Gene Gene information from NCBI Gene database.
Entrez ID 1813
Gene name Dopamine receptor D2
Gene symbol DRD2
Synonyms (NCBI Gene)
D2DRD2R
Chromosome 11
Chromosome location 11q23.2
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
SNPs SNP information provided by dbSNP.
2
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
miRNA miRNA information provided by mirtarbase database.
73
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Unknown 17317773;18354387
RELA Unknown 17317773;18354387
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
224
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001591 Function Dopamine neurotransmitter receptor activity, coupled via Gi/Go IBA
GO:0001591 Function Dopamine neurotransmitter receptor activity, coupled via Gi/Go IDA 2531656, 8301582
GO:0001591 Function Dopamine neurotransmitter receptor activity, coupled via Gi/Go IEA
GO:0001659 Process Temperature homeostasis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126450 3023 ENSG00000149295
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in the anterior pituitary gland. {ECO:0000269|PubMed:2531656}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in the anterior pituitary gland. {ECO:0000269|PubMed:2531656}.
Sequence
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
65
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANHEDONIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 29525397
★☆☆☆☆
Found in Text Mining only
Acquired Language Disorders Language Disorders CTD_human_DG 23691092
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 11174837
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30093531
★☆☆☆☆
Found in Text Mining only
Acute schizophrenia Schizophrenia BEFREE 24086483
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11444429, 19065655, 27185868
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 19065655
★☆☆☆☆
Found in Text Mining only
Adrenal Cortex Diseases Adrenal Cortex Diseases BEFREE 24618367
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 24009136, 31478179, 8027253
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 21592505
★☆☆☆☆
Found in Text Mining only