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DRD4 Gene

protein-coding   GIFtS: 68
GCID: GC11P000656

Dopamine Receptor D4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dopamine Receptor D41 2
Dopamine D4 Receptor2 3
D(2C) Dopamine Receptor2 3
D4DR2
D(4) Dopamine Receptor2
Seven Transmembrane Helix Receptor2

External Ids:    HGNC: 30251   Entrez Gene: 18152   Ensembl: ENSG000000696967   OMIM: 1264525   UniProtKB: P219173   

Export aliases for DRD4 gene to outside databases

Previous GC identifers: GC11P001092 GC11M000923 GC11M000559 GC11P000627 GC11P000452 GC11P000638 GC11P000646 GC11P000653


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DRD4 Gene:
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)

GeneCards Summary for DRD4 Gene:
DRD4 (dopamine receptor D4) is a protein-coding gene. Diseases associated with DRD4 include pathological gambling, and separation anxiety disorder. GO annotations related to this gene include drug binding and identical protein binding. An important paralog of this gene is HTR2A.

UniProtKB/Swiss-Prot: DRD4_HUMAN, P21917
Function: Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of
the brain that regulates emotion and complex behavior. Its activity is mediated by G proteins which inhibit
adenylyl cyclase

summary for DRD4 Gene:
D4 receptors are members of the dopamine receptor G-protein-coupled receptor family that also includes D1,
D2, D3 and D5. They are located primarily in the frontal cortex, midbrain, amygdala and the cardiovascular
system. The function of the D4 receptor is unknown, although a role in cognition and emotion has been
proposed. The human D4 receptor gene has been localized to chromosome 11 (11q15.5).

Gene Wiki entry for DRD4 (Dopamine receptor D4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  NT_187586.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the DRD4 gene promoter:
         Sp1   p300   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDRD4 promoter sequence
   Search Chromatin IP Primers for DRD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DRD4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

DRD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DRD4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000656:  view genomic region     (about GC identifiers)

Start:
637,293 bp from pter      End:
640,706 bp from pter
Size:
3,414 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DRD4_HUMAN, P21917 (See protein sequence)
Recommended Name: D(4) dopamine receptor  
Size: 467 amino acids; 48361 Da
Subunit: Forms homo- and heterooligomers with DRD2. D4.7 allele exhibits higher affinity for homodimers compared
to DRD2 heterodimers, while alleles D42. and 4.4 have similar affinities for both. The interaction with DRD2 may
modulate agonist-induced downstream signaling. Interacts with CLIC6 (By similarity) and GPRASP1. May interact
with ADORA2A. Interacts with KLHL12
Sequence caution: Sequence=AAL58637.1; Type=Erroneous gene model prediction;
Secondary accessions: B0M0J7 Q7Z7Q5 Q8NGM5

Explore the universe of human proteins at neXtProt for DRD4: NX_P21917

Explore proteomics data for DRD4 at MOPED

Post-translational modifications: 

  • Polyubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex: polyubiquitination does not lead to degradation
    of DRD4 protein1
  • Glycosylation2 at Asn3
  • Modification sites at PhosphoSitePlus

  • See DRD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000788.2  
    ENSEMBL proteins: 
     ENSP00000176183  
    Reactome Protein details: P21917

    DRD4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for DRD4
    Cloud-Clone Corp. CLIAs for DRD4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DRD: GPCR / Class A : Dopamine receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: D4 receptor
    Dopamine receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000929 Dopamine_rcpt
     IPR000276 GPCR_Rhodpsn
     IPR002185 Dopamine_D4_rcpt

    Graphical View of Domain Structure for InterPro Entry P21917

    ProtoNet protein and cluster: P21917

    2 Blocks protein domains:
    IPB000929 Dopamine receptor signature
    IPB002185 Dopamine D4 receptor signature


    UniProtKB/Swiss-Prot: DRD4_HUMAN, P21917
    Similarity: Belongs to the G-protein coupled receptor 1 family


    DRD4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DRD4_HUMAN, P21917
    Function: Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of
    the brain that regulates emotion and complex behavior. Its activity is mediated by G proteins which inhibit
    adenylyl cyclase

