Dopamine D2 Receptor (D2R) ELISA Kit for Mouse

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]

Function: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase

By similarity. Ref.17

Subunit structure: Forms homo- and heterooligomers with DRD4. The interaction with DRD4 may modulate agonist-induced downstream signaling. Interacts with GPRASP1, PPP1R9B and CLIC6

By similarity. Interacts with CADPS and CADPS2. Interacts with ARRB2

By similarity. Interacts with GNAI1. Interacts with GNAI2 isoform sGi2, the interaction allows the creation of an intracellular pool of DRD2 that can be released to cell surface upon agonist stimulation. Ref.14 Ref.15 Ref.16 Ref.17

Subcellular location: Cell membrane; Multi-pass membrane protein.

Polymorphism: Genetic variations in DRD2 may determine the genetic susceptibility to alcoholism [

MIM:103780]. Genetic variations in DRD2 might be a protective factor against the development of withdrawal symptoms but might also be a risk factor in a highly burdened subgroup of alcoholics with a paternal and grandpaternal history of alcoholism and might contribute to suicide risk in alcoholics.

Involvement in disease: Dystonia 11 (DYT11) [MIM:159900]: 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.Note: The gene represented in this entry may be involved in disease pathogenesis. DRD2 mutations in myoclonic dystonia patients are rare, and their contribution to disease phenotype is unclear (Ref.22). Ref.20 Ref.22

Sequence similarities: Belongs to the G-protein coupled receptor 1 family.