DRD2 (dopamine receptor D2) - Rat Genome Database

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Gene: DRD2 (dopamine receptor D2) Homo sapiens
Analyze
Symbol: DRD2
Name: dopamine receptor D2
RGD ID: 736796
HGNC Page HGNC:3023
Description: Enables several functions, including G-protein alpha-subunit binding activity; dopamine neurotransmitter receptor activity, coupled via Gi/Go; and heterotrimeric G-protein binding activity. Involved in several processes, including G protein-coupled receptor signaling pathway; arachidonate secretion; and positive regulation of glial cell-derived neurotrophic factor production. Acts upstream of or within phospholipase C-activating dopamine receptor signaling pathway. Located in ciliary membrane and non-motile cilium. Part of G protein-coupled receptor complex. Implicated in several diseases, including alcohol dependence; drug dependence (multiple); end stage renal disease; nicotine dependence; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D(2) dopamine receptor; D2DR; D2R; dopamine D2 receptor; dopamine receptor 2; dopamine receptor D2 isoform; seven transmembrane helix receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   SCL20_H  
Candidate Gene For: BW298_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI 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]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811113,409,605 - 113,475,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11113,409,605 - 113,475,691 (-)Ensemblhg38GRCh38
GRCh3711113,280,327 - 113,346,120 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611112,785,527 - 112,851,091 (-)NCBIBuild 36Build 36hg18NCBI36
Build 3411112,785,527 - 112,851,103NCBI
Celera11110,433,249 - 110,498,937 (-)NCBICelera
Cytogenetic Map11q23.2NCBI
HuRef11109,208,766 - 109,274,420 (-)NCBIHuRef
CHM1_111113,163,302 - 113,228,980 (-)NCBICHM1_1
T2T-CHM13v2.011113,420,107 - 113,485,882 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
alcohol dependence  (IAGP,ISO)
alcohol use disorder  (IEA)
Alcohol Withdrawal Seizures  (IAGP)
alcohol-induced mental disorder  (IAGP)
Alcoholic Intoxication  (ISO)
Alzheimer's disease  (IEP)
amphetamine abuse  (EXP)
anxiety disorder  (EXP,IAGP)
attention deficit hyperactivity disorder  (EXP)
basal ganglia disease  (EXP)
Binge Drinking  (ISO)
Binge-Eating Disorder  (ISO)
Bradycardia  (EXP)
Brain Concussion  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Catalepsy  (EXP)
chromosome 11 partial duplication syndrome  (IAGP)
cocaine dependence  (IAGP,ISO)
Cocaine-Related Disorders  (EXP,ISO)
cognitive disorder  (EXP)
dementia  (ISO)
depressive disorder  (IAGP,ISO)
Developmental Disabilities  (EXP)
drug psychosis  (ISO)
Drug-Induced Dyskinesia  (EXP,ISO)
Dyskinesias  (EXP)
dystonia  (IAGP)
end stage renal disease  (IAGP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
fetal alcohol spectrum disorder  (ISO)
Gilles de la Tourette syndrome  (ISO)
heroin dependence  (EXP,IAGP,ISO)
Huntington's disease  (ISO)
Hyperkinesis  (EXP)
hyperprolactinemia  (EXP,ISO)
hypertension  (EXP,IAGP)
Hypotension  (EXP)
impulse control disorder  (EXP)
intellectual disability  (IAGP)
Language Development Disorders  (IAGP)
language disorder  (EXP)
Memory Disorders  (EXP)
migraine with aura  (IAGP)
morphine dependence  (ISO)
movement disease  (EXP,IAGP)
myoclonic dystonia 11  (IAGP)
Neuralgia  (ISO)
nicotine dependence  (EXP,IAGP)
obesity  (IAGP,ISO)
opiate dependence  (IAGP)
ovarian hyperstimulation syndrome  (ISO)
Pain  (EXP)
Parkinson's disease  (EXP,ISO,ISS)
Parkinsonism  (EXP,ISO)
Pituitary Neoplasms  (EXP)
primary hyperaldosteronism  (ISS)
schizophrenia  (EXP,IAGP,IEP)
stress-related disorder  (ISO)
substance-related disorder  (EXP)
Tachycardia  (EXP,ISO)
toxic encephalopathy  (ISO)
traumatic brain injury  (ISO)
type 2 diabetes mellitus  (IAGP)
Weight Gain  (EXP)
withdrawal disorder  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-butaclamol  (ISO)
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin  (EXP)
(R)-lipoic acid  (EXP)
(R)-noradrenaline  (EXP,ISO)
(R,R)-tramadol  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-bromopropane  (ISO)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-[4-(1,3-benzodioxol-5-ylmethyl)-1-piperazinyl]pyrimidine  (EXP,ISO)
3',5'-cyclic AMP  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dichloro-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2-hydroxy-6-methoxybenzamide  (EXP,ISO)
3-bromo-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2,6-dimethoxybenzamide  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-methoxy-N-[(1-prop-2-enyl-2-pyrrolidinyl)methyl]-2H-benzotriazole-5-carboxamide  (ISO)
8-(3-chlorostyryl)caffeine  (ISO)
acamprosate  (EXP)
aflatoxin B1  (EXP,ISO)
albiflorin  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amisulpride  (ISO)
amitraz  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
amoxapine  (ISO)
amphetamine  (EXP,ISO)
antimycin A  (EXP)
apigenin  (ISO)
apomorphine  (ISO)
aprindine  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
aripiprazole  (EXP,ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
Atractylone  (EXP)
atrazine  (ISO)
azoxystrobin  (EXP)
Bardoxolone methyl  (EXP)
barium(0)  (ISO)
Bay-K-8644  (ISO)
benserazide  (ISO)
benzamides  (ISO)
benzimidazoles  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bromocriptine  (EXP,ISO)
Bromperidol  (EXP)
C60 fullerene  (ISO)
cabergoline  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
carbamazepine  (ISO)
CGP 52608  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
cinnarizine  (ISO)
clomipramine  (ISO)
clozapine  (EXP,ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (ISO)
cyanazine  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
diltiazem  (ISO)
dizocilpine  (ISO)
dizocilpine maleate  (ISO)
domperidone  (ISO)
dopamine  (EXP,ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
eticlopride(1+)  (EXP,ISO)
felbamate  (ISO)
fenpyroximate  (EXP)
flunarizine  (ISO)
fluoxetine  (ISO)
fluphenazine  (EXP)
formaldehyde  (ISO)
furan  (ISO)
gadolinium atom  (ISO)
gamma-hexachlorocyclohexane  (ISO)
haloperidol  (EXP,ISO)
heroin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
lamotrigine  (EXP)
lanthanum atom  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lipoic acid  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
loxapine  (ISO)
lurasidone hydrochloride  (EXP)
lysergic acid diethylamide  (ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
manidipine  (ISO)
melatonin  (ISO)
melevodopa  (ISO)
melittin  (EXP)
mephedrone  (ISO)
methadone  (ISO)
methamphetamine  (EXP,ISO)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (ISO)
methylphenidate  (ISO)
metoclopramide  (EXP,ISO)
mirtazapine  (ISO)
morphine  (ISO)
N-(1-benzyl-2-methylpyrrolidin-3-yl)-5-chloro-2-methoxy-4-(methylamino)benzamide  (EXP,ISO)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-Methylspiperone  (ISO)
nafadotride  (EXP)
naltrexone  (EXP)
nicotine  (ISO)
nifedipine  (ISO)
nimodipine  (ISO)
nitrogen dioxide  (ISO)
Nonylphenol  (ISO)
olanzapine  (EXP,ISO)
oxidopamine  (ISO)
oxybutynin  (ISO)
Oxypertine  (ISO)
paliperidone palmitate  (EXP,ISO)
paracetamol  (EXP)
paraquat  (ISO)
pentetrazol  (ISO)
pentobarbital  (ISO)
perfluorodecanoic acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
pergolide  (EXP)
phencyclidine  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
piperazines  (ISO)
piperidines  (EXP)
pramipexole  (EXP,ISO)
pregabalin  (ISO)
propamocarb  (ISO)
Propiverine  (ISO)
pyridines  (ISO)
pyrimidifen  (EXP)
quercetin  (ISO)
quetiapine fumarate  (ISO)
quinolinic acid  (ISO)
quinpirole  (EXP,ISO)
reserpine  (ISO)
resveratrol  (EXP)
risperidone  (EXP,ISO)
ropinirole  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
serotonin  (ISO)
simvastatin  (ISO)
SKF 38393  (ISO)
sodium arsenite  (ISO)
spiperone  (EXP,ISO)
sulpiride  (EXP,ISO)
tacrolimus hydrate  (ISO)
Tautomycin  (ISO)
tebufenpyrad  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thifluzamide  (EXP)
tianeptine  (ISO)
Tiapamil  (ISO)
topiramate  (ISO)
tramadol  (ISO)
trichostatin A  (ISO)
valproic acid  (ISO)
verapamil  (ISO)
vorinostat  (EXP)
VX nerve agent  (EXP)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acid secretion  (IEA)
activation of protein kinase activity  (ISO)
adenohypophysis development  (IEA,ISS)
adenylate cyclase-inhibiting dopamine receptor signaling pathway  (IBA,IDA,IEA)
adenylate cyclase-modulating G protein-coupled receptor signaling pathway  (IEA,ISO)
adult behavior  (IEA)
adult walking behavior  (IEA,ISS)
arachidonate secretion  (IDA)
associative learning  (IEA,ISS)
auditory behavior  (IEA,ISO)
autophagy  (IEA,ISO)
axonogenesis  (IEA,ISS)
behavioral response to cocaine  (IEA,ISS)
behavioral response to ethanol  (IEA,ISS)
