Human Gene DRD2 (ENST00000362072.8) from GENCODE V44
Description: Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. (from RefSeq NM_000795) RefSeq Summary (NM_000795): 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]. Gencode Transcript: ENST00000362072.8 Gencode Gene: ENSG00000149295.14 Transcript (Including UTRs) Position: hg38 chr11:113,409,605-113,475,398 Size: 65,794 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr11:113,410,727-113,424,651 Size: 13,925 Coding Exon Count: 7
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";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P14416
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
