DRD2

Gene Information
 
Gene Symbol
DRD2
 
Aliases
D2DR, D2R
 
Entrez Gene ID
 
Gene Name
Dopamine receptor D2
 
Chromosomal Location
11q22-q23
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006874 Biological process Cellular calcium ion homeostasis IC 7921596
GO:0030814 Biological process Regulation of cAMP metabolic process IDA 8666994
GO:0034776 Biological process Response to histamine IDA 16839358
GO:0035556 Biological process Intracellular signal transduction IDA 1331329
GO:0042417 Biological process Dopamine metabolic process IC 8301582
Protein Information
 
Protein Name
D(2) dopamine receptor
 
Function
Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (By similarity)
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00001 7tm_1 7 transmembrane receptor (rhodopsin family)
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Aggressive behavior 9779662, 16325649, 15964153
Alcoholism 10235293, 11236830, 8871803, 17850642, 9581660, 9295055, 20146828, 8679787, 9650634, 9650635, 8800387, 16396745, 10327432, 15084894, 8277546, 16759339, 10881206, 9858031, 9754627, 7892418, 10898923, 8727249, 10893740, 1832467, 11054769, 17007976, 8362930, 8907305, 15296817, 7550364, 7901878, 11918988, 11256581, 10881203, 17079080, 10235291, 10597466, 17761687, 12782972, 7910578, 8512526, 8095994, 19376678, 15318112, 12376935, 7695792, 9259374, 8974314, 10881204, 9129720, 12893451, 8095394, 17948902, 17453061, 1347705, 8399816, 15545020, 8046727, 8488955, 1832466, 19929252, 17476365, 16840287, 10968775, 9118563, 7485259, 14643564, 10710227, 9660310, 8837712, 7681236, 19764934, 18828801, 17196743, 15542698, 15066703, 9650637, 8555738, 7755518, 7995569, 18307984, 16102380, 11817496, 11022024, 9735043, 13679114, 15457501, 11347517, 9650636, 9129716, 9034534, 8886168, 7585063, 7980596, 7919920, 8072432, 1283042, 1478642, 19603545
Alzheimers disease 8361636, 7814686, 9518532, 9779662, 12859348, 9803423
Antisocial disorder 17007976, 15457501, 10639691, 14643564
Anxiety disorders 20122683, 9513185, 19180583, 8897112
   
References
 
Primary:

Evidences for the existence of a low dopaminergic tone in polycystic ovarian syndrome: implications for OHSS development and treatment.

Gomez Raul, Ferrero Hortensia, Delgado-Rosas Francisco, Gaytan Maria, Morales Concepcion, Zimmermann Ralf C, Simon Carlos, Gaytan Francisco, Pellicer Antonio
Fundacion IVI, Institituto Universitario IVI/Fundacion Investigacion Clinico de Valencia (INCLIVA), 46015 Valencia, Spain.
J Clin Endocrinol Metab. 2011 Aug;96(8):2484-92. Epub 2011 Jun 6.

 

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