beta-arrestin-dependent dopamine receptor signaling pathway  (NAS)
branching morphogenesis of a nerve  (IEA,ISS)
cell migration  (IEA)
cell population proliferation  (IEA)
cellular response to ethanol  (IEA,ISO)
cellular response to retinoic acid  (IEA,ISO)
cerebral cortex GABAergic interneuron migration  (IEA,ISS)
circadian regulation of gene expression  (IEA,ISS)
dopamine metabolic process  (IC,IEA)
dopamine uptake involved in synaptic transmission  (IEA)
drinking behavior  (IEA,ISO)
epithelial cell proliferation  (IEA)
excitatory postsynaptic potential  (NAS)
feeding behavior  (IEA)
forebrain development  (IEA,ISO)
G protein-coupled dopamine receptor signaling pathway  (IEA,ISO)
G protein-coupled receptor internalization  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA)
grooming behavior  (IEA)
hyaloid vascular plexus regression  (IEA,ISS)
intracellular calcium ion homeostasis  (IDA)
intracellular protein localization  (IEA,ISS)
intracellular signal transduction  (IDA)
locomotory behavior  (IEA,ISO,ISS)
long-term memory  (IEA,ISO)
modulation of chemical synaptic transmission  (IEA)
negative regulation of blood pressure  (IEA,ISS)
negative regulation of cell migration  (ISS)
negative regulation of cell population proliferation  (IEA,ISS)
negative regulation of cellular response to hypoxia  (IEA,ISO)
negative regulation of circadian sleep/wake cycle, sleep  (IEA,ISO)
negative regulation of cytosolic calcium ion concentration  (IBA,IEA,ISO)
negative regulation of dephosphorylation  (IEA,ISO)
negative regulation of dopamine receptor signaling pathway  (IEA,ISS)
negative regulation of dopamine secretion  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA)
negative regulation of innate immune response  (IEA)
negative regulation of insulin secretion  (IEA,ISO)
negative regulation of neuron migration  (IEA)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS,NAS)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein secretion  (IDA)
negative regulation of synaptic transmission  (IEA,ISO)
negative regulation of synaptic transmission, glutamatergic  (IBA,IEA,ISS)
nervous system process involved in regulation of systemic arterial blood pressure  (IEA,ISS)
neuroblast proliferation  (IEA)
neuron migration  (IEA)
neuron-neuron synaptic transmission  (IEA,ISS)
orbitofrontal cortex development  (IEA,ISO)
peristalsis  (IEA,ISS)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA)
phospholipase C-activating dopamine receptor signaling pathway  (IBA,IEA,IGI)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA)
pigmentation  (IEA)
positive regulation of cytokinesis  (IMP)
positive regulation of dopamine uptake involved in synaptic transmission  (IEA,ISS)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of G protein-coupled receptor signaling pathway  (IEA,ISO)
positive regulation of glial cell-derived neurotrophic factor production  (IDA)
positive regulation of growth hormone secretion  (IEA,ISS)
positive regulation of long-term synaptic potentiation  (IEA,ISO)
positive regulation of multicellular organism growth  (IEA)
positive regulation of multicellular organismal process  (IEA)
positive regulation of neuroblast proliferation  (IEA,ISS)
positive regulation of neurogenesis  (IEA,ISO)
positive regulation of receptor internalization  (IEA,ISO)
positive regulation of renal sodium excretion  (IEA)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of urine volume  (IEA)
postsynaptic modulation of chemical synaptic transmission  (IEA)
prepulse inhibition  (IEA,ISO,ISS)
presynaptic modulation of chemical synaptic transmission  (IEA)
regulation of amine transport  (IEA)
regulation of dopamine secretion  (IBA)
regulation of dopamine uptake involved in synaptic transmission  (IC,IEA)
regulation of heart rate  (IEA,ISS)
regulation of locomotion involved in locomotory behavior  (IEA,ISO)
regulation of long-term neuronal synaptic plasticity  (IEA,ISS)
regulation of MAPK cascade  (IEA,ISO)
regulation of neurotransmitter uptake  (IEA)
regulation of potassium ion transport  (IBA,IEA,ISS)
regulation of secretion by cell  (IEA)
regulation of sodium ion transport  (IEA,ISS)
regulation of synapse structural plasticity  (IEA,ISO)
regulation of synaptic transmission, GABAergic  (IEA,ISS)
release of sequestered calcium ion into cytosol  (ISS)
response to alcohol  (ISO)
response to amphetamine  (IEA,ISO,ISS)
response to axon injury  (IEA,ISO)
response to cocaine  (IEA,ISS)
response to estradiol  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to histamine  (IDA)
response to hypoxia  (IEA,ISO)
response to inactivity  (IEA,ISO)
response to iron ion  (IEA,ISO)
response to light stimulus  (IEA,ISS)
response to morphine  (IEA,ISS)
response to nicotine  (IEA,ISO)
response to toxic substance  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISS)
sensory perception of smell  (IEA,ISS)
signal transduction  (IEA)
startle response  (IEA,ISO)
striatum development  (IEA,ISO)
synapse assembly  (IEA,ISS)
synaptic transmission, dopaminergic  (IEA)
temperature homeostasis  (IEA,ISS)
visual learning  (IEA,ISS)
Wnt signaling pathway  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Striatal neurochemical changes in transgenic models of Huntington's disease. Ariano MA, etal., J Neurosci Res. 2002 Jun 15;68(6):716-29.
2. Reduced density of dopamine D2-like receptors on peripheral blood lymphocytes in Alzheimer's disease. Barbanti P, etal., Mech Ageing Dev. 2000 Dec 1;120(1-3):65-75.
3. D2 dopamine receptor Taq1A polymorphism, body weight, and dietary intake in type 2 diabetes. Barnard ND, etal., Nutrition. 2009 Jan;25(1):58-65. Epub 2008 Oct 2.
4. The physiology, signaling, and pharmacology of dopamine receptors. Beaulieu JM and Gainetdinov RR, Pharmacol Rev. 2011 Mar;63(1):182-217. doi: 10.1124/pr.110.002642. Epub 2011 Feb 8.
5. Dopamine receptors - IUPHAR Review 13. Beaulieu JM, etal., Br J Pharmacol. 2015 Jan;172(1):1-23.
6. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
7. Isolated Flinders Sensitive Line rats have decreased dopamine D2 receptor mRNA. Bjornebekk A, etal., Neuroreport. 2007 Jul 2;18(10):1039-43.
8. Cocaine self-administration produces a persistent increase in dopamine D2 High receptors. Briand LA, etal., Eur Neuropsychopharmacol. 2008 Aug;18(8):551-6. Epub 2008 Mar 4.
9. mRNA D(2) dopaminergic receptor expression after hypoxia-ischemia in rat immature brain. Cantagrel S, etal., Biol Neonate. 2001 Jul;80(1):68-73.
10. Cognitive impairment and gene expression alterations in a rodent model of binge eating disorder. Chawla A, etal., Physiol Behav. 2017 Oct 15;180:78-90. doi: 10.1016/j.physbeh.2017.08.004. Epub 2017 Aug 15.
11. High and low doses of cocaine intake are differentially regulated by dopamine D2 receptors in the ventral tegmental area and the nucleus accumbens. Chen R, etal., Neurosci Lett. 2018 Feb 14;671:133-139. doi: 10.1016/j.neulet.2018.02.026.
12. Aberrant cortical synaptic plasticity and dopaminergic dysfunction in a mouse model of Huntington's disease. Cummings DM, etal., Hum Mol Genet. 2006 Oct 1;15(19):2856-68. Epub 2006 Aug 11.
13. Pharmacogenetic clinical trial of sustained-release bupropion for smoking cessation. David SP, etal., Nicotine Tob Res. 2007 Aug;9(8):821-33.
14. The CRF1 receptor antagonist, antalarmin, reverses isolation-induced up-regulation of dopamine D2 receptors in the amygdala and nucleus accumbens of fawn-hooded rats. Djouma E, etal., Eur J Neurosci. 2006 Jun;23(12):3319-27.
15. Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. Doehring A, etal., Pharmacogenet Genomics. 2009 Jun;19(6):407-14. doi: 10.1097/FPC.0b013e328320a3fd.
16. Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language. Eicher JD, etal., PLoS One. 2013 May 15;8(5):e63762. doi: 10.1371/journal.pone.0063762. Print 2013.
17. Developmental changes in the mRNA expression of neuropeptides and dopamine and glutamate receptors in neonates and adult rats after ventral hippocampal lesion. El-Rawas R, etal., Schizophr Res. 2009 Jun 3.
18. An affected pedigree member analysis of linkage between the dopamine D2 receptor gene TaqI polymorphism and obesity and hypertension. Fang YJ, etal., Int J Cardiol. 2005 Jun 22;102(1):111-6.
19. Effects of Long-Term Alcohol Drinking on the Dopamine D2 Receptor: Gene Expression and Heteroreceptor Complexes in the Striatum in Rats. Feltmann K, etal., Alcohol Clin Exp Res. 2018 Feb;42(2):338-351. doi: 10.1111/acer.13568. Epub 2018 Jan 24.
20. Dopamine receptor 2 activation inhibits ovarian vascular endothelial growth factor secretion in an ovarian hyperstimulation syndrome (OHSS) animal model: implications for treatment of OHSS with dopamine receptor 2 agonists. Ferrero H, etal., Fertil Steril. 2014 Nov;102(5):1468-1476.e1. doi: 10.1016/j.fertnstert.2014.07.1240. Epub 2014 Sep 11.