         Genatlas biochemistry entry for DRD4:
    dopamine receptor D4,with high affinity for antagonist clozapine,G protein coupled receptor superfamily,not
    imprinted in the human brain (putatively involved in the susceptibility to Gilles de la Tourette syndrome),and a
    wide range of neuropsychiatric disorders and normal behavioural variation

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001591dopamine neurotransmitter receptor activity, coupled via Gi/Go ISS--
    GO:0004930G-protein coupled receptor activity ----
    GO:0004952dopamine neurotransmitter receptor activity IDA8413587
    GO:0005515protein binding IPI12297500
    GO:0008144drug binding IDA1319557
         
    DRD4 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Drd4):
     behavior/neurological  homeostasis/metabolism  nervous system  vision/eye 

    DRD4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DRD4: Drd4tm1Dkg Drd4tm1(IL2RA)Tao

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DRD4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DRD4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DRD4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DRD4

    miRNA
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    miRTarBase miRNAs that target DRD4:
    hsa-mir-124-3p (MIRT022474)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DRD4

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DRD4 (NM_000797)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DRD4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DRD4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DRD4_HUMAN, P21917: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA15755724
    GO:0005938cell cortex IEA--
    GO:0012506vesicle membrane IEA--

    DRD4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DRD4 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    G alpha (i) signalling events0.44
    2Monoamine GPCRs
    Monoamine GPCRs0.79
    Dopamine receptors0.00
    Amine ligand-binding receptors0.79
    3Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    5Circadian entrainment
    Dopaminergic synapse0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DRD4
        CDK5 Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    5 BioSystems Pathways for DRD4
        Hypothetical Network for Drug Addiction
    Nicotine Activity on Dopaminergic Neurons
    GPCRs, Other
    GPCRs, Class A Rhodopsin-like
    Monoamine GPCRs

    2 Reactome Pathways for DRD4
        Dopamine receptors
    G alpha (i) signalling events

    1 PharmGKB Pathway for DRD4
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    2 Kegg Pathways  (Kegg details for DRD4):
        Neuroactive ligand-receptor interaction
    Dopaminergic synapse


    DRD4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including DRD4: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DRD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DRD4 (P219171, 2, 3 ENSP000001761834) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DRD4P219171, 2EBI-8592297,EBI-8592297 MINT-8090346 MINT-8090371 MINT-8090394
    KCNJ9Q928063, ENSP000003570674I2D: score=2 STRING: ENSP00000357067
    KLHL12Q53G593, ENSP000003562304I2D: score=2 STRING: ENSP00000356230
    KCNJ3P485493, ENSP000002951014I2D: score=1 STRING: ENSP00000295101
    KCNJ5P485443, ENSP000003399604I2D: score=1 STRING: ENSP00000339960
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IDA15755724
    GO:0001662behavioral fear response NAS12860355
    GO:0001963synaptic transmission, dopaminergic IEA--
    GO:0001975response to amphetamine ISS--
    GO:0006874cellular calcium ion homeostasis IC7921596

    DRD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for DRD4
      Browse compounds at ApexBio 

    Compounds for DRD4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    A 412997 dihydrochlorideSelective D4 agonist[1347744-96-0]
    PD 168077 maleate High affinity, selective D4 agonist [630117-19-0]
    L-745,870 trihydrochloride Highly selective D4 antagonist[158985-00-3]
    PNU 96415ED4 and 5-HT2A antagonist; antipsychotic[170856-41-4]
    L-741,742 hydrochloride Highly selective D4 antagonist[156337-32-5]

    2 HMDB Compounds for DRD4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--
    OlanzapineLanzac (see all 5)132539-06-1--

    Selected DrugBank Compounds for DRD4 (see all 24)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ApomorphineApomorfin (see all 9)41372-20-7targetagonist9497025 17067298 15007532 11752352 17164075 9871530 18691132
    Clozapine-- 5786-21-0targetantagonist13129658 16223700 11752352 15886414 12763097 15992586
    Asenapine-- 65576-45-6targetantagonist21655346 18308814 10592235
    Levodopa3,4-dihydroxyphenylalanine (see all 4)59-92-7targetagonist11978145 18549347 9633680
    CabergolineCabergolina [Spanish] (see all 2)81409-90-7targetagonist18691132 12388667
    Olanzapine-- 132539-06-1targetantagonist16237394 11752352
    Paliperidone-- 144598-75-4targetantagonist7520908 7531353
    Pramipexole-- 104632-26-0targetagonist11752352 18691132
    PromazinePromazin (see all 2)58-40-2targetantagonist17139284 17016423
    Propiomazine-- 362-29-8targetantagonist17139284 17016423

