Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1815
Gene name	Dopamine receptor D4
Gene symbol	DRD4
Synonyms (NCBI Gene)	D4DR
Chromosome	11
Chromosome location	11p15.5
Summary	This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associate

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776842	GCCGACCTCCTCC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022474	hsa-miR-124-3p	Microarray	18668037
MIRT2519495	hsa-miR-125a-5p	CLIP-seq
MIRT2519496	hsa-miR-125b	CLIP-seq
MIRT2519497	hsa-miR-133a	CLIP-seq
MIRT2519498	hsa-miR-133b	CLIP-seq
MIRT2519499	hsa-miR-3187-3p	CLIP-seq
MIRT2519500	hsa-miR-3189-3p	CLIP-seq
MIRT2519501	hsa-miR-4281	CLIP-seq
MIRT2519502	hsa-miR-4319	CLIP-seq
MIRT2519503	hsa-miR-4529-5p	CLIP-seq
MIRT2519504	hsa-miR-4649-3p	CLIP-seq
MIRT2519505	hsa-miR-4732-3p	CLIP-seq
MIRT2519506	hsa-miR-544b	CLIP-seq
MIRT2519507	hsa-miR-670	CLIP-seq
MIRT2519495	hsa-miR-125a-5p	CLIP-seq
MIRT2519496	hsa-miR-125b	CLIP-seq
MIRT2519497	hsa-miR-133a	CLIP-seq
MIRT2519498	hsa-miR-133b	CLIP-seq
MIRT2519499	hsa-miR-3187-3p	CLIP-seq
MIRT2519500	hsa-miR-3189-3p	CLIP-seq
MIRT2519501	hsa-miR-4281	CLIP-seq
MIRT2519502	hsa-miR-4319	CLIP-seq
MIRT2519503	hsa-miR-4529-5p	CLIP-seq
MIRT2519504	hsa-miR-4649-3p	CLIP-seq
MIRT2519505	hsa-miR-4732-3p	CLIP-seq
MIRT2519506	hsa-miR-544b	CLIP-seq
MIRT2519507	hsa-miR-670	CLIP-seq

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	1840645, 9003072
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IEA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IMP	27659709
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS
GO:0001662	Process	Behavioral fear response	NAS	12860355
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0001975	Process	Response to amphetamine	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004952	Function	Dopamine neurotransmitter receptor activity	IDA	8413587
GO:0004952	Function	Dopamine neurotransmitter receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	12297500, 32814053
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8413587, 9003072, 9843378, 15755724, 20531939, 27659709
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	7921596
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	7512953, 9003072, 9843378
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	27659709
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0015459	Function	Potassium channel regulator activity	NAS	12297500
GO:0016020	Component	Membrane	IDA	7512953
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	IDA	9843378
GO:0030425	Component	Dendrite	IBA
GO:0030534	Process	Adult behavior	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA
GO:0034776	Process	Response to histamine	IDA	16839358
GO:0035176	Process	Social behavior	NAS	11126393, 11409696
GO:0035240	Function	Dopamine binding	IDA	1319557, 9003072
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	ISS
GO:0042596	Process	Fear response	IEA
GO:0042596	Process	Fear response	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042802	Function	Identical protein binding	IPI	21184734, 21320289
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9843378
GO:0046872	Function	Metal ion binding	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0048149	Process	Behavioral response to ethanol	TAS	12888781
GO:0048511	Process	Rhythmic process	IEA
GO:0050482	Process	Arachidonate secretion	IDA	7512953
GO:0050709	Process	Negative regulation of protein secretion	IDA	16839358
GO:0051049	Process	Regulation of transport	IEA
GO:0051379	Function	Epinephrine binding	IDA	9003072
GO:0051380	Function	Norepinephrine binding	IDA	9003072
GO:0051586	Process	Positive regulation of dopamine uptake involved in synaptic transmission	IC	1840645
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IDA	1840645
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

MIM	HGNC	e!Ensembl
126452	3025	ENSG00000069696

P21917

Protein name

D(4) dopamine receptor (D(2C) dopamine receptor) (Dopamine D4 receptor)

Protein function

Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synt

PDB

5WIU , 5WIV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	51 → 400	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in retina. Detected at much lower levels in brain, in amygdala, thalamus, hypothalamus, cerebellum and pituitary. {ECO:0000269|PubMed:7769992}.

Sequence

MGNRSTADADGLLAGRGPAAGASAGASAGLAGQGAAALVGGVLLIGAVLAGNSLVCVSVA
TERALQTPTNSFIVSLAAADLLLALLVLPLFVYSEVQGGAWLLSPRLCDALMAMDVMLCT
ASIFNLCAISVDRFVAVAVPLRYNRQGGSRRQLLLIGATWLLSAAVAAPVLCGLNDVRGR
DPAVCRLEDRDYVVYSSVCSFFLPCPLMLLLYWATFRGLQRWEVARRAKLHGRAPRRPSG
PGPPSPTPPAPRLPQDPCGPDCAPPAPGLPRGPCGPDCAPAAPSLPQDPCGPDCAPPAPG
LPPDPCGSNCAPPDAVRAAALPPQTPPQTRRRRRAKITGRERKAMRVLPVVVGAFLLCWT
PFFVVHITQALCPACSVPPRLVSAVTWLGYVNSALNPVIYTVFNAEFRNVFRKALRACC