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PMID:21150907   PMID:21168125   PMID:21168353   PMID:21184734   PMID:21205584   PMID:21206399   PMID:21233215   PMID:21244440   PMID:21247255   PMID:21256133   PMID:21261454   PMID:21287294  
PMID:21292452   PMID:21335363   PMID:21354244   PMID:21384582   PMID:21470832   PMID:21477416   PMID:21493728   PMID:21499141   PMID:21510979   PMID:21540761   PMID:21554498   PMID:21563886  
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PMID:21690048   PMID:21711983   PMID:21712758   PMID:21714067   PMID:21748460   PMID:21750899   PMID:21776983   PMID:21777187   PMID:21781348   PMID:21822697   PMID:21853233   PMID:21861710  
PMID:21873635   PMID:21875085   PMID:21932834   PMID:21948329   PMID:21964403   PMID:21966540   PMID:21976709   PMID:22020993   PMID:22051885   PMID:22081881   PMID:22100647   PMID:22113132  
PMID:22117524   PMID:22127489   PMID:22147558   PMID:22183739   PMID:22198450   PMID:22211920   PMID:22232963   PMID:22234337   PMID:22244514   PMID:22262089   PMID:22290266   PMID:22291025  
PMID:22336227   PMID:22338593   PMID:22366823   PMID:22370928   PMID:22384243   PMID:22391864   PMID:22396414   PMID:22408582   PMID:22414959   PMID:22416052   PMID:22424959   PMID:22435397  
PMID:22474103   PMID:22487365   PMID:22497991   PMID:22497994   PMID:22514151   PMID:22521396   PMID:22525159   PMID:22529362   PMID:22531292   PMID:22536882   PMID:22541053   PMID:22559203  
PMID:22569179   PMID:22573693   PMID:22574669   PMID:22579533   PMID:22582185   PMID:22591910   PMID:22593996   PMID:22623677   PMID:22682503   PMID:22683321   PMID:22712841   PMID:22728571  
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PMID:22893251   PMID:22903038   PMID:22939506   PMID:22947540   PMID:22958175   PMID:22963930   PMID:22967772   PMID:22970199   PMID:22970887   PMID:22990224   PMID:23044341   PMID:23057570  
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PMID:23918380   PMID:23947671   PMID:23948784   PMID:23954846   PMID:23963056   PMID:23988166   PMID:24001007   PMID:24058526   PMID:24077552   PMID:24078558   PMID:24086483   PMID:24134200  
PMID:24157248   PMID:24163823   PMID:24174684   PMID:24193094   PMID:24225542   PMID:24229495   PMID:24247049   PMID:24283216   PMID:24292102   PMID:24293642   PMID:24312552   PMID:24322206  
PMID:24332987   PMID:24334314   PMID:24345165   PMID:24359476   PMID:24361183   PMID:24379187   PMID:24446757   PMID:24469773   PMID:24495967   PMID:24585059   PMID:24598436   PMID:24618367  
PMID:24629326   PMID:24634060   PMID:24655768   PMID:24657591   PMID:24658464   PMID:24675081   PMID:24682224   PMID:24704945   PMID:24713612   PMID:24713613   PMID:24719111   PMID:24723432  
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PMID:27399274   PMID:27447243   PMID:27449010   PMID:27472173   PMID:27490860   PMID:27519461   PMID:27580593   PMID:27591410   PMID:27634830   PMID:27696930   PMID:27779245   PMID:27786532  
PMID:27819741   PMID:27826691   PMID:27829443   PMID:27848079   PMID:27867061   PMID:27883923   PMID:27886638   PMID:27908295   PMID:27920206   PMID:28000543   PMID:28065597   PMID:28085950  
PMID:28089678   PMID:28094815   PMID:28115213   PMID:28119185   PMID:28120505   PMID:28152448   PMID:28154160   PMID:28222164   PMID:28223337   PMID:28241982   PMID:28285026   PMID:28298427  
PMID:28331050   PMID:28364268   PMID:28392487   PMID:28393838   PMID:28398340   PMID:28409407   PMID:28416594   PMID:28438833   PMID:28451935   PMID:28454051   PMID:28486630   PMID:28514442  
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PMID:31676688   PMID:31702801   PMID:31704949   PMID:31727925   PMID:31734646   PMID:31766642   PMID:31792443   PMID:31847007   PMID:31863847   PMID:31867628   PMID:31868570   PMID:31882947  
PMID:31889426   PMID:31936673   PMID:31943514   PMID:31948125   PMID:32020513   PMID:32060901   PMID:32083297   PMID:32090582   PMID:32119983   PMID:32183536   PMID:32365120   PMID:32420660  
PMID:32450252   PMID:32493513   PMID:32528175   PMID:32572597   PMID:32588604   PMID:32764574   PMID:32815424   PMID:32818617   PMID:32828283   PMID:32888283   PMID:32889058   PMID:32931693  
PMID:32962859   PMID:32977535   PMID:33039854   PMID:33179159   PMID:33264473   PMID:33287325   PMID:33308256   PMID:33318558   PMID:33353947   PMID:33431672   PMID:33444693   PMID:33524518  
PMID:33529975   PMID:33571431   PMID:33738781   PMID:33781176   PMID:33804403   PMID:33846213   PMID:33859743   PMID:33961781   PMID:33974399   PMID:34086098   PMID:34237211   PMID:34264865  
PMID:34349232   PMID:34420901   PMID:34440391   PMID:34440393   PMID:34440413   PMID:34470923   PMID:34478125   PMID:34524581   PMID:34583367   PMID:34626593   PMID:34702857   PMID:34818409  
PMID:34853389   PMID:34904796   PMID:35216115   PMID:35263227   PMID:35328003   PMID:35361701   PMID:35411010   PMID:35457347   PMID:35564336   PMID:35635675   PMID:35790424   PMID:35893053  
PMID:35968502   PMID:36011589   PMID:36043564   PMID:36063601   PMID:36078646   PMID:36082055   PMID:36437548   PMID:36456191   PMID:36710462   PMID:36740143   PMID:36747480   PMID:36805080  
PMID:36972629   PMID:37015728   PMID:37213155   PMID:37291918   PMID:37373182   PMID:37400684   PMID:37532131   PMID:37563671   PMID:37578679   PMID:37729778   PMID:37752366   PMID:37880658  
PMID:37892234   PMID:38643909   PMID:38749085   PMID:39012703   PMID:39187246   PMID:39265714   PMID:39300138   PMID:39425204  


Genomics

Comparative Map Data
DRD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811113,409,605 - 113,475,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11113,409,605 - 113,475,691 (-)Ensemblhg38GRCh38
GRCh3711113,280,327 - 113,346,120 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611112,785,527 - 112,851,091 (-)NCBIBuild 36Build 36hg18NCBI36
Build 3411112,785,527 - 112,851,103NCBI
Celera11110,433,249 - 110,498,937 (-)NCBICelera
Cytogenetic Map11q23.2NCBI
HuRef11109,208,766 - 109,274,420 (-)NCBIHuRef
CHM1_111113,163,302 - 113,228,980 (-)NCBICHM1_1
T2T-CHM13v2.011113,420,107 - 113,485,882 (-)NCBIT2T-CHM13v2.0
Drd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39949,251,703 - 49,319,468 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl949,251,927 - 49,319,477 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38949,340,360 - 49,408,177 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl949,340,627 - 49,408,177 (+)Ensemblmm10GRCm38
MGSCv37949,148,767 - 49,215,319 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36949,092,857 - 49,160,407 (+)NCBIMGSCv36mm8
Celera946,638,220 - 46,705,025 (+)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map926.72NCBI
Drd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8858,605,403 - 58,669,339 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl858,605,403 - 58,669,339 (+)EnsemblGRCr8
mRatBN7.2849,708,927 - 49,772,876 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl849,708,927 - 49,772,875 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx855,213,102 - 55,276,965 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0853,491,983 - 53,555,839 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0851,356,250 - 51,420,103 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0853,678,777 - 53,743,643 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl853,678,777 - 53,743,642 (+)Ensemblrn6Rnor6.0
Rnor_5.0852,298,097 - 52,363,814 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4852,641,160 - 52,707,749 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera849,262,252 - 49,324,732 (+)NCBICelera
RGSC_v3.1852,660,213 - 52,726,803 (+)NCBI
Cytogenetic Map8q23NCBI
Drd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541215,054,038 - 15,114,573 (-)Ensembl
ChiLan1.0NW_00495541215,054,255 - 15,114,558 (-)NCBIChiLan1.0ChiLan1.0
DRD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29114,154,239 - 114,221,542 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111115,248,609 - 115,315,908 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011108,289,838 - 108,357,174 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111112,132,703 - 112,168,583 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11112,132,703 - 112,198,935 (-)EnsemblpanPan2panpan1.1
DRD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1519,732,842 - 19,795,241 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl519,732,836 - 19,795,241 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha519,704,390 - 19,715,716 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0519,803,212 - 19,815,852 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl519,754,070 - 19,815,870 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1519,865,917 - 19,877,447 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0519,767,231 - 19,778,550 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0519,814,856 - 19,826,385 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Drd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494795,551,429 - 95,610,929 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366121,094,680 - 1,154,798 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366121,094,686 - 1,154,149 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DRD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl941,068,779 - 41,133,599 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1941,068,618 - 41,135,262 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2945,883,054 - 45,897,704 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DRD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11104,774,632 - 104,843,417 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1104,774,180 - 104,842,736 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604321,144,996 - 21,236,456 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Drd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247848,827,006 - 8,865,529 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247848,828,589 - 8,906,617 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in DRD2