    Selected IUPHAR Ligands for DRD4 (D4 receptor) (see all 26)    About this table
    LigandTypeActionAffinityPubmed IDs
    nemonapride
    AntagonistAntagonist108248849
    [125I]L750667
    AntagonistAntagonist9.88967990
    [3H]spiperone
    AntagonistAntagonist9.57777184 1840645
    L745870
    AntagonistAntagonist9.48642550
    spiperone
    AntagonistAntagonist9.37475902
    U101958
    AntagonistAntagonist8.99098699
    haloperidol
    AntagonistAntagonist8.78102973 7862709
    L741742
    AntagonistAntagonist8.58642551
    apomorphine
    AgonistPartial agonist8.412388666
    [3H]NGD941
    AntagonistAntagonist8.39262371

    Selected Novoseek inferred chemical compound relationships for DRD4 gene (see all 56)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 87.9 471 12587848 (3), 10050966 (2), 10412189 (2), 10490700 (2) (see all 99)
    maoa 78.3 24 20218801 (3), 12773616 (2), 17918108 (2), 18239643 (1) (see all 16)
    clozapine 75.9 57 7944879 (7), 8693618 (4), 7737323 (3), 8866760 (2) (see all 29)
    fananserin 67.5 3 8957240 (3)
    raclopride 62.9 2 8248849 (1), 9765336 (1)
    melperone 62.7 1 8102973 (1)
    spiperone 59.6 4 9042615 (1), 9353380 (1), 7873121 (1), 9843378 (1)
    methylphenidate 55.4 24 17077808 (5), 10596245 (1), 10889550 (1), 17955457 (1) (see all 7)
    haloperidol 47.2 3 16288878 (1), 9042615 (1), 7873121 (1)
    apomorphine 42.6 2 8097160 (1), 10832611 (1)



    DRD4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DRD4 gene: 
    NM_000797.3  

    Unigene Cluster for DRD4:

    Dopamine receptor D4
    Hs.99922  [show with all ESTs]
    Unigene Representative Sequence: L12398
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000176183(uc001lqp.2) ENST00000528733
    miRNA
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    GenScript: all cDNA clones in your preferred vector: DRD4 (NM_000797)
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      QuantiTect SYBR Green Assays in human, mouse, rat DRD4
      QuantiFast Probe-based Assays in human, mouse, rat DRD4

    Additional mRNA sequence: 

    EU432112.1 L12398.1 S76942.1 

    3 DOTS entries:

    DT.97854770  DT.97854768  DT.100748281 

    22 AceView cDNA sequences:

    BM725264 NM_000797 BM674709 BM931265 BQ187919 CA418876 BF224406 BQ187417 
    BM929293 AI628607 BX282376 BQ188490 BE222894 H46232 BM694620 L12398 
    BM727107 BM713372 BM722840 BM929265 AA419163 BQ186689 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DRD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGTCCTGC
    DRD4 Expression
    About this image


    DRD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Cells Outer Nuclear Layer
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
             N2/LSB induced-cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Bone (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
    DRD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DRD4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99922
        Pathway & Disease-focused RT2 Profiler PCR Array including DRD4: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DRD4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Drd41 , 5 dopamine receptor D41, 5 82.34(n)1
    79.32(a)1
      7 (86.60 cM)5
    134911  NM_007878.21  NP_031904.11 
     1412920065 
    chicken
    (Gallus gallus)
    Aves DRD41 dopamine receptor D4 66.38(n)
    60.98(a)
      423016  NM_001142849.1  NP_001136321.1 
    lizard
    (Anolis carolinensis)
    Reptilia DRD46
    dopamine receptor D4
    58(a)
    1 ↔ 1
    1(74190534-74256891)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.62492 Xenopus laevis transcribed sequence with moderate similarity to protein spP21917 (H.sapiens) D4DR_HUMAN D(4) dopamine receptor (D(2C) dopamine receptor) less 77.6(n)    CD362987.1 
    zebrafish
    (Danio rerio)
    Actinopterygii drd4a1 dopamine receptor D4a 61.93(n)
    59.71(a)
      503564  NM_001012616.2  NP_001012634.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta D2R6
    Dopamine 2-like receptor
    23(a)
    1 → many
    X(19898715-19922226)
    worm
    (Caenorhabditis elegans)
    Secernentea dop-36
    dop-26
    Protein DOP-3, isoform d (dop-3) mRNA, complete cd...
    Protein DOP-2, isoform c (dop-2) mRNA, complete cd...
    20(a)
    15(a)
    many ↔ many
    many ↔ many
    X(6564175-6569518) WBGene00020506
    V(9608562-9614942) WBGene00001053


