Human Gene DRD2 (ENST00000542968.5) Description and Page Index

Description: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (By similarity). (from UniProt P14416)
Gencode Transcript: ENST00000542968.5
Gencode Gene: ENSG00000149295.14
Transcript (Including UTRs)
Position: hg38 chr11:113,409,913-113,424,972 Size: 15,060 Total Exon Count: 7 Strand: -
Coding Region
Position: hg38 chr11:113,410,727-113,424,651 Size: 13,925 Coding Exon Count: 7

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: DRD2_HUMAN DESCRIPTION: RecName: Full=D(2) dopamine receptor; AltName: Full=Dopamine D2 receptor; FUNCTION: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (By similarity). SUBUNIT: 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. INTERACTION: P29274:ADORA2A; NbExp=2; IntAct=EBI-2928178, EBI-2902702; 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. DISEASE: Defects in DRD2 are associated with dystonia type 11 (DYT11) [MIM:159900]; 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. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DRD2";