Human Gene DRD2 (ENST00000362072.8_13) from GENCODE V47lift37
  Description: dopamine receptor D2, transcript variant 1 (from RefSeq NM_000795.4)
Gencode Transcript: ENST00000362072.8_13
Gencode Gene: ENSG00000149295.14_16
Transcript (Including UTRs)
   Position: hg19 chr11:113,280,327-113,346,120 Size: 65,794 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr11:113,281,449-113,295,373 Size: 13,925 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:113,280,327-113,346,120)mRNA (may differ from genome)Protein (443 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DRD2_HUMAN
DESCRIPTION: RecName: Full=D(2) dopamine receptor; AltName: Full=Dopamine D2 receptor;
FUNCTION: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (By similarity).
SUBUNIT: Forms homo- and heterooligomers with DRD4. The interaction with DRD4 may modulate agonist-induced downstream signaling. Interacts with GPRASP1, PPP1R9B and CLIC6 (By similarity). Interacts with CADPS and CADPS2. Interacts with ARRB2 (By similarity). Interacts with GNAI1. Interacts with GNAI2 isoform sGi2, the interaction allows the creation of an intracellular pool of DRD2 that can be released to cell surface upon agonist stimulation.
INTERACTION: P29274:ADORA2A; NbExp=2; IntAct=EBI-2928178, EBI-2902702;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
POLYMORPHISM: Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism [MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.
DISEASE: Defects in DRD2 are associated with dystonia type 11 (DYT11) [MIM:159900]; also known as alcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DRD2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DRD2
Diseases sorted by gene-association score: dystonia-11, myoclonic* (58), cocaine dependence (32), drug addiction (28), substance abuse (25), substance dependence (24), delusional disorder (23), bruxism (23), drug dependence (22), antisocial personality disorder (22), hemiparkinsonism-hemiatrophy syndrome (18), schizoaffective disorder (18), heroin dependence (18), pathological gambling (18), hyperprolactinemia (16), cocaine abuse (16), gastroparesis (15), alcohol dependence (14), restless legs syndrome (14), post-traumatic stress disorder (14), neuroleptic malignant syndrome (13), alcohol abuse (13), gilles de la tourette syndrome (13), striatonigral degeneration (12), schizophreniform disorder (12), periodic limb movement disorder (11), schizophrenia (11), conduct disorder (11), pituitary adenoma, prolactin-secreting (10), alexithymia (10), mood disorder (10), stuttering (10), tardive dyskinesia (10), psychotic disorder (10), personality disorder (10), nicotine dependence, protection against (9), social phobia (9), early-onset schizophrenia (9), focal dystonia (9), opiate dependence (8), migraine with aura (8), prolactin producing pituitary tumor (8), multiple system atrophy (8), obsessive-compulsive disorder (7), alcohol-induced mental disorder (7), oppositional defiant disorder (7), tic disorder (7), disease of mental health (7), migraine with or without aura 1 (7), anxiety disorder (7), attention deficit-hyperactivity disorder (7), parkinson disease, late-onset (6), movement disease (6), eating disorder (6), impulse control disorder (6), generalized anxiety disorder (6), alcoholic psychosis (6), peripartum cardiomyopathy (6), amelanotic melanoma (6), wilson disease (6), traumatic brain injury (5), brain injury (5), opioid abuse (5), articulation disorder (5), functioning pituitary adenoma (5), bipolar disorder (4), megacolon (4), drug-induced mental disorder (4), drug psychosis (4), dystonia (4), pituitary adenoma, acth-secreting (4), narcolepsy (2), autism spectrum disorder (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.97 RPKM in Pituitary
Total median expression: 154.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -199.10354-0.562 Picture PostScript Text
3' UTR -454.601122-0.405 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR001922 - Dopa_D2_rcpt
IPR000929 - Dopamine_rcpt
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF10320 - Serpentine type 7TM GPCR chemoreceptor Srsx

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1I15 - Model


ModBase Predicted Comparative 3D Structure on P14416
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001591 dopamine neurotransmitter receptor activity, coupled via Gi/Go
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004952 dopamine neurotransmitter receptor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008144 drug binding
GO:0015459 potassium channel regulator activity
GO:0035240 dopamine binding
GO:0035255 ionotropic glutamate receptor binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0004935 adrenergic receptor activity

