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DRD2 (dopamine receptor D2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1813
Gene nameGene Name - the full gene name approved by the HGNC.
Dopamine receptor D2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DRD2
SynonymsGene synonyms aliases
D2DR, D2R
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1076560 C>A,G Likely-benign, drug-response Intron variant
rs1800496 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT437986 hsa-miR-9-5p Luciferase reporter assay 24675081
MIRT437986 hsa-miR-9-5p Luciferase reporter assay 24675081
MIRT945332 hsa-miR-1285 CLIP-seq
MIRT945333 hsa-miR-1291 CLIP-seq
MIRT945334 hsa-miR-1827 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NFKB1 Unknown 17317773;18354387
RELA Unknown 17317773;18354387
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001591 Function Dopamine neurotransmitter receptor activity, coupled via Gi/Go IBA 21873635
GO:0001591 Function Dopamine neurotransmitter receptor activity, coupled via Gi/Go IDA 8301582
GO:0001659 Process Temperature homeostasis ISS
GO:0001666 Process Response to hypoxia IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P14416
Protein name D(2) dopamine receptor (Dopamine D2 receptor)
Protein function Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (PubMed:21645528). Positively regulates postnatal regression of retinal hyaloid vessels via suppression of VEGFR2/KDR activity, downstream of OPN5 (By simi
PDB 5AER , 6CM4 , 6LUQ , 6VMS , 7DFP , 7JVR , 8IRS , 8TZQ , 8U02
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1
51 426
7 transmembrane receptor (rhodopsin family)
Family
Sequence
Sequence length 443
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Rap1 signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Gap junction
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Alcoholism
  Dopamine receptors
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention Deficit Disorder, Attention deficit hyperactivity disorder rs120074176, rs786205019 17671965
Hyperprolactinemia Hyperprolactinemia rs398122522, rs376188691, rs754974807 19339912, 15286066
Hypertension Hypertensive disease rs13306026, rs13333226 11566895
Myoclonic dystonia Myoclonic dystonia rs121908489, rs121908490, rs863223283, rs121908491, rs863223284, rs1584531843, rs121908492, rs863223285, rs398123812, rs786205860, rs794727794, rs886039595, rs1057517990, rs1057519246, rs1189469219, rs1064794321, rs1064797339, rs1554352819, rs1554355416, rs1554353106, rs1554345052, rs1554352952, rs1554358727, rs1554352906, rs1554345077, rs1554345162, rs1554345170, rs1562806242, rs1562805960, rs1562812370, rs1562853011, rs1562811414, rs1584637958, rs1584663425, rs1584663290, rs1584546131, rs372686312, rs1584546494, rs1584692239, rs1584700882, rs1584546238, rs1799563986
Unknown
Disease name Disease term dbSNP ID References
Anhedonia Anhedonia 20620876
Anxiety disorder Anxiety, Anxiety Disorders, Anxiety States, Neurotic 20532872, 18305461, 18305461, 20532872
Ballismus Ballismus 16435402
Basal ganglia diseases Basal Ganglia Diseases 18480698, 11198054, 12211096, 19506579, 19225277

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