    ENSEMBL Gene Tree for DRD4 (if available)
    TreeFam Gene Tree for DRD4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DRD4 gene
    HTR2A2  DRD22  CHRM12  CHRM22  HRH32  HTR2B2  HRH42  HTR2C2  
    HRH12  CHRM52  DRD32  CHRM42  CHRM32  
    1 SIMAP similar gene for DRD4 using alignment to 81 protein entries:     DRD4_HUMAN (see all proteins):
    DRD3

    DRD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DRD4_HUMAN, P21917: The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and
    varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6
    (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.7. The
    polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G
    protein interaction


    Selected SNPs for DRD4 (see all 289)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004431,2,,4
    C,F,Hnon-pathogenic1639830(+) CGTGGT/GCTACT 2 /G /V mis1 ese316Minor allele frequency- G:0.02MN NS EA NA EU 6915
    rs1834300241,2
    --635342(+) GAGTTC/TGAGAC 1 -- us2k10--------
    rs1883678131,2
    --635356(+) CCTGGC/GCAATA 1 -- us2k10--------
    rs353833781,2
    C--635548(+) ATCTC-/AAAAAAA 1 -- us2k11Minor allele frequency- AA:0.00NA 2
    rs127881701,2
    F--635569(+) AAAAAC/ACAAAT 1 -- us2k1 tfbs3 trp31Minor allele frequency- A:0.50CSA 2
    rs734029531,2
    C,F--635637(+) TGTGTG/ACTGCA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1154809821,2
    C,F--635796(+) TCCATC/ACTGGG 1 -- us2k12Minor allele frequency- A:0.05WA NA 238
    rs1475406391,2
    --636047(+) GCCTGC/TGCACA 1 -- us2k10--------
    rs2020184721,2
    --636086(+) AGCCC-/TCGTGA 1 -- us2k10--------
    rs669716351,2
    C--636087(+) GCCCCG/-GTGAC 1 -- us2k11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for DRD4 (637293 - 640706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DRD4 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    esv2743857CNV Deletion23290073
    dgv920n71CNV Loss21882294
    nsv896545CNV Loss21882294
    nsv469923CNV Loss18288195
    dgv921n71CNV Loss21882294
    dgv936n71CNV Loss21882294
    dgv940n71CNV Loss21882294
    dgv935n71CNV Loss21882294
    nsv467635CNV Loss19166990

    Human Gene Mutation Database (HGMD): DRD4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DRD4
    DNA2.0 Custom Variant and Variant Library Synthesis for DRD4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 126452   
    OMIM disorders: 601696  143465  
    Selected diseases for DRD4 (see all 68):    
    About MalaCards
    pathological gambling    separation anxiety disorder    psychotic disorder    tic disorder
    conduct disorder    chronic tic disorder    delusional disorder    autonomic nervous system disease
    dependent personality disorder    attention deficit hyperactivity disorder    substance dependence    seasonal affective disorder
    heroin dependence    hyperprolactinemia    early-onset schizophrenia    tardive dyskinesia
    migraine without aura    mood disorder    myoclonus-dystonia    obsessive-compulsive disorder

    12 diseases from the University of Copenhagen DISEASES database for DRD4:
    Attention deficit hyperactivity disorder     Schizophrenia     Conduct disorder     Pathological gambling
    Delusional disorder     Heroin dependence     Substance abuse     Gilles de la Tourette syndrome
    Chronic tic disorder     Alcohol dependence     Nicotine dependence     Autistic disorder

