Dopamine Receptor D2 (DRD2) ELISA Kit for Human

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, multi-pass; GPCR, family 1; Receptor, GPCR; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q23

Cellular Component: synaptic vesicle membrane; axon; integral to plasma membrane; endocytic vesicle; postsynaptic density; dendrite; dendritic spine; acrosome; plasma membrane; perikaryon; nerve terminal; lateral plasma membrane

Molecular Function: dopamine D2 receptor-like receptor activity; identical protein binding; ionotropic glutamate receptor binding; protein binding; potassium channel regulator activity; protein homodimerization activity; protein heterodimerization activity; dopamine binding; drug binding

Biological Process: response to nicotine; elevation of cytosolic calcium ion concentration during G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); positive regulation of dopamine uptake; prepulse inhibition; response to toxin; positive regulation of receptor internalization; regulation of phosphoprotein phosphatase activity; thermoregulation; positive regulation of multicellular organism growth; adult walking behavior; dopamine metabolic process; negative regulation of insulin secretion; dopamine receptor, adenylate cyclase inhibiting pathway; protein localization; negative regulation of blood pressure; phosphatidylinositol metabolic process; response to drug; response to inactivity; response to light stimulus; positive regulation of neuroblast proliferation; cerebral cortex GABAergic interneuron migration; negative regulation of synaptic transmission, glutamatergic; regulation of sodium ion transport; arachidonic acid secretion; regulation of synaptic transmission, GABAergic; positive regulation of growth hormone secretion; G-protein coupled receptor internalization; reduction of cytosolic calcium ion concentration; activation of protein kinase activity; positive regulation of transcription from RNA polymerase II promoter; regulation of long-term neuronal synaptic plasticity; synaptic transmission, dopaminergic; peristalsis; branching morphogenesis of a nerve; negative regulation of circadian sleep/wake cycle, sleep; response to morphine; locomotory behavior; behavioral response to ethanol; orbitofrontal cortex development; negative regulation of cell proliferation; synaptogenesis; behavioral response to cocaine; adenohypophysis development; visual learning; nerve-nerve synaptic transmission; feeding behavior; response to axon injury; circadian regulation of gene expression; negative regulation of dopamine secretion; negative regulation of cell migration; response to iron ion; associative learning; grooming behavior; positive regulation of cytokinesis; negative regulation of protein secretion; negative regulation of protein kinase B signaling cascade; Wnt receptor signaling pathway; striatum development; regulation of heart rate; regulation of cAMP metabolic process; regulation of potassium ion transport; sensory perception of smell; negative regulation of adenylate cyclase activity; response to amphetamine; regulation of dopamine uptake; auditory behavior; response to cocaine; cellular calcium ion homeostasis; regulation of systemic arterial blood pressure by neurological process; negative regulation of dopamine receptor signaling pathway; long-term memory; axonogenesis; pigmentation; release of sequestered calcium ion into cytosol; positive regulation of G-protein coupled receptor protein signaling pathway; response to hypoxia; regulation of synapse structural plasticity; dopamine receptor, phospholipase C activating pathway

Disease: Myoclonic Dystonia