145 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000795.4(DRD2):c.460G>A (p.Val154Ile) single nucleotide variant Myoclonic dystonia 11 [RCV000018259] Chr11:113416935 [GRCh38]
Chr11:113287657 [GRCh37]
Chr11:11q23.2		 pathogenic|uncertain significance
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_000795.3(DRD2):c.1040C>T (p.Pro347Leu) single nucleotide variant Malignant melanoma [RCV000062126] Chr11:113412654 [GRCh38]
Chr11:113283376 [GRCh37]
Chr11:112788586 [NCBI36]
Chr11:11q23.2		 not provided
NM_000795.3(DRD2):c.-32+22658C>A single nucleotide variant Lung cancer [RCV000109605] Chr11:113452418 [GRCh38]
Chr11:113323140 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.957C>T (p.Pro319=) single nucleotide variant Dystonic disorder [RCV001513859]|not provided [RCV004703447]|not specified [RCV000179786] Chr11:113412737 [GRCh38]
Chr11:113283459 [GRCh37]
Chr11:11q23.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
NM_000795.4(DRD2):c.731G>C (p.Cys244Ser) single nucleotide variant not provided [RCV000179343] Chr11:113414454 [GRCh38]
Chr11:113285176 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.285+7G>A single nucleotide variant Dystonic disorder [RCV000544260]|not provided [RCV004707310] Chr11:113424360 [GRCh38]
Chr11:113295082 [GRCh37]
Chr11:11q23.2		 benign
NC_000011.10:g.113475629T>C single nucleotide variant Dystonic disorder [RCV002057063]|not provided [RCV004706668]|not specified [RCV000606080] Chr11:113475629 [GRCh38]
Chr11:113346351 [GRCh37]
Chr11:11q23.2		 benign|drug response
NM_000795.4(DRD2):c.979A>G (p.Lys327Glu) single nucleotide variant Dystonic disorder [RCV000229349]|not provided [RCV004706673] Chr11:113412715 [GRCh38]
Chr11:113283437 [GRCh37]
Chr11:11q23.2		 benign|likely benign
NM_000795.4(DRD2):c.1228G>A (p.Ala410Thr) single nucleotide variant Dystonic disorder [RCV000231670] Chr11:113410831 [GRCh38]
Chr11:113281553 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.423G>A (p.Leu141=) single nucleotide variant Dystonic disorder [RCV000226573]|not provided [RCV004705054]|not specified [RCV000254464] Chr11:113416972 [GRCh38]
Chr11:113287694 [GRCh37]
Chr11:11q23.2		 benign|likely benign
NM_000795.4(DRD2):c.*16G>A single nucleotide variant not specified [RCV000250896] Chr11:113410711 [GRCh38]
Chr11:113281433 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) single nucleotide variant DRD2-associated Dystonia [RCV002265711]|Dystonic disorder [RCV001086779]|not provided [RCV000723713]|not specified [RCV000246273] Chr11:113412766 [GRCh38]
Chr11:113283488 [GRCh37]
Chr11:11q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000795.4(DRD2):c.939T>C (p.His313=) single nucleotide variant Dystonic disorder [RCV001513860]|Schizophrenia [RCV003633489]|not provided [RCV001711663]|not specified [RCV000242384] Chr11:113412755 [GRCh38]
Chr11:113283477 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) single nucleotide variant Dystonic disorder [RCV000537533]|not provided [RCV001668447]|not specified [RCV000250604] Chr11:113412762 [GRCh38]
Chr11:113283484 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.667G>A (p.Val223Ile) single nucleotide variant not provided [RCV000373344]|not specified [RCV004619246] Chr11:113415477 [GRCh38]
Chr11:113286199 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.432G>A (p.Thr144=) single nucleotide variant not provided [RCV000304203] Chr11:113416963 [GRCh38]
Chr11:113287685 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.-31-870T>C single nucleotide variant Dystonic disorder [RCV002064132]|not specified [RCV000599725] Chr11:113425552 [GRCh38]
Chr11:113296274 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.870C>G (p.Pro290=) single nucleotide variant Dystonic disorder [RCV000559062]|not provided [RCV004708926] Chr11:113412824 [GRCh38]
Chr11:113283546 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.811-83G>T single nucleotide variant Dystonic disorder [RCV000630731]|not provided [RCV001662373] Chr11:113412966 [GRCh38]
Chr11:113283688 [GRCh37]
Chr11:11q23.2		 benign|likely benign|drug response
NM_000795.4(DRD2):c.132C>T (p.Leu44=) single nucleotide variant Dystonic disorder [RCV000473961]|not provided [RCV001672795] Chr11:113424520 [GRCh38]
Chr11:113295242 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1305G>A (p.Lys435=) single nucleotide variant Dystonic disorder [RCV000465239] Chr11:113410754 [GRCh38]
Chr11:113281476 [GRCh37]
Chr11:11q23.2		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000795.4(DRD2):c.153C>A (p.Gly51=) single nucleotide variant Dystonic disorder [RCV000630732]|not provided [RCV003884672] Chr11:113424499 [GRCh38]
Chr11:113295221 [GRCh37]
Chr11:11q23.2		 benign|likely benign
NM_000795.4(DRD2):c.598G>A (p.Val200Met) single nucleotide variant not specified [RCV004302444] Chr11:113415546 [GRCh38]
Chr11:113286268 [GRCh37]
Chr11:11q23.2		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_000795.4(DRD2):c.880C>T (p.Arg294Trp) single nucleotide variant Dystonic disorder [RCV000705272] Chr11:113412814 [GRCh38]
Chr11:113283536 [GRCh37]
Chr11:11q23.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000795.4(DRD2):c.811-75A>T single nucleotide variant not provided [RCV001678630] Chr11:113412958 [GRCh38]
Chr11:113283680 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.723+135G>A single nucleotide variant not provided [RCV001648898] Chr11:113415286 [GRCh38]
Chr11:113286008 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.-31-295C>T single nucleotide variant not provided [RCV001666770] Chr11:113424977 [GRCh38]
Chr11:113295699 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1138+65T>G single nucleotide variant not provided [RCV001663059] Chr11:113412491 [GRCh38]
Chr11:113283213 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.816T>C (p.Ala272=) single nucleotide variant not provided [RCV000865267] Chr11:113412878 [GRCh38]
Chr11:113283600 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.78C>T (p.Asp26=) single nucleotide variant Dystonic disorder [RCV000863748] Chr11:113424574 [GRCh38]
Chr11:113295296 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.930G>A (p.Pro310=) single nucleotide variant Dystonic disorder [RCV001510676] Chr11:113412764 [GRCh38]
Chr11:113283486 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.741C>G (p.Pro247=) single nucleotide variant Dystonic disorder [RCV002062272] Chr11:113414444 [GRCh38]
Chr11:113285166 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1138+9del deletion Dystonic disorder [RCV001421060] Chr11:113412547 [GRCh38]
Chr11:113283269 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.381C>T (p.Ala127=) single nucleotide variant not provided [RCV000949780] Chr11:113418041 [GRCh38]
Chr11:113288763 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.191C>T (p.Ala64Val) single nucleotide variant Dystonic disorder [RCV000862937]|not specified [RCV003330972] Chr11:113424461 [GRCh38]
Chr11:113295183 [GRCh37]
Chr11:11q23.2		 likely benign|uncertain significance
NM_000795.4(DRD2):c.360G>C (p.Ala120=) single nucleotide variant not provided [RCV000903046] Chr11:113418062 [GRCh38]
Chr11:113288784 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.60G>A (p.Arg20=) single nucleotide variant Dystonic disorder [RCV000860895]|not provided [RCV004707417] Chr11:113424592 [GRCh38]
Chr11:113295314 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.852C>T (p.Leu284=) single nucleotide variant Dystonic disorder [RCV000861031]|not provided [RCV004707420] Chr11:113412842 [GRCh38]
Chr11:113283564 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.899C>A (p.Pro300His) single nucleotide variant Dystonic disorder [RCV000809816] Chr11:113412795 [GRCh38]
Chr11:113283517 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1138+7C>T single nucleotide variant Dystonic disorder [RCV005092589] Chr11:113412549 [GRCh38]
Chr11:113283271 [GRCh37]
Chr11:11q23.2		 benign
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NM_000795.4(DRD2):c.1096C>A (p.Gln366Lys) single nucleotide variant Dystonic disorder [RCV000811010]|not specified [RCV004907663] Chr11:113412598 [GRCh38]
Chr11:113283320 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.820C>T (p.Arg274Trp) single nucleotide variant Dystonic disorder [RCV000811299] Chr11:113412874 [GRCh38]
Chr11:113283596 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.231A>G (p.Ala77=) single nucleotide variant Dystonic disorder [RCV001463870] Chr11:113424421 [GRCh38]
Chr11:113295143 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.156C>T (p.Asn52=) single nucleotide variant Dystonic disorder [RCV000871270] Chr11:113424496 [GRCh38]
Chr11:113295218 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.781G>A (p.Gly261Arg) single nucleotide variant Dystonic disorder [RCV001069063]|not specified [RCV004030698] Chr11:113414404 [GRCh38]
Chr11:113285126 [GRCh37]
Chr11:11q23.2		 uncertain significance
