DRD4 dopamine receptor D4 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (637269..640706)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (685792..689369)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (637269..640706)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Humanized dopamine D4.7 receptor male mice display risk-taking behavior and deficits of social recognition and working memory in light/dark-dependent manner.
Title: Humanized dopamine D(4.7) receptor male mice display risk-taking behavior and deficits of social recognition and working memory in light/dark-dependent manner.
DRD4 VNTR 4/4 homozygosity as a genetic biomarker for treatment selection in patients with schizophrenia.
Title: DRD4 VNTR 4/4 homozygosity as a genetic biomarker for treatment selection in patients with schizophrenia.
Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia.
Title: Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia.
Variation in the Dopamine-4-Receptor Gene in Patients with Type 1 Diabetes.
Title: Variation in the Dopamine-4-Receptor Gene in Patients with Type 1 Diabetes.
The impact of dopamine receptor D4, temperamental negativity, and household chaos on young twins' externalizing behaviors.
Title: The impact of dopamine receptor D4, temperamental negativity, and household chaos on young twins' externalizing behaviors.
The effect of the 7R allele at the DRD4 locus on risk tolerance is independent of background risk in Senegalese fishermen.
Title: The effect of the 7R allele at the DRD4 locus on risk tolerance is independent of background risk in Senegalese fishermen.
Disordered eating in early childhood: DRD4 and DAT1 gene polymorphisms and quality of mother-child interaction.
Title: Disordered eating in early childhood: DRD4 and DAT1 gene polymorphisms and quality of mother-child interaction.
DRD4 polymorphism associated with greater positive affect in response to negative and neutral social stimuli.
Title: DRD4 polymorphism associated with greater positive affect in response to negative and neutral social stimuli.
Chronic pain and delinquency partially explain the effect of the DRD4 gene polymorphism on adult substance use.
Title: Chronic pain and delinquency partially explain the effect of the DRD4 gene polymorphism on adult substance use.
Genetic Polymorphisms in DRD4 and Risk for Parkinson's Disease Among Eastern Indians.
Title: Genetic Polymorphisms in DRD4 and Risk for Parkinson's Disease Among Eastern Indians.

Submit: New GeneRIF Correction See all GeneRIFs (503)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary attention deficit-hyperactivity disorder MedGen: CN324066 OMIM: 143465 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC117557P1 (e-PCR)
- UniSTS:270336

GDB:311107 (e-PCR)
- UniSTS:156424

RH27290 (e-PCR)
- UniSTS:92428

PMC130047P1 (e-PCR)
- UniSTS:270608

PMC130047P2 (e-PCR)
- UniSTS:270609

GDB:374242 (e-PCR)
- UniSTS:156953

RH71428 (e-PCR)
- UniSTS:75104

NoName (e-PCR)
- UniSTS:483806

GDB:196985 (e-PCR)
- UniSTS:155903

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

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-modulating G protein-coupled 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 arachidonate 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 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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating dopamine receptor signaling pathway	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 dopamine uptake involved in synaptic transmission	IC Inferred by Curator 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

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Preferred Names: D(4) dopamine receptor

Names: D(2C) dopamine receptor; dopamine D4 receptor; seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

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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

NG_021241.1 RefSeqGene

Range

4965..8402

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000797.4 → NP_000788.2 D(4) dopamine receptor

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:38 → 411

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