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FLASH GENE
Symbol DRD3 contributors: mct/npt - updated : 25-03-2013
HGNC name dopamine receptor D3
HGNC id 3024
DNA
TYPE functioning gene
STRUCTURE 50.34 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 splicing 1640 44.2 400 - Griffon, Gourion
  • the longest isoform
  • 7 exons
    • 8 splicing 1541 - 367 - Griffon, Gourion
  • lacking a 98nt fragment of an internal exon
  • resulting in a frameshift and an earlier stop codon
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamusnucleus accumbens 
    Reproductivemale systemtestis   
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM) receptor
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Drd3
    homolog to C.elegans C09B7.1
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    text both DRD3 and GRK4 co-localize in lipid rafts of human renal proximal tubule cells (Villar 2009)
    basic FUNCTION
  • inhibiting adenylyl cyclase through inhibiory G protein
  • playing a role in cognitive and emotional functions
  • exhibits a tolerance property where in the magnitude of the second agonist-induced response is reduced compared to the first response and progressively decreases upon repeated agonist application (Kuzhikandathil 2004)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS behavioral
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between DRD3 and GRK4 (Villar 2009)
  • DRD3 interaction with GNA12/GNA13 that increases sodium excretion may have a role in the regulation of blood pressure
    • cell & other
    REGULATION
    Other target for drugs treating schizophrenia and Parkinson disease
    regulated by brain derived neurotrophic factor (BDNF)
    ASSOCIATED DISORDERS
    corresponding disease(s) ETM1
    Susceptibility
  • to schizophrenia
  • to essential tremor
  • to autism spectrum disorder
    • Variant & Polymorphism SNP , other
  • association between Ser9Gly and risk of essntial tremor not confrmed (Lorenz 2008)
  • common protective haplotype against schizophrenia (Costas 2009)
  • association between SNP rs167771 located in the DRD3 gene was found in autism spectrum disorder (de Krom 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    DRD3-deficient mice (Accili, 1996)