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 copy number loss not provided [RCV001006439] Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2		 pathogenic
GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1 copy number loss not provided [RCV000848936] Chr11:110969076..114578509 [GRCh37]
Chr11:11q23.1-23.3		 uncertain significance
NM_000795.4(DRD2):c.526A>G (p.Asn176Asp) single nucleotide variant Dystonic disorder [RCV001242381] Chr11:113416869 [GRCh38]
Chr11:113287591 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.532+74C>A single nucleotide variant not provided [RCV001621354] Chr11:113416789 [GRCh38]
Chr11:113287511 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.724-116C>T single nucleotide variant not provided [RCV001671966] Chr11:113414577 [GRCh38]
Chr11:113285299 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.286-179C>T single nucleotide variant not provided [RCV001620565] Chr11:113418315 [GRCh38]
Chr11:113289037 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.533-157G>A single nucleotide variant not provided [RCV001656637] Chr11:113415768 [GRCh38]
Chr11:113415768..113415769 [GRCh38]
Chr11:113286490 [GRCh37]
Chr11:113286490..113286491 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.516C>T (p.Phe172=) single nucleotide variant Dystonic disorder [RCV001510194] Chr11:113416879 [GRCh38]
Chr11:113287601 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.69C>T (p.Asn23=) single nucleotide variant Dystonic disorder [RCV000861616] Chr11:113424583 [GRCh38]
Chr11:113295305 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.741C>T (p.Pro247=) single nucleotide variant Dystonic disorder [RCV000861869]|not provided [RCV004707423] Chr11:113414444 [GRCh38]
Chr11:113285166 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.966C>T (p.Pro322=) single nucleotide variant Dystonic disorder [RCV000862603] Chr11:113412728 [GRCh38]
Chr11:113283450 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1272C>T (p.Ile424=) single nucleotide variant Dystonic disorder [RCV002065454] Chr11:113410787 [GRCh38]
Chr11:113281509 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1236G>A (p.Thr412=) single nucleotide variant Dystonic disorder [RCV000861135]|not provided [RCV003411834] Chr11:113410823 [GRCh38]
Chr11:113281545 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.357G>A (p.Thr119=) single nucleotide variant Dystonic disorder [RCV002538899] Chr11:113418065 [GRCh38]
Chr11:113288787 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1260C>T (p.Ala420=) single nucleotide variant Dystonic disorder [RCV001457800] Chr11:113410799 [GRCh38]
Chr11:113281521 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.903C>T (p.Ser301=) single nucleotide variant not provided [RCV000938964] Chr11:113412791 [GRCh38]
Chr11:113283513 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.947A>C (p.His316Pro) single nucleotide variant Dystonic disorder [RCV001203767]|not provided [RCV001812248]|not specified [RCV004619547] Chr11:113412747 [GRCh38]
Chr11:113283469 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.724-126C>T single nucleotide variant not provided [RCV001675025] Chr11:113414587 [GRCh38]
Chr11:113285309 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.285+91A>T single nucleotide variant not provided [RCV001716413] Chr11:113424276 [GRCh38]
Chr11:113294998 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1139-134T>G single nucleotide variant not provided [RCV001639037] Chr11:113411054 [GRCh38]
Chr11:113281776 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.285+113A>G single nucleotide variant not provided [RCV001656670] Chr11:113424254 [GRCh38]
Chr11:113294976 [GRCh37]
Chr11:11q23.2		 benign
NC_000011.10:g.113475530dup duplication Dystonic disorder [RCV002072946]|not provided [RCV001638497] Chr11:113475529..113475530 [GRCh38]
Chr11:113346251..113346252 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1139-174C>T single nucleotide variant not provided [RCV001709381] Chr11:113411094 [GRCh38]
Chr11:113281816 [GRCh37]
Chr11:11q23.2		 benign
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 copy number loss not provided [RCV001006445] Chr11:105699599..114524876 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000795.4(DRD2):c.821G>A (p.Arg274Gln) single nucleotide variant Dystonic disorder [RCV001351455]|not specified [RCV004917698] Chr11:113412873 [GRCh38]
Chr11:113283595 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.533-4C>T single nucleotide variant Dystonic disorder [RCV001434075] Chr11:113415615 [GRCh38]
Chr11:113286337 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.151G>A (p.Gly51Ser) single nucleotide variant Dystonic disorder [RCV001307433] Chr11:113424501 [GRCh38]
Chr11:113295223 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.295G>A (p.Glu99Lys) single nucleotide variant Dystonic disorder [RCV001302671]|not specified [RCV004619609] Chr11:113418127 [GRCh38]
Chr11:113288849 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.536A>G (p.Gln179Arg) single nucleotide variant Dystonic disorder [RCV001371203] Chr11:113415608 [GRCh38]
Chr11:113286330 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.924C>T (p.Pro308=) single nucleotide variant Dystonic disorder [RCV001395284] Chr11:113412770 [GRCh38]
Chr11:113283492 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1143G>A (p.Val381=) single nucleotide variant Dystonic disorder [RCV001483306] Chr11:113410916 [GRCh38]
Chr11:113281638 [GRCh37]
Chr11:11q23.2		 likely benign
NC_000011.10:g.113476233A>G single nucleotide variant Dystonic disorder [RCV001512458] Chr11:113476233 [GRCh38]
Chr11:113346955 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.*52G>A single nucleotide variant not provided [RCV001692907] Chr11:113410675 [GRCh38]
Chr11:113281397 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.286-324A>G single nucleotide variant not provided [RCV001681683] Chr11:113418460 [GRCh38]
Chr11:113289182 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.811-200dup duplication not provided [RCV001673517] Chr11:113413078..113413079 [GRCh38]
Chr11:113283800..113283801 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.285+191C>T single nucleotide variant not provided [RCV001685180] Chr11:113424176 [GRCh38]
Chr11:113294898 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.723+227G>A single nucleotide variant not provided [RCV001678610] Chr11:113415194 [GRCh38]
Chr11:113285916 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.533-168T>C single nucleotide variant not provided [RCV001652670] Chr11:113415779 [GRCh38]
Chr11:113286501 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1139-208G>A single nucleotide variant not provided [RCV001619054] Chr11:113411128 [GRCh38]
Chr11:113281850 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.286-208G>A single nucleotide variant not provided [RCV001650140] Chr11:113418344 [GRCh38]
Chr11:113418344..113418345 [GRCh38]
Chr11:113289066 [GRCh37]
Chr11:113289066..113289067 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.724-353G>T single nucleotide variant Dystonic disorder [RCV001516887] Chr11:113414814 [GRCh38]
Chr11:113285536 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.942T>C (p.Gly314=) single nucleotide variant Dystonic disorder [RCV001500531] Chr11:113412752 [GRCh38]
Chr11:113283474 [GRCh37]
Chr11:11q23.2		 likely benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_000795.4(DRD2):c.70G>A (p.Gly24Arg) single nucleotide variant Dystonic disorder [RCV001950226]|not provided [RCV003992584] Chr11:113424582 [GRCh38]
Chr11:113295304 [GRCh37]
Chr11:11q23.2		 likely benign|uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_000795.4(DRD2):c.1126G>C (p.Ala376Pro) single nucleotide variant Dystonic disorder [RCV001928799] Chr11:113412568 [GRCh38]
Chr11:113283290 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.533-545_533-544delinsGG indel Dystonic disorder [RCV001901883] Chr11:113416155..113416156 [GRCh38]
Chr11:113286877..113286878 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1121T>G (p.Met374Arg) single nucleotide variant Dystonic disorder [RCV001921835] Chr11:113412573 [GRCh38]
Chr11:113283295 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1079G>A (p.Arg360His) single nucleotide variant Dystonic disorder [RCV001936482]|not provided [RCV003401916]|not specified [RCV004041867] Chr11:113412615 [GRCh38]
Chr11:113283337 [GRCh37]
Chr11:11q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000795.4(DRD2):c.1257C>T (p.Ser419=) single nucleotide variant Dystonic disorder [RCV002146059]|not provided [RCV004704798] Chr11:113410802 [GRCh38]
Chr11:113281524 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.858C>T (p.Ser286=) single nucleotide variant Dystonic disorder [RCV002185745] Chr11:113412836 [GRCh38]
Chr11:113283558 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.723+17dup duplication Dystonic disorder [RCV002194896] Chr11:113415403..113415404 [GRCh38]
Chr11:113286125..113286126 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.396-11C>T single nucleotide variant Dystonic disorder [RCV002133938] Chr11:113417010 [GRCh38]
Chr11:113287732 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.533-6C>T single nucleotide variant Dystonic disorder [RCV002215748] Chr11:113415617 [GRCh38]
Chr11:113286339 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.285+15del deletion Dystonic disorder [RCV002172243] Chr11:113424352 [GRCh38]