    DRD4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for DRD4 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    novelty seeking personality trait 88.4 8 15292670 (1), 9723153 (1), 9152990 (1), 10898899 (1) (see all 6)
    attention-deficit hyperactivity disorder 88.3 103 16917940 (2), 20410729 (2), 9491811 (2), 15206004 (2) (see all 67)
    schizophrenia 68 127 9353244 (4), 8135305 (4), 11496369 (3), 8546161 (3) (see all 70)
    psychotic 52.5 37 10050966 (5), 10490703 (4), 17822780 (3), 10478793 (3) (see all 14)
    bipolar disorder 51.2 14 10490710 (3), 7914460 (2), 7853381 (1), 10646829 (1) (see all 11)
    heroin addiction 50.3 10 20218801 (3), 16167465 (1), 18991844 (1), 10673776 (1)
    psychiatric disorder 50.1 22 15981960 (3), 14581929 (1), 15985158 (1), 20305304 (1) (see all 13)
    tourette syndrome 48.4 6 10402503 (2), 9246007 (1), 7881421 (1), 8751866 (1) (see all 5)
    conduct disorder 42.5 4 15288435 (1), 11443528 (1), 17587443 (1)
    obsessive-compulsive disorder 41.7 4 12497615 (1), 9280153 (1)

    Genetic Association Database (GAD): DRD4
    Human Genome Epidemiology (HuGE) Navigator: DRD4 (410 documents)

    Export disorders for DRD4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DRD4 gene, integrated from 10 sources (see all 883):
    (articles sorted by number of sources associating them with DRD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Schizophrenia is not associated with DRD4 48-base-pair-repeat length or individual alleles: results of a meta-analysis. (PubMed id 13129658)1, 4, 7, 9 Glatt S.J....Tsuang M.T. (Biol. Psychiatry 2003)
    2. Dopamine D4 receptor gene exon III polymorphism and interindividual variation in response to clozapine. (PubMed id 16223700)1, 4, 7 Zhao A.L....Chen X.G. (Int. J. Neurosci. 2005)
    3. Associations of the dopamine D4 receptor gene VNTR polymorphism with drug use in adolescent psychiatric inpatients. (PubMed id 17175015)1, 4, 9 McGeary J.E....Monti P.M. (Pharmacol. Biochem. Behav. 2007)
    4. Exon 3 polymorphisms of dopamine D4 receptor (DRD4) gene and attention deficit hyperactivity disorder in Chinese children. (PubMed id 16917940)1, 4, 9 Cheuk D.K....Wong V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006)
    5. No association of the dopamine D4 receptor (DRD4) and -521 C/T promoter polymorphisms with infant attachment disorganization. (PubMed id 15513263)1, 4, 9 Bakermans-Kranenburg M.J. and Van Ijzendoorn M.H. (amp 2004)
    6. Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants. (PubMed id 12687422)1, 4, 9 De Luca A....Dallapiccola B. (Neurogenetics 2003)
    7. Interaction between serotonin transporter promoter and dopamine receptor D4 polymorphisms on decision making. (PubMed id 19615421)1, 4, 9 Ha R.Y....Kim S.J. (amp 2009)
    8. Dopamine D4 receptor (DRD4) gene polymorphism in the first psychotic episode. (PubMed id 11282178)1, 4, 9 Rinetti G....Nicolini H. (Arch. Med. Res. 2001)
    9. Relations between multi-informant assessments of ADHD symptoms, DAT1, and DRD4. (PubMed id 19025233)1, 4, 9 Gizer I.R....Rowe D.C. (J Abnorm Psychol 2008)
    10. Association of the dopamine D4 receptor (DRD4) gene and approach-related personality traits: meta-analysis and new data. (PubMed id 17574217)1, 4, 9 MunafA^ M.R....Flint J. (Biol. Psychiatry 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1815 HGNC: 3025 AceView: DRD4 Ensembl:ENSG00000069696 euGenes: HUgn1815
    ECgene: DRD4 Kegg: 1815 H-InvDB: DRD4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DRD4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DRD4 gene:
    Search GeneIP for patents involving DRD4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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