DRD3 dopamine receptor D3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRD3provided by HGNC
Official Full Name: dopamine receptor D3provided by HGNC
Primary source: HGNC:HGNC:3024
See related: Ensembl:ENSG00000151577 MIM:126451; AllianceGenome:HGNC:3024
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: D3DR; ETM1; FET1
Summary: This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (114127580..114199407, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (116848840..116920342, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (113846427..113918254, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of dopamine receptor D3 polymorphism with Levodopa-induced Dyskinesia: A study on Parkinson's disease patients from India.
Title: Association of dopamine receptor D3 polymorphism with Levodopa-induced Dyskinesia: A study on Parkinson's disease patients from India.
DRD3 Predicts Cognitive Impairment and Anxiety in Parkinson's Disease: Susceptibility and Protective Effects.
Title: DRD3 Predicts Cognitive Impairment and Anxiety in Parkinson's Disease: Susceptibility and Protective Effects.
Dopamine receptor D3 is related to prognosis in human hepatocellular carcinoma and inhibits tumor growth.
Title: Dopamine receptor D3 is related to prognosis in human hepatocellular carcinoma and inhibits tumor growth.
The genetic influence of the DRD3 rs6280 polymorphism (Ser9Gly) on functional connectivity and gray matter volume of the hippocampus in patients with first-episode, drug-naive schizophrenia.
Title: The genetic influence of the DRD3 rs6280 polymorphism (Ser9Gly) on functional connectivity and gray matter volume of the hippocampus in patients with first-episode, drug-naïve schizophrenia.
DRD3 Ser9Gly polymorphism and treatment response to antipsychotics in schizophrenia: A meta-analysis.
Title: DRD3 Ser9Gly polymorphism and treatment response to antipsychotics in schizophrenia: A meta-analysis.
HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease.
Title: HUMAN STUDY COMT and DRD3 haplotype-associated pain intensity and acute care utilization in adult sickle cell disease.
[Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and HTR2A rs7322347 with schizophrenia].", trans "Assotsiatsiya geneticheskikh polimorfizmov rs6280 gena DRD3, rs4680 gena COMT, rs7322347 gena HTR2A s shizofreniei.
Title: [Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and HTR2A rs7322347 with schizophrenia].
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
Title: New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
Variability in Action Selection Relates to Striatal Dopamine 2/3 Receptor Availability in Humans: A PET Neuroimaging Study Using Reinforcement Learning and Active Inference Models.
Title: Variability in Action Selection Relates to Striatal Dopamine 2/3 Receptor Availability in Humans: A PET Neuroimaging Study Using Reinforcement Learning and Active Inference Models.
Exploring regulation and function of dopamine D3 receptors in alcohol use disorder. A PET [(11)C]-(+)-PHNO study.
Title: Exploring regulation and function of dopamine D3 receptors in alcohol use disorder. A PET [(11)C]-(+)-PHNO study.

Submit: New GeneRIF Correction See all GeneRIFs (277)

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
Schizophrenia MedGen: C0036341 OMIM: 181500 GeneReviews: Not available	Compare labs
Tremor, hereditary essential, 1 MedGen: C1860861 OMIM: 190300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the five-factor model of personality in young Korean women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

