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    DRD4 dopamine receptor D4 [ Homo sapiens (human) ]

    Gene ID: 1815, updated on 11-Apr-2024

    Summary

    Official Symbol
    DRD4provided by HGNC
    Official Full Name
    dopamine receptor D4provided by HGNC
    Primary source
    HGNC:HGNC:3025
    See related
    Ensembl:ENSG00000069696 MIM:126452; AllianceGenome:HGNC:3025
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See DRD4 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (637269..640706)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (685792..689369)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (637269..640706)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:620099-620704 Neighboring gene cadherin related family member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:626715-627215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:635551-636086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:636087-636620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637156-637689 Neighboring gene secretin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637690-638224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638225-638758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638759-639293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:639294-639827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640193-640804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640805-641416 Neighboring gene Sharpr-MPRA regulatory region 3787 Neighboring gene DEAF1 transcription factor Neighboring gene uncharacterized LOC124902603 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:676679-677178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:679106-679606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:686586-687086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:687087-687587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:688565-689488 Neighboring gene hESC enhancers GRCh37_chr11:694659-695198 and GRCh37_chr11:695199-695740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:695741-696280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:696821-697360 Neighboring gene transmembrane protein 80 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:704144-705071

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled serotonin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SH3 domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dopamine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dopamine neurotransmitter receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables dopamine neurotransmitter receptor activity, coupled via Gi/Go ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables epinephrine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables norepinephrine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel regulator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serotonin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger 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 adenylate cyclase-inhibiting dopamine receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adult locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in arachidonic acid secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in behavioral fear response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in behavioral response to cocaine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in behavioral response to ethanol TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in dopamine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular calcium ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of dopamine uptake involved in synaptic transmission IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of sodium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amphetamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to histamine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    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
     
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    D(4) dopamine receptor
    Names
    D(2C) dopamine receptor
    dopamine D4 receptor
    seven transmembrane helix receptor

    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_021241.1 RefSeqGene

      Range
      4965..8402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000797.4NP_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
      B0M0J7, P21917, Q7Z7Q5, Q8NGM5
      Related
      ENSP00000176183.5, ENST00000176183.6
      Conserved Domains (1) summary
      cd15308
      Location:38411
      7tmA_D4_dopamine_R; D4 dopamine receptor of the D2-like family, member of the class A family of seven-transmembrane G protein-coupled receptors

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      637269..640706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      167142..170577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      685792..689369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)