• Gene id: 1815

Gene Summary

• Gene Symbol: DRD4   Gene   UCSC   Ensembl
• Aliases: D4DR
• Gene name: dopamine receptor D4
• Alternate names: D(4) dopamine receptor, D(2C) dopamine receptor, dopamine D4 receptor, seven transmembrane helix receptor,
• Gene location: 11p15.5 (637268: 640705)     Exons: 4     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 615213

Protein Summary

• Protein general information: P21917  
  • Name: D(4) dopamine receptor (D(2C) dopamine receptor) (Dopamine D4 receptor)
  • Length: 419  
  • Mass: 43901
  • Tissue specificity: Highly expressed in retina. Detected at much lower levels in brain, in amygdala, thalamus, hypothalamus, cerebellum and pituitary. {ECO
• Sequence:

  MGNRSTADADGLLAGRGPAAGASAGASAGLAGQGAAALVGGVLLIGAVLAGNSLVCVSVATERALQTPTNSFIVS
  LAAADLLLALLVLPLFVYSEVQGGAWLLSPRLCDALMAMDVMLCTASIFNLCAISVDRFVAVAVPLRYNRQGGSR
  RQLLLIGATWLLSAAVAAPVLCGLNDVRGRDPAVCRLEDRDYVVYSSVCSFFLPCPLMLLLYWATFRGLQRWEVA
  RRAKLHGRAPRRPSGPGPPSPTPPAPRLPQDPCGPDCAPPAPGLPRGPCGPDCAPAAPSLPQDPCGPDCAPPAPG
  LPPDPCGSNCAPPDAVRAAALPPQTPPQTRRRRRAKITGRERKAMRVLPVVVGAFLLCWTPFFVVHITQALCPAC
  SVPPRLVSAVTWLGYVNSALNPVIYTVFNAEFRNVFRKALRACC

• Structural information:
  • Interpro: IPR002185  IPR000929  IPR000276  IPR017452  
  • Prosite: PS00237 PS50262
  • PDB: 5WIU 5WIV
  • PDBsum: 5WIU 5WIV
  • DIP: 59865
• Other Databases: GeneCards:  DRD4  Malacards:  DRD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0004993	G protein-coupled serotonin receptor activity	IBA	molecular function
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0051379	epinephrine binding	IDA	molecular function
GO:0051380	norepinephrine binding	IDA	molecular function
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	biological process
GO:0035240	dopamine binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	IMP	molecular function
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA	biological process
GO:0004952	dopamine neurotransmitter receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0048148	behavioral response to cocaine	IEA	biological process
GO:0042596	fear response	IEA	biological process
GO:0042053	regulation of dopamine metabolic process	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0060080	inhibitory postsynaptic potential	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	IEA	molecular function
GO:0004952	dopamine neurotransmitter receptor activity	IDA	molecular function
GO:0017124	SH3 domain binding	IDA	molecular function
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0035240	dopamine binding	IDA	molecular function
GO:0001591	dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015459	potassium channel regulator activity	NAS	molecular function
GO:0000187	activation of MAPK activity	IDA	biological process
GO:0000187	activation of MAPK activity	IDA	biological process
GO:0006874	cellular calcium ion homeostasis	IC	biological process
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	biological process
GO:0007212	dopamine receptor signaling pathway	IDA	biological process
GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	biological process
GO:0033674	positive regulation of kinase activity	IDA	biological process
GO:0042417	dopamine metabolic process	IC	biological process
GO:0051586	positive regulation of dopamine uptake involved in synaptic transmission	IC	biological process
GO:1901386	negative regulation of voltage-gated calcium channel activity	IDA	biological process
GO:0001662	behavioral fear response	NAS	biological process
GO:0001975	response to amphetamine	ISS	biological process
GO:0008344	adult locomotory behavior	ISS	biological process
GO:0035176	social behavior	NAS	biological process
GO:0035176	social behavior	NAS	biological process
GO:0042053	regulation of dopamine metabolic process	ISS	biological process
GO:0042596	fear response	ISS	biological process
GO:0048148	behavioral response to cocaine	ISS	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0032417	positive regulation of sodium:proton antiporter activity	IDA	biological process
GO:0034776	response to histamine	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0050709	negative regulation of protein secretion	IDA	biological process
GO:0048149	behavioral response to ethanol	TAS	biological process
GO:0060080	inhibitory postsynaptic potential	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0098664	G protein-coupled serotonin receptor signaling pathway	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04728	Dopaminergic synapse

Diseases

Associated diseases	References
Obsessive-compulsive disorder	KEGG:H01450
Attention deficit hyperactivity disorder	KEGG:H01895
Neurosis	KEGG:H01671
Obsessive-compulsive disorder	KEGG:H01450
Attention deficit hyperactivity disorder	KEGG:H01895
Neurosis	KEGG:H01671
Intellectual disability	PMID:22366260
Alzheimer's disease	PMID:17182012
Antisocial personality disorder	PMID:17587443
Attention deficit hyperactivity disorder	PMID:17679637
Gilles de la Tourette syndrome	PMID:25258183
Conduct disorder	PMID:17587443
Dyslexia	PMID:14755455
Schizophrenia	PMID:8413587
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq