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DRD2 Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Defects in DRD2 are associated with dystonia type 11 (DYT11); also known as alcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. Belongs to the G-protein coupled receptor 1 family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: GPCR, family 1; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCR
Chromosomal Location of Human Ortholog: 11q23.2
Cellular Component: axon; dendrite; integral to plasma membrane; plasma membrane; synaptic vesicle membrane
Molecular Function: adrenoceptor activity; dopamine binding; dopamine D2 receptor-like receptor activity; drug binding; identical protein binding; protein binding
Biological Process: adenohypophysis development; adult walking behavior; arachidonic acid secretion; associative learning; axonogenesis; behavioral response to cocaine; behavioral response to ethanol; branching morphogenesis of a nerve; cerebral cortex GABAergic interneuron migration; circadian regulation of gene expression; dopamine metabolic process; dopamine receptor, adenylate cyclase inhibiting pathway; dopamine receptor, phospholipase C activating pathway; locomotory behavior; negative regulation of adenylate cyclase activity; negative regulation of blood pressure; negative regulation of cell migration; negative regulation of cell proliferation; negative regulation of dopamine receptor signaling pathway; negative regulation of protein kinase B signaling cascade; negative regulation of protein secretion; negative regulation of synaptic transmission, glutamatergic; nerve-nerve synaptic transmission; peristalsis; phosphatidylinositol metabolic process; positive regulation of cytokinesis; positive regulation of dopamine uptake; positive regulation of growth hormone secretion; positive regulation of neuroblast proliferation; prepulse inhibition; protein localization; reduction of cytosolic calcium ion concentration; regulation of cAMP metabolic process; regulation of dopamine secretion; regulation of dopamine uptake; regulation of heart rate; regulation of long-term neuronal synaptic plasticity; regulation of potassium ion transport; regulation of sodium ion transport; regulation of synaptic transmission, GABAergic; regulation of systemic arterial blood pressure by neurological process; release of sequestered calcium ion into cytosol; response to amphetamine; response to cocaine; response to drug; response to light stimulus; response to morphine; response to toxin; sensory perception of smell; synaptic transmission, dopaminergic; synaptogenesis; thermoregulation; visual learning
Disease: Myoclonic Dystonia
Reference #:  P14416 (UniProtKB)
Alt. Names/Synonyms: D(2) dopamine receptor; D2DR; D2R; Dopamine D2 receptor; dopamine receptor D2; dopamine receptor D2 isoform; DRD2
Gene Symbols: DRD2
Molecular weight: 50,619 Da
Basal Isoelectric point: 9.55  Predict pI for various phosphorylation states
CST Pathways:  Parkinson's Disease
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