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling Dopaminergic synapse		Dopamine receptors G alpha (i) signalling events

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary attention deficit-hyperactivity disorder	Likely pathogenic	rs750696928	RCV003990291

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION	Benign; Likely benign	rs587776842	RCV000018254
Colon adenocarcinoma	Benign	rs201878429	RCV005935474
DRD4 POLYMORPHISM	Benign	rs1800443	RCV000018255
DRD4-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs769762387, rs537247984, rs530519660, rs34662058, rs1858084925, rs370549757, rs587776842, rs115232659, rs146562378, rs750129422, rs201878429, rs529779269, rs199815231, rs199869206, rs145562859 View all (9 more)	RCV003931211 RCV003900908 RCV003919022 RCV003966300 RCV003394343 RCV003966351 RCV005357136 RCV003907007 RCV003914695 RCV003929798 RCV003979381 RCV003909828 RCV003933961 RCV003961667 RCV003917196 RCV003944528 RCV003932320 RCV003949261 RCV003981898 RCV003962421 RCV003936087 RCV003930674 RCV003892160 RCV003913180
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	rs767239460, rs201878429, rs752533625	RCV005930815 RCV005935476 RCV005937455
Sarcoma	Benign	rs201878429	RCV005935475
Thymoma	Benign	rs201878429	RCV005935477

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36103249
Alcoholism	Associate	22848508, 25244120
Antisocial Personality Disorder	Associate	23891037
Anxiety	Associate	19209222, 23314010, 33784353, 34828440
Anxiety Disorders	Associate	20600463, 33784353
Anxiety Separation	Associate	20600463
Asthma	Associate	36841266
Astrocytoma	Associate	19653907
Atrophy	Associate	31003069
Attention Deficit and Disruptive Behavior Disorders	Associate	19017022, 20600463
Attention Deficit Disorder with Hyperactivity	Associate	10654656, 10781080, 11756666, 11923911, 12808433, 15077199, 15892149, 16380908, 16849269, 16894395, 17705902, 17886261, 18023044, 18094258, 19017022 View all (35 more)
Autism Spectrum Disorder	Associate	20600463, 36750796
Autistic Disorder	Associate	15892149
Bipolar Disorder	Associate	27063557, 28751646
Borderline Personality Disorder	Associate	20205808
Brain Injuries Traumatic	Associate	32108714
Breast Neoplasms	Stimulate	25556472
Bulimia Nervosa	Associate	20336060
Cerebral Infarction	Associate	37268894
Cognition Disorders	Associate	26307064
Colorectal Neoplasms	Associate	36345155
Conduct Disorder	Associate	17705902
Cumulative Trauma Disorders	Associate	31003069
Cutaneous Fistula	Associate	17146015
Depressive Disorder	Associate	34828440
Depressive Disorder Major	Associate	34828440, 39312335
Diabetes Mellitus Type 1	Associate	37080173
Disorders of Sex Development	Associate	26717573
Disruptive Impulse Control and Conduct Disorders	Associate	22024001, 22345368, 22848508, 25896831, 28948080
Dyskinesia Drug Induced	Associate	15383158
Dyslexia	Associate	37667328
Dyslipidemias	Associate	37080173
Frontotemporal Dementia	Associate	31003069
Glycogen Storage Disease Type IV	Associate	16894395
Heart Diseases	Associate	26307064
HIV Infections	Associate	26307064, 37376663
Hyperkinesis	Associate	24391992
Hypertensive Retinopathy	Associate	37080173
Hypoxia	Stimulate	19653907
Inflammation	Associate	36841266, 37080173
Infratentorial Neoplasms	Associate	30514397
Lymphoblastic Transformation Inhibition of	Associate	23314010
Mental Disorders	Associate	12366871, 15985158, 16723017, 20205808, 22691691, 25107677, 25659462, 31378722, 33784353
Mood Disorders	Associate	30991630
Neoplasms	Associate	23128675
Nerve Degeneration	Associate	31003069
Neuroblastoma	Associate	19653907
Neurodegenerative Diseases	Associate	31003069
Neurologic Manifestations	Associate	25107677
Nocturnal Enuresis	Associate	28450726
Obesity	Associate	20336060, 22848508, 23653272, 24153108, 30991630, 32589693
Obesity Abdominal	Inhibit	26808524
Obsessive Compulsive Disorder	Associate	20600463
Parkinson Disease	Associate	25896831, 35532648
Personality Disorders	Associate	15985158
Schizophrenia	Associate	18094258
Seasonal Affective Disorder	Associate	20336060
Substance Related Disorders	Associate	19209222, 22345368, 25107677, 30387076, 34828440
Temporomandibular Joint Disorders	Associate	21615938
Tics	Associate	20600463, 8751866
Tourette Syndrome	Associate	8751866
Weight Gain	Associate	20336060, 24283216

DRD4 (dopamine receptor D4)