Biological Process:
GO:0001659 temperature homeostasis
GO:0001666 response to hypoxia
GO:0001933 negative regulation of protein phosphorylation
GO:0001963 synaptic transmission, dopaminergic
GO:0001964 startle response
GO:0001975 response to amphetamine
GO:0001976 neurological system process involved in regulation of systemic arterial blood pressure
GO:0002027 regulation of heart rate
GO:0002028 regulation of sodium ion transport
GO:0002031 G-protein coupled receptor internalization
GO:0002052 positive regulation of neuroblast proliferation
GO:0002092 positive regulation of receptor internalization
GO:0006874 cellular calcium ion homeostasis
GO:0006914 autophagy
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007194 negative regulation of adenylate cyclase activity
GO:0007195 adenylate cyclase-inhibiting dopamine receptor signaling pathway
GO:0007212 dopamine receptor signaling pathway
GO:0007270 neuron-neuron synaptic transmission
GO:0007409 axonogenesis
GO:0007416 synapse assembly
GO:0007608 sensory perception of smell
GO:0007616 long-term memory
GO:0007625 grooming behavior
GO:0007626 locomotory behavior
GO:0007628 adult walking behavior
GO:0007631 feeding behavior
GO:0008104 protein localization
GO:0008285 negative regulation of cell proliferation
GO:0008306 associative learning
GO:0008542 visual learning
GO:0009416 response to light stimulus
GO:0009636 response to toxic substance
GO:0010039 response to iron ion
GO:0014059 regulation of dopamine secretion
GO:0014854 response to inactivity
GO:0016055 Wnt signaling pathway
GO:0021756 striatum development
GO:0021769 orbitofrontal cortex development
GO:0021853 cerebral cortex GABAergic interneuron migration
GO:0021984 adenohypophysis development
GO:0030336 negative regulation of cell migration
GO:0030432 peristalsis
GO:0030534 adult behavior
GO:0030900 forebrain development
GO:0031223 auditory behavior
GO:0032147 activation of protein kinase activity
GO:0032228 regulation of synaptic transmission, GABAergic
GO:0032467 positive regulation of cytokinesis
GO:0032922 circadian regulation of gene expression
GO:0033602 negative regulation of dopamine secretion
GO:0034776 response to histamine
GO:0035094 response to nicotine
GO:0035556 intracellular signal transduction
GO:0035810 positive regulation of urine volume
GO:0035815 positive regulation of renal sodium excretion
GO:0040018 positive regulation of multicellular organism growth
GO:0042220 response to cocaine
GO:0042321 negative regulation of circadian sleep/wake cycle, sleep
GO:0042417 dopamine metabolic process
GO:0042493 response to drug
GO:0042756 drinking behavior
GO:0043266 regulation of potassium ion transport
GO:0043278 response to morphine
GO:0043408 regulation of MAPK cascade
GO:0043473 pigmentation
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0045471 response to ethanol
GO:0045745 positive regulation of G-protein coupled receptor protein signaling pathway
GO:0045776 negative regulation of blood pressure
GO:0045824 negative regulation of innate immune response
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046676 negative regulation of insulin secretion
GO:0046717 acid secretion
GO:0048148 behavioral response to cocaine
GO:0048149 behavioral response to ethanol
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048678 response to axon injury
GO:0048755 branching morphogenesis of a nerve
GO:0050482 arachidonic acid secretion
GO:0050709 negative regulation of protein secretion
GO:0050769 positive regulation of neurogenesis
GO:0050804 modulation of synaptic transmission
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051481 negative regulation of cytosolic calcium ion concentration
GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway
GO:0051584 regulation of dopamine uptake involved in synaptic transmission
GO:0051586 positive regulation of dopamine uptake involved in synaptic transmission
GO:0051823 regulation of synapse structural plasticity
GO:0051898 negative regulation of protein kinase B signaling
GO:0051967 negative regulation of synaptic transmission, glutamatergic
GO:0060079 excitatory postsynaptic potential
GO:0060124 positive regulation of growth hormone secretion
GO:0060134 prepulse inhibition
GO:0060158 phospholipase C-activating dopamine receptor signaling pathway
GO:0060160 negative regulation of dopamine receptor signaling pathway
GO:0060548 negative regulation of cell death
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0090325 regulation of locomotion involved in locomotory behavior
GO:1900168 positive regulation of glial cell-derived neurotrophic factor secretion
GO:1900273 positive regulation of long-term synaptic potentiation
GO:1901386 negative regulation of voltage-gated calcium channel activity
GO:0071880 adenylate cyclase-activating adrenergic receptor signaling pathway