Chr11:113295074 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.-32+24002G>A single nucleotide variant Dystonic disorder [RCV002115943] Chr11:113451074 [GRCh38]
Chr11:113321796 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.1139-653A>C single nucleotide variant Dystonic disorder [RCV002179129]|not provided [RCV004709187] Chr11:113411573 [GRCh38]
Chr11:113282295 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.810+20A>G single nucleotide variant Dystonic disorder [RCV002118042]|not provided [RCV004707765] Chr11:113414355 [GRCh38]
Chr11:113285077 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.533-545A>G single nucleotide variant Dystonic disorder [RCV002182187] Chr11:113416156 [GRCh38]
Chr11:113286878 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.533-3C>T single nucleotide variant Dystonic disorder [RCV003112617] Chr11:113415614 [GRCh38]
Chr11:113286336 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.649C>T (p.Arg217Cys) single nucleotide variant Dystonic disorder [RCV003118838] Chr11:113415495 [GRCh38]
Chr11:113286217 [GRCh37]
Chr11:11q23.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1 copy number loss not provided [RCV002474547] Chr11:109328787..116414966 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NM_000795.4(DRD2):c.417C>G (p.Pro139=) single nucleotide variant Dystonic disorder [RCV002616677] Chr11:113416978 [GRCh38]
Chr11:113287700 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.870C>T (p.Pro290=) single nucleotide variant Dystonic disorder [RCV003080660] Chr11:113412824 [GRCh38]
Chr11:113283546 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.680G>A (p.Arg227His) single nucleotide variant not specified [RCV004180106] Chr11:113415464 [GRCh38]
Chr11:113286186 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.426C>T (p.Tyr142=) single nucleotide variant Dystonic disorder [RCV002740864] Chr11:113416969 [GRCh38]
Chr11:113287691 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.396-8C>A single nucleotide variant Dystonic disorder [RCV002574987] Chr11:113417007 [GRCh38]
Chr11:113287729 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.113C>T (p.Ala38Val) single nucleotide variant Dystonic disorder [RCV002717071] Chr11:113424539 [GRCh38]
Chr11:113295261 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.157G>A (p.Val53Met) single nucleotide variant not specified [RCV004145250] Chr11:113424495 [GRCh38]
Chr11:113295217 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.289G>A (p.Val97Ile) single nucleotide variant Dystonic disorder [RCV002811469] Chr11:113418133 [GRCh38]
Chr11:113288855 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.390C>T (p.Ile130=) single nucleotide variant Dystonic disorder [RCV003071346] Chr11:113418032 [GRCh38]
Chr11:113288754 [GRCh37]
Chr11:11q23.2		 likely benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_000795.4(DRD2):c.1261G>A (p.Val421Met) single nucleotide variant not provided [RCV003398135] Chr11:113410798 [GRCh38]
Chr11:113281520 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.330C>T (p.Phe110=) single nucleotide variant not provided [RCV003410918] Chr11:113418092 [GRCh38]
Chr11:113288814 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.925G>A (p.Asp309Asn) single nucleotide variant Dystonic disorder [RCV003587268] Chr11:113412769 [GRCh38]
Chr11:113283491 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1139-3dup duplication Dystonic disorder [RCV003587757] Chr11:113410922..113410923 [GRCh38]
Chr11:113281644..113281645 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.449G>A (p.Arg150His) single nucleotide variant Dystonic disorder [RCV003746401] Chr11:113416946 [GRCh38]
Chr11:113287668 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.532+11C>T single nucleotide variant Dystonic disorder [RCV003747365] Chr11:113416852 [GRCh38]
Chr11:113287574 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.741C>A (p.Pro247=) single nucleotide variant Dystonic disorder [RCV003747625] Chr11:113414444 [GRCh38]
Chr11:113285166 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.287T>C (p.Val96Ala) single nucleotide variant Dystonic disorder [RCV003746425] Chr11:113418135 [GRCh38]
Chr11:113288857 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1292T>C (p.Ile431Thr) single nucleotide variant Dystonic disorder [RCV003746460]|not specified [RCV004374063] Chr11:113410767 [GRCh38]
Chr11:113281489 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.967G>A (p.Ala323Thr) single nucleotide variant Dystonic disorder [RCV003747544] Chr11:113412727 [GRCh38]
Chr11:113283449 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.183C>A (p.Arg61=) single nucleotide variant Dystonic disorder [RCV003586830] Chr11:113424469 [GRCh38]
Chr11:113295191 [GRCh37]
Chr11:11q23.2		 benign
NM_000795.4(DRD2):c.144C>T (p.Ile48=) single nucleotide variant Dystonic disorder [RCV003747419] Chr11:113424508 [GRCh38]
Chr11:113295230 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1023T>C (p.Phe341=) single nucleotide variant Dystonic disorder [RCV003587186] Chr11:113412671 [GRCh38]
Chr11:113283393 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.219C>T (p.Ile73=) single nucleotide variant Dystonic disorder [RCV003746163] Chr11:113424433 [GRCh38]
Chr11:113295155 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1149C>T (p.Ile383=) single nucleotide variant Dystonic disorder [RCV003844951] Chr11:113410910 [GRCh38]
Chr11:113281632 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1043A>G (p.Asn348Ser) single nucleotide variant not provided [RCV003885119] Chr11:113412651 [GRCh38]
Chr11:113283373 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.181C>T (p.Arg61Cys) single nucleotide variant not provided [RCV003885293] Chr11:113424471 [GRCh38]
Chr11:113295193 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.679C>T (p.Arg227Cys) single nucleotide variant not specified [RCV004377089] Chr11:113415465 [GRCh38]
Chr11:113286187 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.88G>A (p.Asp30Asn) single nucleotide variant not specified [RCV004377090] Chr11:113424564 [GRCh38]
Chr11:113295286 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.136G>A (p.Ala46Thr) single nucleotide variant not specified [RCV004619844] Chr11:113424516 [GRCh38]
Chr11:113295238 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.87G>A (p.Ala29=) single nucleotide variant Dystonic disorder [RCV005105225]|not provided [RCV004811677] Chr11:113424565 [GRCh38]
Chr11:113295287 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.58C>T (p.Arg20Trp) single nucleotide variant not specified [RCV004914349] Chr11:113424594 [GRCh38]
Chr11:113295316 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.766A>G (p.Ile256Val) single nucleotide variant not specified [RCV004914350] Chr11:113414419 [GRCh38]
Chr11:113285141 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1070C>T (p.Thr357Ile) single nucleotide variant not specified [RCV004914353] Chr11:113412624 [GRCh38]
Chr11:113283346 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1077C>A (p.Ser359Arg) single nucleotide variant not specified [RCV004914352] Chr11:113412617 [GRCh38]
Chr11:113283339 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.529G>A (p.Ala177Thr) single nucleotide variant Dystonic disorder [RCV005106843] Chr11:113416866 [GRCh38]
Chr11:113287588 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.380C>T (p.Ala127Val) single nucleotide variant Dystonic disorder [RCV005174988] Chr11:113418042 [GRCh38]
Chr11:113288764 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.286-16G>A single nucleotide variant Dystonic disorder [RCV005181489] Chr11:113418152 [GRCh38]
Chr11:113288874 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.659G>A (p.Arg220His) single nucleotide variant Dystonic disorder [RCV005181354] Chr11:113415485 [GRCh38]
Chr11:113286207 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.936C>T (p.His312=) single nucleotide variant Dystonic disorder [RCV005153160] Chr11:113412758 [GRCh38]
Chr11:113283480 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1278C>T (p.Tyr426=) single nucleotide variant Dystonic disorder [RCV005186324] Chr11:113410781 [GRCh38]
Chr11:113281503 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.438C>T (p.Tyr146=) single nucleotide variant not provided [RCV005244862] Chr11:113416957 [GRCh38]
Chr11:113287679 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.621G>C (p.Leu207=) single nucleotide variant Dystonic disorder [RCV005204418] Chr11:113415523 [GRCh38]
Chr11:113286245 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.711G>A (p.Arg237=) single nucleotide variant Dystonic disorder [RCV005197980] Chr11:113415433 [GRCh38]
Chr11:113286155 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.1078C>T (p.Arg360Cys) single nucleotide variant Dystonic disorder [RCV005186390] Chr11:113412616 [GRCh38]
Chr11:113283338 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1039C>T (p.Pro347Ser) single nucleotide variant Dystonic disorder [RCV005184127] Chr11:113412655 [GRCh38]
Chr11:113283377 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.475G>A (p.Val159Ile) single nucleotide variant Dystonic disorder [RCV005186658] Chr11:113416920 [GRCh38]
Chr11:113287642 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.528C>T (p.Asn176=) single nucleotide variant Dystonic disorder [RCV005141795] Chr11:113416867 [GRCh38]
