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    DRD3 dopamine receptor D3 [ Homo sapiens (human) ]

    Gene ID: 1814, updated on 17-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DRD3 in Genome Data Viewer
    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_000003.12Genomic 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 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

    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_2023_10

    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.