DRD2

dopamine receptor D2, the group of Dopamine receptors|MicroRNA protein coding host genes

Basic information

Region (hg38): 11:113409604-113475691

Links

ENSG00000149295 ∙ NCBI:1813 ∙ OMIM:126450 ∙ HGNC:3023 ∙ Uniprot:P14416 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Myoclonic dystonia	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal	10220438; 10716258; 12402271; 20301587
Variants have been implicated in Myoclonic dystonia, though the data are mixed

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRD2 gene.

• Dystonic disorder (75 variants)
• not provided (39 variants)
• not specified (8 variants)
• Inborn genetic diseases (5 variants)
• DRD2-associated Dystonia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRD2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	25	13	39
missense			24		3	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	3	3	7
non coding			1	3	30	34
Total	0	0	26	28	46

Variants in DRD2

This is a list of pathogenic ClinVar variants found in the DRD2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-113410675-C-T			Benign (Jun 18, 2021)
11-113410711-C-T		not specified	Likely benign (-)
11-113410754-C-T		Dystonic disorder	Likely benign (Jan 13, 2024)
11-113410767-A-G		Dystonic disorder • not specified	Uncertain significance (Feb 06, 2024)
11-113410787-G-A		Dystonic disorder	Likely benign (Aug 19, 2021)
11-113410798-C-T			Uncertain significance (Jan 01, 2023)
11-113410799-G-A		Dystonic disorder	Likely benign (Nov 12, 2018)
11-113410802-G-A		Dystonic disorder	Likely benign (Feb 18, 2021)
11-113410823-C-T		Dystonic disorder	Likely benign (Jul 01, 2023)
11-113410831-C-T		Dystonic disorder	Benign (Jun 17, 2023)
11-113410910-G-A		Dystonic disorder	Likely benign (Feb 16, 2023)
11-113410916-C-T		Dystonic disorder	Likely benign (Apr 07, 2020)
11-113410922-T-TG		Dystonic disorder	Benign (Aug 25, 2023)
11-113411054-A-C			Benign (Jun 18, 2021)
11-113411094-G-A			Benign (Jun 19, 2021)
11-113411128-C-T			Benign (Jun 19, 2021)
11-113411573-T-G		Dystonic disorder	Benign (Jan 29, 2024)
11-113412491-A-C			Benign (Jun 19, 2021)
11-113412546-GC-G		Dystonic disorder	Likely benign (Nov 29, 2018)
11-113412549-G-A			Benign (Jul 20, 2018)
11-113412568-C-G		Dystonic disorder	Uncertain significance (Oct 28, 2021)
11-113412573-A-C		Dystonic disorder	Uncertain significance (Sep 14, 2021)
11-113412598-G-T		Dystonic disorder	Uncertain significance (Aug 29, 2018)
11-113412615-C-T		Dystonic disorder • not specified	Conflicting classifications of pathogenicity (Mar 01, 2023)
11-113412651-T-C			Uncertain significance (Feb 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRD2	protein_coding	protein_coding	ENST00000362072	7	66096

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.747	0.253	125745	0	3	125748	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.62	162	287	0.564	0.0000192	2928
Missense in Polyphen		32	93.379	0.34269		904
Synonymous	-0.507	125	118	1.06	0.00000876	881
Loss of Function	3.23	3	17.7	0.170	0.00000102	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000884	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. {ECO:0000269|PubMed:21645528}.
• Pathway: Dopaminergic synapse - Homo sapiens (human);Gap junction - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics;Nicotine Activity on Dopaminergic Neurons;Common Pathways Underlying Drug Addiction;Phosphodiesterases in neuronal function;GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;regulation of ck1/cdk5 by type 1 glutamate receptors;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Dopamine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.724

Intolerance Scores

• loftool: 0.305
• rvis_EVS: -0.6
• rvis_percentile_EVS: 18.06

Haploinsufficiency Scores

• pHI: 0.190
• hipred: Y
• hipred_score: 0.853
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.770

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Drd2
• Phenotype: pigmentation phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; respiratory system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; skeleton phenotype; immune system phenotype; muscle phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: drd2b
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: temperature homeostasis;response to hypoxia;negative regulation of protein phosphorylation;synaptic transmission, dopaminergic;response to amphetamine;neurological system process involved in regulation of systemic arterial blood pressure;regulation of heart rate;regulation of sodium ion transport;G protein-coupled receptor internalization;positive regulation of neuroblast proliferation;positive regulation of receptor internalization;autophagy;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting dopamine receptor signaling pathway;neuron-neuron synaptic transmission;axonogenesis;synapse assembly;sensory perception of smell;long-term memory;grooming behavior;locomotory behavior;adult walking behavior;protein localization;negative regulation of cell population proliferation;associative learning;visual learning;response to light stimulus;response to iron ion;response to inactivity;Wnt signaling pathway;striatum development;orbitofrontal cortex development;cerebral cortex GABAergic interneuron migration;adenohypophysis development;negative regulation of cell migration;peristalsis;auditory behavior;activation of protein kinase activity;regulation of synaptic transmission, GABAergic;positive regulation of cytokinesis;circadian regulation of gene expression;negative regulation of dopamine secretion;response to histamine;response to nicotine;positive regulation of urine volume;positive regulation of renal sodium excretion;positive regulation of multicellular organism growth;response to cocaine;negative regulation of circadian sleep/wake cycle, sleep;dopamine metabolic process;response to drug;drinking behavior;regulation of potassium ion transport;response to morphine;pigmentation;regulation of phosphoprotein phosphatase activity;positive regulation of G protein-coupled receptor signaling pathway;negative regulation of blood pressure;negative regulation of innate immune response;positive regulation of transcription by RNA polymerase II;negative regulation of insulin secretion;behavioral response to cocaine;behavioral response to ethanol;regulation of long-term neuronal synaptic plasticity;response to axon injury;branching morphogenesis of a nerve;arachidonic acid secretion;negative regulation of protein secretion;release of sequestered calcium ion into cytosol;negative regulation of cytosolic calcium ion concentration;regulation of dopamine uptake involved in synaptic transmission;positive regulation of dopamine uptake involved in synaptic transmission;regulation of synapse structural plasticity;negative regulation of protein kinase B signaling;negative regulation of synaptic transmission, glutamatergic;excitatory postsynaptic potential;positive regulation of growth hormone secretion;prepulse inhibition;phospholipase C-activating dopamine receptor signaling pathway;negative regulation of dopamine receptor signaling pathway;negative regulation of cell death;positive regulation of ERK1 and ERK2 cascade;adenylate cyclase-activating adrenergic receptor signaling pathway;regulation of locomotion involved in locomotory behavior;postsynaptic modulation of chemical synaptic transmission;positive regulation of glial cell-derived neurotrophic factor secretion;positive regulation of long-term synaptic potentiation;negative regulation of voltage-gated calcium channel activity;regulation of synaptic vesicle exocytosis
• Cellular component: acrosomal vesicle;plasma membrane;integral component of plasma membrane;postsynaptic density;lateral plasma membrane;endocytic vesicle;axon;dendrite;synaptic vesicle membrane;sperm flagellum;dendritic spine;perikaryon;axon terminus;ciliary membrane;non-motile cilium;dopaminergic synapse;glutamatergic synapse;GABA-ergic synapse;integral component of postsynaptic membrane;integral component of presynaptic membrane
• Molecular function: dopamine neurotransmitter receptor activity, coupled via Gi/Go;adrenergic receptor activity;protein binding;drug binding;dopamine binding;ionotropic glutamate receptor binding;identical protein binding;protein homodimerization activity;protein heterodimerization activity