Chr11:113287589 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.826G>C (p.Ala276Pro) single nucleotide variant Dystonic disorder [RCV005077026] Chr11:113412868 [GRCh38]
Chr11:113283590 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.1139-20G>A single nucleotide variant Dystonic disorder [RCV005142034] Chr11:113410940 [GRCh38]
Chr11:113281662 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.655C>T (p.Arg219Cys) single nucleotide variant Dystonic disorder [RCV005192643] Chr11:113415489 [GRCh38]
Chr11:113286211 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.532+15T>C single nucleotide variant Dystonic disorder [RCV005113625] Chr11:113416848 [GRCh38]
Chr11:113287570 [GRCh37]
Chr11:11q23.2		 likely benign
NM_000795.4(DRD2):c.955C>G (p.Pro319Ala) single nucleotide variant Dystonic disorder [RCV005149155] Chr11:113412739 [GRCh38]
Chr11:113283461 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.431C>T (p.Thr144Met) single nucleotide variant not specified [RCV005334256] Chr11:113416964 [GRCh38]
Chr11:113287686 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.103A>C (p.Asn35His) single nucleotide variant not specified [RCV005334257] Chr11:113424549 [GRCh38]
Chr11:113295271 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.929C>T (p.Pro310Leu) single nucleotide variant not specified [RCV005334254] Chr11:113412765 [GRCh38]
Chr11:113283487 [GRCh37]
Chr11:11q23.2		 uncertain significance
NM_000795.4(DRD2):c.182G>A (p.Arg61His) single nucleotide variant not specified [RCV005334255] Chr11:113424470 [GRCh38]
Chr11:113295192 [GRCh37]
Chr11:11q23.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5524
Count of miRNA genes:937
Interacting mature miRNAs:1146
Transcripts:ENST00000346454, ENST00000355319, ENST00000362072, ENST00000535984, ENST00000538967, ENST00000539420, ENST00000540600, ENST00000542616, ENST00000542968, ENST00000543292, ENST00000544518
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597581723GWAS1638583_Hamyloid-beta measurement QTL GWAS1638583 (human)0.000006serum amyloid protein amount (VT:0010037)11113421342113421343Human
597053584GWAS1149658_Hneuroticism measurement QTL GWAS1149658 (human)6e-16behavior trait (VT:0010442)11113436171113436172Human
597053585GWAS1149659_Hneuroticism measurement QTL GWAS1149659 (human)3e-11behavior trait (VT:0010442)11113441417113441418Human
597208848GWAS1304922_Hwellbeing measurement QTL GWAS1304922 (human)2e-08wellness/fitness trait (VT:1000152)11113420953113420954Human
597109469GWAS1205543_Hmathematical ability QTL GWAS1205543 (human)9e-12cognitive behavior trait (VT:0010450)11113429107113429108Human
597421527GWAS1517601_Hcognitive function measurement QTL GWAS1517601 (human)2e-08cognitive behavior trait (VT:0010450)11113432952113432953Human
407022415GWAS671391_Hshort-term memory QTL GWAS671391 (human)0.0000005learning/memory/conditioning trait (VT:0002063)11113439147113439148Human
597620365GWAS1677225_Hdepressive disorder QTL GWAS1677225 (human)1e-12depressive disorder11113448185113448186Human
406920597GWAS569573_Hunipolar depression, mood disorder QTL GWAS569573 (human)2e-09unipolar depression, mood disorder11113441417113441418Human
407039322GWAS688298_Hinformation processing speed QTL GWAS688298 (human)0.0000009cognitive behavior trait (VT:0010450)11113415768113415769Human
597185728GWAS1281802_Hsmoking cessation QTL GWAS1281802 (human)7e-16smoking cessation11113415768113415769Human
597185729GWAS1281803_Hsmoking cessation QTL GWAS1281803 (human)6e-16smoking cessation11113416107113416108Human
597201218GWAS1297292_Hneuroticism measurement QTL GWAS1297292 (human)0.000001behavior trait (VT:0010442)11113448158113448159Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597333766GWAS1429840_Hsmoking cessation QTL GWAS1429840 (human)9e-15smoking cessation11113415779113415780Human
597216133GWAS1312207_Hcigarettes per day measurement QTL GWAS1312207 (human)1e-09cigarettes per day measurement11113415779113415780Human
597128586GWAS1224660_Hmajor depressive disorder QTL GWAS1224660 (human)8e-11major depressive disorder11113448185113448186Human
597205127GWAS1301201_Hneuroticism measurement QTL GWAS1301201 (human)1e-09depression-related behavior trait (VT:0015015)11113420953113420954Human
597338491GWAS1434565_Hcannabis dependence QTL GWAS1434565 (human)2e-09cannabis dependence11113421604113421605Human
596950645GWAS1070164_Hmood disorder, major depressive disorder QTL GWAS1070164 (human)2e-09mood disorder, major depressive disorder11113441417113441418Human
597209019GWAS1305093_Hwellbeing measurement QTL GWAS1305093 (human)2e-09wellness/fitness trait (VT:1000152)11113420953113420954Human
597211579GWAS1307653_Htriglyceride measurement QTL GWAS1307653 (human)2e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)11113425897113425898Human
597144179GWAS1240253_Hsuicidal ideation, suicide behaviour QTL GWAS1240253 (human)3e-10behavior trait (VT:0010442)11113424276113424277Human
407214561GWAS863537_Hunipolar depression QTL GWAS863537 (human)8e-11unipolar depression11113448185113448186Human
597100274GWAS1196348_Hmajor depressive disorder QTL GWAS1196348 (human)3e-09major depressive disorder11113416107113416108Human
597188926GWAS1285000_Hcigarettes per day measurement QTL GWAS1285000 (human)1e-23cigarettes per day measurement11113463378113463379Human
597333053GWAS1429127_Hcigarettes per day measurement QTL GWAS1429127 (human)3e-18cigarettes per day measurement11113463487113463488Human
597188927GWAS1285001_Hcigarettes per day measurement QTL GWAS1285001 (human)5e-24cigarettes per day measurement11113463487113463488Human
407022382GWAS671358_Hatrial natriuretic factor measurement QTL GWAS671358 (human)0.000003atrial natriuretic factor measurementblood B-type natriuretic peptide level (CMO:0003868)11113425897113425898Human
597620274GWAS1677134_Hmajor depressive disorder QTL GWAS1677134 (human)4e-13major depressive disorder11113447983113447984Human
597338676GWAS1434750_Hbody mass index, osteoarthritis QTL GWAS1434750 (human)3e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)11113415779113415780Human
597318260GWAS1414334_Hexecutive function measurement QTL GWAS1414334 (human)1e-10cognitive behavior trait (VT:0010450)11113418344113418345Human
597107942GWAS1204016_Hmathematical ability QTL GWAS1204016 (human)5e-09cognitive behavior trait (VT:0010450)11113429188113429189Human
597240747GWAS1336821_Hattempted suicide QTL GWAS1336821 (human)6e-11behavior trait (VT:0010442)11113429107113429108Human
596973607GWAS1093126_Hmajor depressive disorder QTL GWAS1093126 (human)8e-11major depressive disorder11113448185113448186Human
597102308GWAS1198382_Hbipolar disorder QTL GWAS1198382 (human)0.0000004bipolar disorder11113447285113447286Human
597117600GWAS1213674_Hself reported educational attainment QTL GWAS1213674 (human)1e-09self reported educational attainment11113418315113418316Human
597232034GWAS1328108_Hsmoking cessation QTL GWAS1328108 (human)3e-11smoking cessation11113415779113415780Human
597071981GWAS1168055_Hworry measurement QTL GWAS1168055 (human)1e-09emotion/affect behavior trait (VT:0002572)11113416107113416108Human
597619941GWAS1676801_Hmood disorder QTL GWAS1676801 (human)2e-14behavior trait (VT:0010442)11113447983113447984Human
597614117GWAS1670977_Hsodium measurement QTL GWAS1670977 (human)6e-13blood sodium amount (VT:0001776)blood sodium level (CMO:0000499)11113447983113447984Human
597621026GWAS1677886_Hsubstance-related disorder QTL GWAS1677886 (human)1e-14substance-related disorder11113424276113424277Human
597051114GWAS1147188_Hmood disorder, major depressive disorder QTL GWAS1147188 (human)2e-09behavior trait (VT:0010442)11113441417113441418Human
597343653GWAS1439727_Hopioid use disorder QTL GWAS1439727 (human)6e-09conditioned place preference behavior trait (VT:0010723)11113418315113418316Human
597340709GWAS1436783_Hneuroticism measurement, cognitive function measurement QTL GWAS1436783 (human)1e-20behavior trait (VT:0010442)11113445380113445381Human

Markers in Region
GDB:182528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714104,071,931 - 104,072,552UniSTSGRCh37
GRCh3711113,283,192 - 113,283,645UniSTSGRCh37
Build 3611112,788,402 - 112,788,855RGDNCBI36
Celera11110,436,124 - 110,436,577RGD
Celera1484,126,180 - 84,126,806UniSTS
Cytogenetic Map11q23UniSTS
HuRef11109,211,641 - 109,212,094UniSTS
GDB:196340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,283,203 - 113,283,755UniSTSGRCh37
Build 3611112,788,413 - 112,788,965RGDNCBI36
Celera11110,436,135 - 110,436,687RGD
Cytogenetic Map11q23UniSTS
HuRef11109,211,652 - 109,212,204UniSTS
SHGC-148803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,344,908 - 113,345,229UniSTSGRCh37
Build 3611112,850,118 - 112,850,439RGDNCBI36
Celera11110,497,844 - 110,498,165RGD
Cytogenetic Map11q23UniSTS
HuRef11109,273,340 - 109,273,661UniSTS
TNG Radiation Hybrid Map914006.0UniSTS
PMC311033P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,283,404 - 113,283,584UniSTSGRCh37
Build 3611112,788,614 - 112,788,794RGDNCBI36
Celera11110,436,336 - 110,436,516RGD
Cytogenetic Map11q23UniSTS
HuRef11109,211,853 - 109,212,033UniSTS
DRD2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,287,615 - 113,288,849UniSTSGRCh37
GRCh3711113,287,696 - 113,288,813UniSTSGRCh37
GRCh3711113,290,134 - 113,290,211UniSTSGRCh37
Build 3611112,795,344 - 112,795,421RGDNCBI36
Celera11110,440,547 - 110,441,781UniSTS
Celera11110,443,066 - 110,443,147RGD
Celera11110,440,628 - 110,441,745UniSTS
Cytogenetic Map11q23UniSTS
HuRef11109,216,145 - 109,217,262UniSTS
