DRD3 (dopamine receptor D3)

Gene

• Entrez ID: 1814
• Gene name: Dopamine receptor D3
• Gene symbol: DRD3
• Synonyms: D3DR, ETM1, FET1
• Chromosome: 3
• Chromosome location: 3q13.31
• Summary: This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6280	C>T	Risk-factor, benign, likely-benign	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029658	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IBA	21873635
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	8301582
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002031	Process	G protein-coupled receptor internalization	IDA	18424554
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10692483, 16386234, 18424554, 26460884
GO:0005886	Component	Plasma membrane	IDA	16386234, 18424554, 20531939
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IC	8301582
GO:0005887	Component	Integral component of plasma membrane	IDA	8413587
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	7911712
GO:0006914	Process	Autophagy	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	7911712
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IDA	18424554
GO:0007194	Process	Negative regulation of adenylate cyclase activity	IBA	21873635
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA	21873635
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	7907363, 8666994, 18424554
GO:0007611	Process	Learning or memory	NAS	14681904
GO:0007612	Process	Learning	NAS	15998189
GO:0007626	Process	Locomotory behavior	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008542	Process	Visual learning	ISS
GO:0014059	Process	Regulation of dopamine secretion	IBA	21873635
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0031748	Function	D1 dopamine receptor binding	IEA
GO:0032416	Process	Negative regulation of sodium:proton antiporter activity	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0034776	Process	Response to histamine	IDA	16839358
GO:0035176	Process	Social behavior	NAS	12860355
GO:0035483	Process	Gastric emptying	IEA
GO:0035815	Process	Positive regulation of renal sodium excretion	IEA
GO:0042220	Process	Response to cocaine	IEP	10415668
GO:0042417	Process	Dopamine metabolic process	IC	8301582
GO:0042493	Process	Response to drug	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043266	Process	Regulation of potassium ion transport	IBA	21873635
GO:0043278	Process	Response to morphine	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0045187	Process	Regulation of circadian sleep/wake cycle, sleep	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0045776	Process	Negative regulation of blood pressure	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046717	Process	Acid secretion	ISS
GO:0048148	Process	Behavioral response to cocaine	IEP	8815892
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0050482	Process	Arachidonic acid secretion	IDA	8301582
GO:0050709	Process	Negative regulation of protein secretion	IDA	16839358
GO:0050883	Process	Musculoskeletal movement, spinal reflex action	ISS
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0051482	Process	Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IBA	21873635
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IC	8301582
GO:0051898	Process	Negative regulation of protein kinase B signaling	ISS
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0060134	Process	Prepulse inhibition	IMP	18325483
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IBA	21873635
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	ISS
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA	21873635
GO:0090325	Process	Regulation of locomotion involved in locomotory behavior	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099061	Component	Integral component of postsynaptic density membrane	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	IBA	21873635

Other IDs

• MIM: 126451
• HGNC: 3024
• e!Ensembl: ENSG00000151577

Protein

• UniProt ID: P35462
• Protein name: D(3) dopamine receptor (Dopamine D3 receptor)
• Protein function: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation.
• PDB: 3PBL, 7CMU, 7CMV, 8IRT, 9F33, 9F34
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	46 → 383	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MASLSQLSSHLNYTCGAENSTGASQARPHAYYALSYCALILAIVFGNGLVCMAVLKERAL
  QTTTNYLVVSLAVADLLVATLVMPWVVYLEVTGGVWNFSRICCDVFVTLDVMMCTASILN
  LCAISIDRYTAVVMPVHYQHGTGQSSCRRVALMITAVWVLAFAVSCPLLFGFNTTGDPTV
  CSISNPDFVIYSSVVSFYLPFGVTVLVYARIYVVLKQRRRKRILTRQNSQCNSVRPGFPQ
  QTLSPDPAHLELKRYYSICQDTALGGPGFQERGGELKREEKTRNSLSPTIAPKLSLEVRK
  LSNGRLSTSLKLGPLQPRGVPLREKKATQMVAIVLGAFIVCWLPFFLTHVLNTHCQTCHV
  SPELYSATTWLGYVNSALNPVIYTTFNIEFRKAFLKILSC

• Sequence length: 400

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Dopaminergic synapse

Reactome:

Dopamine receptors
G alpha (i) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	19058789
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	10523822
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	18566292
Tourette syndrome	Gilles de la Tourette syndrome	rs193302861, rs191284403, rs267606861	10523822
Tremor	TREMOR, HEREDITARY ESSENTIAL, 1	rs387907274, rs763485258, rs551348450

Unknown
Disease name	Disease term	dbSNP ID	References
Basal ganglia diseases	Basal Ganglia Diseases		19506579
Bipolar disorder	Bipolar Disorder		19647327, 17239488, 22877924, 16969276, 24021960
Clonic seizures	Clonic Seizures		18566292
Cognitive disorder	Cognition Disorders		15619116
Delirium	Delirium		8750359, 19309018
Delusions	Delusions
Dysarthria	Dysarthria
Dyskinesia	Dyskinesia, Drug-Induced		20945430
Extrapyramidal disease	Extrapyramidal Disorders		19506579
Hallucinations	Hallucinations
Hereditary essential tremor	NON RARE IN EUROPE: Hereditary essential tremor	rs886057789, rs200825904, rs199852439, rs75091114, rs886057790, rs201561838, rs886057788, rs200206712, rs201872343, rs886057791
Hypotonic seizures	Epileptic drop attack		18566292
Impulse control disorder	Disruptive, Impulse Control, and Conduct Disorders		17332411, 19940168, 20671181
Intermittent explosive disorder	Intermittent Explosive Disorder		19940168, 20671181, 17332411
Jacksonian seizure	Jacksonian Seizure		18566292
Lenticulostriate disorders	Lenticulostriate Disorders		19506579
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Recurrent depression, Major Depressive Disorder	rs587778876, rs587778877	17851196, 21630437, 19235789, 23357086, 20685009, 21630437, 23357086, 20685009, 19235789, 17851196, 21630437, 21680027, 22093107, 16583407, 24927283, 8509522, 22093107, 21680027, 21630437, 16583407, 24927283
Mood disorder	Mood Disorders		10909128, 10760558, 10697826, 7972571
Movement disorders	Movement Disorders		12535962
Status marmoratus	Etat Marbre		12535962