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DRD3 dopamine receptor D3 [ Homo sapiens (human) ]

Gene ID: 1814, updated on 10-Dec-2024

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
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Genomic context

See DRD3 in Genome Data Viewer
Location:
3q13.31
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (114127580..114199407, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116848840..116920342, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113846427..113918254, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:113777633-113778132 Neighboring gene queuine tRNA-ribosyltransferase accessory subunit 2 Neighboring gene NANOG hESC enhancer GRCh37_chr3:113829766-113830267 Neighboring gene H2B histone pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113871254-113871787 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873145-113873654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873655-113874164 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:113932583-113933256 Neighboring gene ZNF80-LTR promoter Neighboring gene ATOSB pseudogene 1 Neighboring gene zinc finger protein 80

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association study of the five-factor model of personality in young Korean women.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC149204, MGC149205

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 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 arachidonate 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 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 phospholipase C-activating dopamine receptor signaling pathway 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

Preferred Names
D(3) dopamine receptor
Names
essential tremor 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_008842.3 RefSeqGene

    Range
    25355..76827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000796.6NP_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:46383
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:44216
    7tm_4; Olfactory receptor
  2. NM_001282563.2NP_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:46383
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:44216
    7tm_4; Olfactory receptor
  3. NM_001290809.1NP_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:46383
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:44216
    7tm_4; Olfactory receptor
  4. NM_033663.6NP_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:46350
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:44216
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    114127580..114199407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    116848840..116920342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033658.1: Suppressed sequence

    Description
    NM_033658.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  2. 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.
  3. 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.