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Relevance to Autism

Genetic association has been found between the DRD3 gene and autism in the Dutch and UK populations (de Krom et al., 2009).

Molecular Function

This gene encodes the D3 subtype of dopamine receptor

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A common variant in DRD3 receptor is associated with autism spectrum disorder.
ASD
ADHD
Positive Association
DRD3 gene and striatum in autism spectrum disorder.
ASD
Striatal volume
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
BDNF controls dopamine D3 receptor expression and triggers behavioural sensitization.
Highly Cited
Dopamine D3 receptor mutant mice exhibit increased behavioral sensitivity to concurrent stimulation of D1 and D2 receptors.
Highly Cited
Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
Recent Recommendation
Dopamine receptor-mediated regulation of neuronal clock gene expression.
Recent Recommendation
Nucleus accumbens D2/3 receptors predict trait impulsivity and cocaine reinforcement.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN075R001 
 synonymous_variant 
 c.987A>G 
 p.Gln329%3D 
 Unknown 
  
 Unknown 
 GEN075R002 
 missense_variant 
 c.448G>A 
 p.Val150Met 
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN075C001 
 intron_variant 
 rs167771 
 c.383+2327C>T 
  
 Dutch, UK 
 Discovery 
 GEN075C002 
 intron_variant 
 rs167771 
 c.383+2327C>T 
  
 86 participants with ASD (DSM-IV-TR criteria) 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion-Duplication
 2
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion
 6
 
3
Deletion
 1
 
3
Deletion-Duplication
 17
 

Model Summary

D3 receptors play an inhibitory role in the control of certain behaviors.

References

Type
Title
Author, Year
Primary
A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice.
Additional
Dopamine D3 receptor mutant mice exhibit increased behavioral sensitivity to concurrent stimulation of D1 and D2 receptors.

M_DRD3_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeted homologous recombination of exon 2 of Drd3 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/sv
Genetic Background: Not Specified
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DRD3_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene targeted homologous recombination of exon 2 of Drd3 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/sv
Genetic Background: Not Specified
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DRD3_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeted deltion of exon 1 of the Drd3 gene and replaced with a neo gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: B6xDBA2
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DRD3_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social interaction1
Decreased
Description: Decreased exploratory activity
Exp Paradigm: Open field test
 Open field test
 Unreported
Protein binding1
Decreased
Description: Absence of Drd3 binding to receptor antagonist in the islands of Calleja
Exp Paradigm: Drd3 Binding
 Autoradiographic analysis
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_DRD3_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein binding1
Decreased
Description: Decrease in Drd3 binding to receptor antagonist in the islands of Calleja
Exp Paradigm: Drd3 Binding
 Autoradiographic analysis
 Unreported
Social interaction1
 No change
 Open field test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_DRD3_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotor activity during first 5 minutes of the test indicating response to novel environment
Exp Paradigm: Male Mice:Automated locomotor activity chamber
 Light-dark exploration test
 9-16 weeks
General locomotor activity1
Increased
Description: Increased locomotor activity in response to low doses of cocaine
Exp Paradigm: Male Mice:Automated locomotor activity chamber after treatment with cocaine
 Light-dark exploration test
 9-16 weeks
General locomotor activity1
Increased
Description: Increased locomotor activity in response to coadministering D1 and D2 class agonists
Exp Paradigm: Male Mice:Automated locomotor activity chamber after co-administration of 1.5 mg/kg PD128907 and 3.0mg/kg SKF 81297 i.p.
 Light-dark exploration test
 9-16 weeks
General locomotor activity1
Increased
Description: Increased locomotor activity in mice treated with reserpine in response to coadministering D1 and D2 class agonists
Exp Paradigm: Male Mice:Automated locomotor activity chamber after pretreatment with reserpine followed by co-administration of 1.5 mg/kg PD128907 and 3.0mg/kg SKF 81297 i.p.
 Light-dark exploration test
 9-16 weeks
Cued or contextual fear conditioning: memory of context1
Increased
Description: Increased preference for the test compartment paired with amphetamine
Exp Paradigm: Male Mice:Conditioned Cue Preference paradigm with amphetamine as the reinforcing drug
 Fear conditioning test
 9-16 weeks
General characteristics1
 No change
 General observations
 9-16 weeks
Anxiety1
 No change
 Elevated plus maze test
 9-16 weeks
Protein expression level evidence1
 No change
 Autoradiographic analysis
 9-16 weeks
General locomotor activity1
 No change
 Light-dark exploration test
 9-16 weeks
Neurotransmitter release1
 No change
 Immunostaining
 9-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
EPB41L1 erythrocyte membrane protein band 4.1-like 1 2036 B7Z653 Y2H; IP/WB
Binda AV , et al. 2002
GRB2 growth factor receptor-bound protein 2 2885 P62993 GST; IP/WB
Oldenhof J , et al. 2001
NCS1 neuronal calcium sensor 1 23413 E9PAY3 GST; IP/WB
Kabbani N , et al. 2002
CLIC6 chloride intracellular channel 6 304081 Q811Q2 Y2H; GST; IP/WB
Griffon N , et al. 2003
FLNA filamin A, alpha 2316 P21333 Y2H; GST; IP/WB
Li M , et al. 2002
GIPC1 GIPC PDZ domain containing family, member 1 83823 Q9Z254 Y2H
Griffon N , et al. 2003
MPDZ multiple PDZ domain protein 29365 O55164 Y2H
Griffon N , et al. 2003
RDX E9PT65 Y2H
Griffon N , et al. 2003

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