DRD5 dopamine receptor D5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRD5provided by HGNC
Official Full Name: dopamine receptor D5provided by HGNC
Primary source: HGNC:HGNC:3026
See related: Ensembl:ENSG00000169676 MIM:126453; AllianceGenome:HGNC:3026
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DBDR; DRD1B; DRD1L2
Summary: This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (9781634..9784009)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (9781407..9783782)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (9783258..9785633)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and antisocial personality disorders in polydrug users.
Title: Relationship of DRD5 and MAO-B VNTR polymorphisms with paranoid and antisocial personality disorders in polydrug users.
Hypermethylation of DRD5 Promoter Is a Biomarker Across 12 Cancer Types.
Title: Hypermethylation of DRD5 Promoter Is a Biomarker Across 12 Cancer Types.
The effects of dopamine receptor genes on the trajectories of sport participation from adolescence through young adulthood.
Title: The effects of dopamine receptor genes on the trajectories of sport participation from adolescence through young adulthood.
These suggest that hD5R(F173L) increases blood pressure, in part, by decreasing renal thioredoxin 1 expression and increasing reactive oxygen species production. Hyperphosphorylation of hD5R(F173L), with its dissociation from Galphas and Galphaq, is the key factor in impaired D5R function of hD5R(F173L)-TG mice.
Title: Role of Thioredoxin 1 in Impaired Renal Sodium Excretion of hD (5) R (F173L) Transgenic Mice.
These results implicate DRD5 as a negative regulator of DRD2 signaling and tumor sensitivity to ONC201 DRD2 antagonism.
Title: Dopamine Receptor D5 is a Modulator of Tumor Response to Dopamine Receptor D2 Antagonism.
Dopamine D5 receptor may play an important role in the preservation of normal heart function by inhibiting the production of reactive oxygen species, via inhibition of NADPH oxidase, Nrf2 degradation, and ERK1/2/JNK pathways.
Title: Over-expression of a cardiac-specific human dopamine D5 receptor mutation in mice causes a dilated cardiomyopathy through ROS over-generation by NADPH oxidase activation and Nrf2 degradation.
The C allele of DRD5 rs6283 SNP was associated with decreased risk of awake bruxism (p = 0.01).
Title: Single nucleotide polymorphisms in genes of dopaminergic pathways are associated with bruxism.
DRD5 (dopamine receptor D5) agonists were potent inhibitors of pituitary tumor growth.
Title: Activation of DRD5 (dopamine receptor D5) inhibits tumor growth by autophagic cell death.
Meta-analysis of data from six sites of the International Multicentre persistent ADHD CollaboraTion tested the association of the common DRD5 alleles with categorically defined ADHD and with inattentive and hyperactive/impulsive symptom counts, found evidence that none of the common DRD5 alleles are associated with ADHD risk or ADHD symptom counts in adults.
Title: Meta-analysis of the DRD5 VNTR in persistent ADHD.
Study investigated the contribution of DRD5 gene variants in the symptoms of attention-deficit/hyperactivity disorder (ADHD): 19 exonic variants were monomorphic in the Indo-Caucasoid individuals. rs6283 "C" and rs113828117 "A" exhibited significant higher occurrence in families with ADHD probands. Early and late onset groups exhibited significantly different genotypic frequencies.
Title: The Dopamine Receptor D5 May Influence Age of Onset: An Exploratory Study on Indo-Caucasoid ADHD Subjects.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blepharospasm, benign essential, susceptibility to MedGen: C4692845 OMIM: 606798 GeneReviews: Not available	not available
Hereditary attention deficit-hyperactivity disorder MedGen: CN324066 OMIM: 143465 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-15) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-05-15) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65183 (e-PCR)
- UniSTS:230705

GDB:193457 (e-PCR)
- UniSTS:155749

DRD5 (e-PCR)
- UniSTS:479852

DRD5_24 (e-PCR)
- UniSTS:276178

RH69165 (e-PCR)
- UniSTS:88022

GDB:305493 (e-PCR)
- UniSTS:156411

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine binding	IDA Inferred from Direct Assay more info	PubMed
enables dopamine neurotransmitter receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables dopamine neurotransmitter receptor activity, coupled via Gs	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine neurotransmitter receptor activity, coupled via Gs	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of adenylate cyclase activity	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in cellular response to catecholamine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in long-term synaptic depression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of NAD(P)H oxidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating dopamine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of adenylate cyclase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of female receptivity	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure by vasopressin	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in sensitization	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, dopaminergic	NAS Non-traceable Author Statement more info	PubMed
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in brush border membrane	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D(1B) dopamine receptor

Names: D1beta dopamine receptor; d(5) dopamine receptor; dopamine D5 receptor; dopamine receptor D1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012024.1 RefSeqGene

Range

5001..7376

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000798.5 → NP_000789.1 D(1B) dopamine receptor

Status: REVIEWED

Source sequence(s)

AC098976, BC009748

Consensus CDS

CCDS3405.1

UniProtKB/Swiss-Prot

B2R9S3, P21918, Q8NEQ8

Related

ENSP00000306129.2, ENST00000304374.4

Conserved Domains (2) summary

pfam00001
Location:57 → 359

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:123 → 175

7tm_4; Olfactory receptor