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    DRD4 dopamine receptor D4 [ Homo sapiens (human) ]

    Gene ID: 1815, updated on 22-Sep-2016
    Official Symbol
    DRD4provided by HGNC
    Official Full Name
    dopamine receptor D4provided by HGNC
    Primary source
    HGNC:HGNC:3025
    See related
    Ensembl:ENSG00000069696 HPRD:00541; MIM:126452; Vega:OTTHUMG00000133312
    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
    D4DR
    Summary
    This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11p15.5
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (637305..640706)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (637305..640706)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cadherin related family member 5 Neighboring gene secretin Neighboring gene DEAF1, transcription factor Neighboring gene uncharacterized LOC105376508 Neighboring gene transmembrane protein 80 Neighboring gene EPS8 like 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Amine ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Amine ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to classical biogenic amine ligands are annotated here. The amines involved (acetylcholine, adrenaline, noradrenaline, dopamine, serotonin and histamine)...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Dopamine receptors, organism-specific biosystem (from REACTOME)
      Dopamine receptors, organism-specific biosystemDopamine receptors play vital roles in processes such as the control of learning, motivation, fine motor control and modulation of neuroendocrine signaling (Giralt JA and Greengard P, 2004). Abnormal...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Hypothetical Network for Drug Addiction, organism-specific biosystem (from WikiPathways)
      Hypothetical Network for Drug Addiction, organism-specific biosystemAdapted from figure 2 in [http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.0040002 Li et al.].
    • Monoamine GPCRs, organism-specific biosystem (from WikiPathways)
      Monoamine GPCRs, organism-specific biosystem
      Monoamine GPCRs
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Nicotine Activity on Dopaminergic Neurons, organism-specific biosystem (from WikiPathways)
      Nicotine Activity on Dopaminergic Neurons, organism-specific biosystemNicotine is an alkaloid found in tobacco plants. It is a substance that acts as a stimulant in humans and is one of the main factors responsible for tobacco dependence. When nicotine enters the body,...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine neurotransmitter receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine neurotransmitter receptor activity, coupled via Gi/Go IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine neurotransmitter receptor activity, coupled via Gi/Go ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dopamine neurotransmitter receptor activity, coupled via Gs IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    potassium channel regulator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of MAPK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenylate cyclase-inhibiting dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    arachidonic acid secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    behavioral fear response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    behavioral response to cocaine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    behavioral response to ethanol TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular calcium ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    dopamine metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of adenylate cyclase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of dopamine uptake involved in synaptic transmission IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of sodium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to amphetamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to histamine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptic transmission, dopaminergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    D(4) dopamine receptor
    Names
    D(2C) dopamine receptor
    dopamine D4 receptor
    seven transmembrane helix receptor

    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_021241.1 RefSeqGene

      Range
      5001..8402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000797.3NP_000788.2  D(4) dopamine receptor

      See identical proteins and their annotated locations for NP_000788.2

      Status: REVIEWED

      Source sequence(s)
      AP006284, BM674709, EU432112, L12398
      Consensus CDS
      CCDS7710.1
      UniProtKB/Swiss-Prot
      P21917
      UniProtKB/TrEMBL
      A0A0G2JM26
      Related
      ENSP00000176183, OTTHUMP00000164435, ENST00000176183, OTTHUMT00000257109
      Conserved Domains (1) summary
      pfam00001
      Location:51400
      7tm_1; 7 transmembrane receptor (rhodopsin family)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      637305..640706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      167178..170577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      636234..639634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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