NoName (e-PCR)
- UniSTS:483127

GDB:512205 (e-PCR)
- UniSTS:157523

GDB:197934 (e-PCR)
- UniSTS:156010

RH71216 (e-PCR)
- UniSTS:53374

NoName (e-PCR)
- UniSTS:480916

DRD3-556F (e-PCR)
- UniSTS:34219

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 neurotransmitter receptor activity, coupled via Gi/Go	IBA Inferred from Biological aspect of Ancestor more info
enables dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA Inferred from Direct Assay more info	PubMed
enables dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in acid secretion	ISS Inferred from Sequence or Structural Similarity more info
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 adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in arachidonic acid secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in behavioral response to cocaine	IEP Inferred from Expression Pattern more info	PubMed
involved_in behavioral response to cocaine	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in dopamine metabolic process	IC Inferred by Curator more info	PubMed
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in learning	NAS Non-traceable Author Statement more info	PubMed
involved_in learning or memory	NAS Non-traceable Author Statement more info	PubMed
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in musculoskeletal movement, spinal reflex action	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of adenylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in prepulse inhibition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dopamine secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dopamine secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dopamine uptake involved in synaptic transmission	IC Inferred by Curator more info	PubMed
involved_in regulation of potassium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to cocaine	IEP Inferred from Expression Pattern more info	PubMed
NOT involved_in response to ethanol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to histamine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to morphine	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in social behavior	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: D(3) dopamine receptor

Names: essential tremor 1

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_008842.3 RefSeqGene

Range

25355..76827

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000796.6 → NP_000787.2 D(3) dopamine receptor isoform a

See identical proteins and their annotated locations for NP_000787.2

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the predominant transcript and encodes the longer isoform (a). Variants a, f and g encode the same isoform (a).

Source sequence(s)

AC092896, AK292309, AY228458, BC095510

Consensus CDS

CCDS2978.1

UniProtKB/Swiss-Prot

A1A4V5, P35462, Q4VBM8

UniProtKB/TrEMBL

A8K8E4, X5D2G4

Related

ENSP00000373169.2, ENST00000383673.5

Conserved Domains (2) summary

pfam00001
Location:46 → 383

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:44 → 216

7tm_4; Olfactory receptor
NM_001282563.2 → NP_001269492.1 D(3) dopamine receptor isoform a

See identical proteins and their annotated locations for NP_001269492.1

Status: REVIEWED

Description

Transcript Variant: This variant (f) differs in the 5' UTR compared to variant a. Variants a, f and g encode the same isoform (a).

Source sequence(s)

AK292309, BC095510

Consensus CDS

CCDS2978.1

UniProtKB/Swiss-Prot

A1A4V5, P35462, Q4VBM8

UniProtKB/TrEMBL

A8K8E4, X5D2G4

Related

ENSP00000419402.1, ENST00000460779.5

Conserved Domains (2) summary

pfam00001
Location:46 → 383

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:44 → 216

7tm_4; Olfactory receptor
NM_001290809.1 → NP_001277738.1 D(3) dopamine receptor isoform a

See identical proteins and their annotated locations for NP_001277738.1

Status: REVIEWED

Description

Transcript Variant: This variant (g) has an additional internal exon in the 5' UTR, compared to variant a. Variants a, f and g encode the same isoform (a).

Source sequence(s)

AK292309, BC095510, BC128122

Consensus CDS

CCDS2978.1

UniProtKB/Swiss-Prot

A1A4V5, P35462, Q4VBM8

UniProtKB/TrEMBL

A8K8E4, X5D2G4

Related

ENSP00000420662.1, ENST00000467632.5

Conserved Domains (2) summary

pfam00001
Location:46 → 383

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:44 → 216

7tm_4; Olfactory receptor
NM_033663.6 → NP_387512.3 D(3) dopamine receptor isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (e) has split coding exons at the 3' end compared to the penultimate coding exon of variant a. This results in a shorter isoform (e) missing a 33 aa segment compared to isoform a.

Source sequence(s)

AC092896, AC093010

Consensus CDS

CCDS33829.1

UniProtKB/TrEMBL

A8K8E4, E9PCM4

Related

ENSP00000295881.6, ENST00000295881.9

Conserved Domains (2) summary

pfam00001
Location:46 → 350

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:44 → 216

7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

114127580..114199407 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

116848840..116920342 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_033658.1: Suppressed sequence

Description

NM_033658.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
NM_033659.1: Suppressed sequence

Description

NM_033659.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_033660.1: Suppressed sequence

Description

NM_033660.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.