000354859, OTTHUMP00000236613, ENST00000362072, OTTHUMT00000395834
    Conserved Domains (2) summary
    pfam00001
    Location:57426
    Blast Score: 474
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10320
    Location:49233
    Blast Score: 143
    7TM_GPCR_Srsx; Serpentine type 7TM GPCR chemoreceptor Srsx
  2. NM_016574.3NP_057658.2  D(2) dopamine receptor isoform short

    See proteins identical to 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
    Related
    ENSP00000278597, OTTHUMP00000236612, ENST00000346454, OTTHUMT00000395833
    Conserved Domains (2) summary
    pfam00001
    Location:57397
    Blast Score: 502
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10320
    Location:49233
    Blast Score: 144
    7TM_GPCR_Srsx; Serpentine type 7TM GPCR chemoreceptor Srsx

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    113409595..113475685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271425.2XP_005271482.1  

    See proteins identical to XP_005271482.1

    UniProtKB/Swiss-Prot
    P14416
    Conserved Domains (2) summary
    pfam00001
    Location:57426
    Blast Score: 474
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10320
    Location:49233
    Blast Score: 143
    7TM_GPCR_Srsx; Serpentine type 7TM GPCR chemoreceptor Srsx
  2. XM_006718774.1XP_006718837.1  

    See proteins identical to XP_006718837.1

    UniProtKB/Swiss-Prot
    P14416
    Conserved Domains (2) summary
    pfam00001
    Location:57397
    Blast Score: 502
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10320
    Location:49233
    Blast Score: 144
    7TM_GPCR_Srsx; Serpentine type 7TM GPCR chemoreceptor Srsx

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    109208766..109274420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    113163302..113228980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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