Dopamine Receptor D2 (D2R/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, integral; GPCR, family 1; Membrane protein, multi-pass; Receptor, GPCR

Chromosomal Location of Human Ortholog: 11q23

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

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

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

Disease: Myoclonic Dystonia