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0030139 endocytic vesicle
GO:0030424 axon
GO:0030425 dendrite
GO:0030672 synaptic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0036126 sperm flagellum
GO:0043197 dendritic spine
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0060170 ciliary membrane
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  X51362 - Human mRNA for dopamine D2 receptor.
M29066 - Human dopamine D2 receptor (DRD2) mRNA, complete cds.
S69899 - D2 dopamine receptor [human, retina, mRNA, 2474 nt].
BC021195 - Homo sapiens dopamine receptor D2, mRNA (cDNA clone MGC:10521 IMAGE:3939741), complete cds.
AB209832 - Homo sapiens mRNA for dopamine receptor D2 isoform long variant protein.
JD214587 - Sequence 195611 from Patent EP1572962.
JD134215 - Sequence 115239 from Patent EP1572962.
JD392523 - Sequence 373547 from Patent EP1572962.
JD159322 - Sequence 140346 from Patent EP1572962.
JD159502 - Sequence 140526 from Patent EP1572962.
JD256270 - Sequence 237294 from Patent EP1572962.
JD418772 - Sequence 399796 from Patent EP1572962.
JD132839 - Sequence 113863 from Patent EP1572962.
JD403792 - Sequence 384816 from Patent EP1572962.
JD524226 - Sequence 505250 from Patent EP1572962.
JD344609 - Sequence 325633 from Patent EP1572962.
S62137 - D2 dopamine receptor [human, mRNA, 2460 nt].
JD105983 - Sequence 87007 from Patent EP1572962.
JD412945 - Sequence 393969 from Patent EP1572962.
JD524406 - Sequence 505430 from Patent EP1572962.
JD265018 - Sequence 246042 from Patent EP1572962.
JD325264 - Sequence 306288 from Patent EP1572962.
JD356096 - Sequence 337120 from Patent EP1572962.
JD128290 - Sequence 109314 from Patent EP1572962.
JD365703 - Sequence 346727 from Patent EP1572962.
JD464458 - Sequence 445482 from Patent EP1572962.
JD375276 - Sequence 356300 from Patent EP1572962.
JD178877 - Sequence 159901 from Patent EP1572962.
JD142600 - Sequence 123624 from Patent EP1572962.
JD560865 - Sequence 541889 from Patent EP1572962.
JD465865 - Sequence 446889 from Patent EP1572962.
JD323480 - Sequence 304504 from Patent EP1572962.
JD173203 - Sequence 154227 from Patent EP1572962.
JD463581 - Sequence 444605 from Patent EP1572962.
JD383634 - Sequence 364658 from Patent EP1572962.
JD157389 - Sequence 138413 from Patent EP1572962.
X51645 - Homo sapiens mRNA for dopamine receptor D2 (DRD2 gene).
JD549886 - Sequence 530910 from Patent EP1572962.
AF176812 - Homo sapiens dopamine receptor D2longer mRNA, complete cds.
JD287326 - Sequence 268350 from Patent EP1572962.
JD496830 - Sequence 477854 from Patent EP1572962.
JD068554 - Sequence 49578 from Patent EP1572962.
M30625 - Human dopamine D2 receptor, mRNA, complete cds.
JD149035 - Sequence 130059 from Patent EP1572962.
JD308852 - Sequence 289876 from Patent EP1572962.
JD402487 - Sequence 383511 from Patent EP1572962.
KJ891069 - Synthetic construct Homo sapiens clone ccsbBroadEn_00463 DRD2 gene, encodes complete protein.
KR710313 - Synthetic construct Homo sapiens clone CCSBHm_00011460 DRD2 (DRD2) mRNA, encodes complete protein.
KR710314 - Synthetic construct Homo sapiens clone CCSBHm_00011461 DRD2 (DRD2) mRNA, encodes complete protein.
KR710315 - Synthetic construct Homo sapiens clone CCSBHm_00011462 DRD2 (DRD2) mRNA, encodes complete protein.
KR710316 - Synthetic construct Homo sapiens clone CCSBHm_00011463 DRD2 (DRD2) mRNA, encodes complete protein.
DQ891920 - Synthetic construct clone IMAGE:100004550; FLH181421.01X; RZPDo839D03136D dopamine receptor D2 (DRD2) gene, encodes complete protein.
DQ895104 - Synthetic construct Homo sapiens clone IMAGE:100009564; FLH181417.01L; RZPDo839D03135D dopamine receptor D2 (DRD2) gene, encodes complete protein.
AB385097 - Synthetic construct DNA, clone: pF1KB5438, Homo sapiens DRD2 gene for D(2) dopamine receptor, complete cds, without stop codon, in Flexi system.
AB451480 - Homo sapiens DRD2 mRNA for dopamine receptor D2 isoform short, partial cds, clone: FLJ80354SAAF.
AK308777 - Homo sapiens cDNA, FLJ98818.
JD104903 - Sequence 85927 from Patent EP1572962.
JD191218 - Sequence 172242 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ck1Pathway - Regulation of ck1/cdk5 by type 1 glutamate receptors

Reactome (by CSHL, EBI, and GO)

Protein P14416 (Reactome details) participates in the following event(s):

R-HSA-390846 D2-like dopamine receptors bind to dopamine
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-390651 Dopamine receptors
R-HSA-418594 G alpha (i) signalling events
R-HSA-375280 Amine ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DRD2_HUMAN, ENST00000362072.1, ENST00000362072.2, ENST00000362072.3, ENST00000362072.4, ENST00000362072.5, ENST00000362072.6, ENST00000362072.7, NM_000795, P14416, Q9NZR3, Q9UPA9, uc318cmy.1, uc318cmy.2
UCSC ID: ENST00000362072.8_13
RefSeq Accession: NM_000795.4
Protein: P14416 (aka DRD2_HUMAN or D2DR_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.