HuRef11109,216,064 - 109,217,298UniSTS
Marshfield Genetic Map11105.17UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH11104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,287,587 - 113,287,758UniSTSGRCh37
Build 3611112,792,797 - 112,792,968RGDNCBI36
Celera11110,440,519 - 110,440,690RGD
Cytogenetic Map11q23UniSTS
HuRef11109,216,036 - 109,216,207UniSTS
GeneMap99-GB4 RH Map11373.38UniSTS
SGC31507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,295,141 - 113,295,350UniSTSGRCh37
Build 3611112,800,351 - 112,800,560RGDNCBI36
Celera11110,448,075 - 110,448,284RGD
Cytogenetic Map11q23UniSTS
HuRef11109,223,581 - 109,223,790UniSTS
TNG Radiation Hybrid Map11405.0UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
Whitehead-RH Map11513.8UniSTS
NCBI RH Map111009.2UniSTS
G10651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,280,360 - 113,280,478UniSTSGRCh37
Build 3611112,785,570 - 112,785,688RGDNCBI36
Celera11110,433,292 - 110,433,410RGD
Cytogenetic Map11q23UniSTS
HuRef11109,208,809 - 109,208,927UniSTS
MARC_13871-13872:1007494510:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711113,285,145 - 113,286,276UniSTSGRCh37
Build 3611112,790,355 - 112,791,486RGDNCBI36
Celera11110,438,077 - 110,439,208RGD
HuRef11109,213,594 - 109,214,725UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1187 2322 2749 2077 4867 1304 1788 333 876 174 2210 5609 5198 38 3694 706 1658 1345 168

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001440368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF437994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA693976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC295428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000346454   ⟹   ENSP00000278597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,409,615 - 113,475,120 (-)Ensembl
Ensembl Acc Id: ENST00000362072   ⟹   ENSP00000354859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,409,605 - 113,475,398 (-)Ensembl
Ensembl Acc Id: ENST00000535984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,414,375 - 113,424,507 (-)Ensembl
Ensembl Acc Id: ENST00000538967   ⟹   ENSP00000438215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,410,572 - 113,424,651 (-)Ensembl
Ensembl Acc Id: ENST00000539420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,415,294 - 113,418,117 (-)Ensembl
Ensembl Acc Id: ENST00000540600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,413,864 - 113,475,691 (-)Ensembl
Ensembl Acc Id: ENST00000542616   ⟹   ENSP00000441474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,424,630 - 113,475,279 (-)Ensembl
Ensembl Acc Id: ENST00000542968   ⟹   ENSP00000442172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,409,913 - 113,424,972 (-)Ensembl
Ensembl Acc Id: ENST00000543292   ⟹   ENSP00000438419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,416,863 - 113,447,721 (-)Ensembl
Ensembl Acc Id: ENST00000544518   ⟹   ENSP00000441068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11113,409,616 - 113,424,684 (-)Ensembl
RefSeq Acc Id: NM_000795   ⟹   NP_000786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,409,605 - 113,475,398 (-)NCBI
GRCh3711113,280,317 - 113,346,413 (-)NCBI
Build 3611112,785,527 - 112,851,091 (-)NCBI Archive
HuRef11109,208,766 - 109,274,420 (-)ENTREZGENE
CHM1_111113,163,302 - 113,228,980 (-)NCBI
T2T-CHM13v2.011113,420,107 - 113,485,882 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016574   ⟹   NP_057658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,409,605 - 113,475,398 (-)NCBI
GRCh3711113,280,317 - 113,346,413 (-)NCBI
Build 3611112,785,527 - 112,851,091 (-)NCBI Archive
HuRef11109,208,766 - 109,274,420 (-)ENTREZGENE
CHM1_111113,163,302 - 113,228,980 (-)NCBI
T2T-CHM13v2.011113,420,107 - 113,485,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017296   ⟹   XP_016872785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,409,605 - 113,474,736 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426511   ⟹   XP_047282467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,409,605 - 113,474,708 (-)NCBI
RefSeq Acc Id: XM_054367935   ⟹   XP_054223910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011113,420,107 - 113,485,220 (-)NCBI
RefSeq Acc Id: XM_054367936   ⟹   XP_054223911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011113,420,107 - 113,485,192 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000786 (Get FASTA)   NCBI Sequence Viewer  
  NP_001427297 (Get FASTA)   NCBI Sequence Viewer  
  NP_057658 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872785 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223910 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223911 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52328 (Get FASTA)   NCBI Sequence Viewer  
  AAA52761 (Get FASTA)   NCBI Sequence Viewer  
  AAA88023 (Get FASTA)   NCBI Sequence Viewer  
  AAA88024 (Get FASTA)   NCBI Sequence Viewer  
  AAB20571 (Get FASTA)   NCBI Sequence Viewer  
  AAB26274 (Get FASTA)   NCBI Sequence Viewer  
  AAB26819 (Get FASTA)   NCBI Sequence Viewer  
  AAC78779 (Get FASTA)   NCBI Sequence Viewer  
  AAF61479 (Get FASTA)   NCBI Sequence Viewer  
  AAH21195 (Get FASTA)   NCBI Sequence Viewer  
  BAC06078 (Get FASTA)   NCBI Sequence Viewer  
  BAD93069 (Get FASTA)   NCBI Sequence Viewer  
  BAG70294 (Get FASTA)   NCBI Sequence Viewer  
  CAA35746 (Get FASTA)   NCBI Sequence Viewer  
  CAB37869 (Get FASTA)   NCBI Sequence Viewer  
  CAB56463 (Get FASTA)   NCBI Sequence Viewer  
  CBJ06538 (Get FASTA)   NCBI Sequence Viewer  
  EAW67219 (Get FASTA)   NCBI Sequence Viewer  
  EAW67220 (Get FASTA)   NCBI Sequence Viewer  
  EAW67221 (Get FASTA)   NCBI Sequence Viewer  
  EAW67222 (Get FASTA)   NCBI Sequence Viewer  
  EAW67223 (Get FASTA)   NCBI Sequence Viewer  
  EAW67224 (Get FASTA)   NCBI Sequence Viewer  
  EAW67225 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278597
  ENSP00000278597.5
  ENSP00000354859
  ENSP00000354859.3
  ENSP00000438215.1
  ENSP00000442172.1
GenBank Protein P14416 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057658   ⟸   NM_016574
- Peptide Label: isoform short
- UniProtKB: B5BUP4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000786   ⟸   NM_000795
- Peptide Label: isoform long
- UniProtKB: Q9NZR3 (UniProtKB/Swiss-Prot),   Q9UPA9 (UniProtKB/Swiss-Prot),   P14416 (UniProtKB/Swiss-Prot),   Q59EH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872785   ⟸   XM_017017296
- Peptide Label: isoform X1
- UniProtKB: Q9NZR3 (UniProtKB/Swiss-Prot),   Q9UPA9 (UniProtKB/Swiss-Prot),   P14416 (UniProtKB/Swiss-Prot),   Q59EH9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000441474   ⟸   ENST00000542616
Ensembl Acc Id: ENSP00000442172   ⟸   ENST00000542968
Ensembl Acc Id: ENSP00000278597   ⟸   ENST00000346454
Ensembl Acc Id: ENSP00000438419   ⟸   ENST00000543292
Ensembl Acc Id: ENSP00000441068   ⟸   ENST00000544518
Ensembl Acc Id: ENSP00000354859   ⟸   ENST00000362072
Ensembl Acc Id: ENSP00000438215   ⟸   ENST00000538967
RefSeq Acc Id: XP_047282467   ⟸   XM_047426511
- Peptide Label: isoform X2
- UniProtKB: B5BUP4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223910   ⟸   XM_054367935
- Peptide Label: isoform X1
- UniProtKB: Q9NZR3 (UniProtKB/Swiss-Prot),   P14416 (UniProtKB/Swiss-Prot),   Q9UPA9 (UniProtKB/Swiss-Prot),   Q59EH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223911   ⟸   XM_054367936
- Peptide Label: isoform X2
- UniProtKB: B5BUP4 (UniProtKB/TrEMBL)
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14416-F1-model_v2 AlphaFold P14416 1-443 view protein structure

Promoters
RGD ID:7222159
Promoter ID:EPDNEW_H16825
Type:single initiation site
Name:DRD2_2
Description:dopamine receptor D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16826  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,467,540 - 113,467,600EPDNEW
RGD ID:7222161
Promoter ID:EPDNEW_H16826
Type:initiation region
Name:DRD2_1
Description:dopamine receptor D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16825  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811113,475,398 - 113,475,458EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3023 AgrOrtholog
COSMIC DRD2 COSMIC
Ensembl Genes ENSG00000149295 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000346454 ENTREZGENE
  ENST00000346454.7 UniProtKB/Swiss-Prot
  ENST00000362072 ENTREZGENE
  ENST00000362072.8 UniProtKB/Swiss-Prot
  ENST00000538967.5 UniProtKB/Swiss-Prot
  ENST00000542968.5 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000149295 GTEx
HGNC ID HGNC:3023 ENTREZGENE
Human Proteome Map DRD2 Human Proteome Map
InterPro Dopamine_D2_rcpt UniProtKB/Swiss-Prot
  Dopamine_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:1813 UniProtKB/Swiss-Prot
NCBI Gene 1813 ENTREZGENE
OMIM 126450 OMIM
PANTHER ADRENERGIC RECEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot
  D(2) DOPAMINE RECEPTOR UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB DRD2 RGD, PharmGKB
PRINTS DOPAMINED2R UniProtKB/Swiss-Prot
  DOPAMINER UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt A0A1Y8EK52_HUMAN UniProtKB/TrEMBL
  A0A220XIT2_HUMAN UniProtKB/TrEMBL
  B5BUP4 ENTREZGENE, UniProtKB/TrEMBL
  DRD2_HUMAN UniProtKB/Swiss-Prot
  F8VUV1 ENTREZGENE, UniProtKB/TrEMBL
  P14416 ENTREZGENE
  Q59EH9 ENTREZGENE, UniProtKB/TrEMBL
  Q6LDH7_HUMAN UniProtKB/TrEMBL
  Q9NZR3 ENTREZGENE
  Q9UPA9 ENTREZGENE
UniProt Secondary Q9NZR3 UniProtKB/Swiss-Prot
  Q9UPA9 UniProtKB/Swiss-Prot