DRD2: Polycystic Ovarian Syndrome Database

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DRD2

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

DRD2

Aliases

D2DR, D2R

Entrez Gene ID

1813

Gene Name

Dopamine receptor D2

Chromosomal Location

11q23.2

HGNC ID

HGNC:3023

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]

RefSeq DNA

NG_008841.1

RefSeq mRNA

NM_000795.4, NM_016574.3

e!Ensembl

Gene	ENSG00000149295
Transcript	ENST00000346454, ENST00000362072, ENST00000544518, ENST00000542968, ENST00000538967, ENST00000543292, ENST00000542616
Protein	ENSP00000278597, ENSP00000354859, ENSP00000441068, ENSP00000442172, ENSP00000438215, ENSP00000438419, ENSP00000441474

Gene Ontology (GO)

Show/Hide all(24 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007188	Biological process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007195	Biological process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	8666994, 26554819
GO:0032467	Biological process	Positive regulation of cytokinesis	IMP	22888021
GO:0034776	Biological process	Response to histamine	IDA	16839358
GO:0042417	Biological process	Dopamine metabolic process	IC	8301582
GO:0050482	Biological process	Arachidonic acid secretion	IDA	8301582
GO:0050709	Biological process	Negative regulation of protein secretion	IDA	16839358
GO:0051584	Biological process	Regulation of dopamine uptake involved in synaptic transmission	IC	8301582
GO:0051898	Biological process	Negative regulation of protein kinase B signaling	NAS	21711983
GO:0060079	Biological process	Excitatory postsynaptic potential	NAS	21711983
GO:0060158	Biological process	Phospholipase C-activating dopamine receptor signaling pathway	IGI	17194762
GO:0071880	Biological process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA	21873635
GO:1900168	Biological process	Positive regulation of glial cell-derived neurotrophic factor secretion	IDA	23373701
GO:0005886	Cellular component	Plasma membrane	IDA	26554819
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	IDA	8413587
GO:0005929	Cellular component	Cilium	IDA	28154160
GO:0060170	Cellular component	Ciliary membrane	IDA	20531939
GO:0097730	Cellular component	Non-motile cilium	IDA	20531939
GO:0001591	Molecular function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	8301582
GO:0004935	Molecular function	Adrenergic receptor activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	10692483, 17380124, 19632986
GO:0008144	Molecular function	Drug binding	IDA	8413587
GO:0042802	Molecular function	Identical protein binding	IPI	18668123

Protein Information

Protein Name

D(2) dopamine receptor, dopamine D2 receptor, dopamine receptor D2 isoform, seven transmembrane helix receptor

Function

Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase

Refseq Proteins

NP_000786.1, NP_057658.2

UniProt

P14416

PDB

1I15, 5AER, 6CM4

Pfam

Pfam Accession	Pfam ID
PF00001	7tm_1

Pathways
	KEGG	Reactome
	Rap1 signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Gap junction Dopaminergic synapse Parkinson disease Cocaine addiction Alcoholism	Dopamine receptors

Interactions

STRING	MINT	IntAct
ENSP00000325822

View interactions

Associated Diseases

Show/Hide all(6 )

Disease group	Disease Name	References
Cardiovascular Diseases
Cardiovascular Diseases	Hypertensive disease	11566895
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Orofacial dyskinesia	16435402
	Catalepsy	9618422, 1365866, 3283778, 7845605
	Atonic seizures	11860278, 7936204, 1829682
	Language impairment	23691092
Endocrine System Diseases
	Hyperprolactinemia	15286066, 19339912
	PCOS	21646367
Neoplasms
Neoplasms	Pituitary Neoplasms	12727942
Nervous System Diseases
	Seizures	7936204, 11860278, 1829682
	Jacksonian Seizure	11860278, 1829682, 7936204
	Parkinson Disease	9171869, 12476322, 15469457, 8558425
	Movement Disorders	6858777
	Extrapyramidal Disorders	12211096, 19506579, 19225277, 11198054, 18480698
	Dyskinesia	7845605, 10534246, 14629710, 16435402
	Ramsay Hunt Paralysis Syndrome	12476322, 9171869, 15469457
	Basal Ganglia Diseases	18480698, 11198054, 19225277, 19506579, 12211096
	Status marmoratus	6858777
	Ballismus	16435402
	Lenticulostriate Disorders	12211096, 19225277, 18480698, 11198054, 19506579
Psychiatric/Brain disorders
	Mental Depression	22796099, 23696934, 24322206, 23683269, 24555772, 18929622, 21540761, 24780147, 23512949, 20526230, 11728608, 1385598
	Delirium	19739106, 19309018
	Memory Disorders	21592505
	Acquired Language Disorders	23691092
	Mood Disorders	15108180, 21130502, 24655768, 24322206, 11992560
	Bipolar Disorder	22514151, 20874815, 23044341, 24229495, 22326841
	Kleptomania	17332411, 20671181, 19940168
	Anxiety Disorders	20532872, 18305461
	Anhedonia	20620876
	Cognition Disorders	19910723
	Schizophrenia	10831489, 11245917, 21187413, 18583979
	Developmental Disabilities	21592505
	Disruptive, Impulse Control, and Conduct Disorders	19940168, 20671181, 17332411
	Intermittent Explosive Disorder	17332411, 19940168, 20671181
	Attention Deficit Disorder	17671965
	Minimal Brain Dysfunction	17671965
	Child Development Deviations	21592505
	Eating Disorders	30677719, 22579533, 17615493

References

PMID: 21646367

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. doi: 10.1210/jc.2011-0075. Epub

Abstract

CONTEXT: The dopamine/dopamine receptor 2 (D2/Drd2) pathway modulates vascular endothelial growth factor (VEGF)-dependent vascular permeability and angiogenesis in the ovary. Deregulation of the VEGF/VEGF receptor (VEGFR)-2 pathway leading to increased risk of ovarian hyperstimulation syndrome has been described in the ovary of patients suffering from polycystic ovarian syndrome (PCOS).
OBJECTIVE: The objective of the study was to ascertain whether deregulation of the VEGF/VEGFR-2 might a least be partially due to abnormalities of the D2/Drd2 pathway in PCOS women. DESIGN: Dated, archived ovaries from PCOs and control group patients as well as human chorionic gonadotropin-stimulated luteinized granulosa cells form PCOS and non-PCOS oocyte patients were used. SETTING: The study was conducted at a private research center. PATIENTS OR OTHER PARTICIPANTS: PCOS and nonpolycystic ovarian patients and oocyte patients participated in the study. INTERVENTION(S): Human ovarian sections were stained against the Drd2 antibody. Human chorionic gonadotropin-stimulated luteinized granulosa cells (LGC) were cultured in the presence/absence and the Drd2 agonist cabergoline. MAIN OUTCOME MEASURE(S): Drd2 and vascularized stained area in the theca layer of antral (< 8 mm) and luteinized follicles was quantified. VEGF, D2, and its related metabolites were measured in the supernatant of cultured LGC by ELISA and HPLC, respectively. VEGFR-2 and Drd2 expressed by LGC was quantified through an In-Cell ELISA.
RESULTS: Decreased Drd2 expression and increased vascularization in the theca layer of antral and luteinized follicles of PCOS ovaries was observed. A lower dopamine production and reduced efficacy of cabergoline in inhibiting VEGF secretion was uncovered in LGC from PCOS.
CONCLUSIONS: Decreased dopaminergic tone as well as deregulated Drd2 signaling might explain higher VEGF and vascularization leading to increased ovarian hyperstimulation syndrome risk in PCOS.

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