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Relevance to Autism

Case-control and family-based association analysis of the DRD2 gene in a cohort of 112 male-only affected sib-pair ASD families and a comparison cohort of 253 controls revealed an increased frequency of the rs1800498 TT genotype in affected males compared to the comparison group (p=0.007) (Hettinger et al., 2012). Family-based assocation tests in the same report showed that the rs1800498 T allele was over-transmitted to affected males (p=0.0003) under an additive model.

Molecular Function

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status ...
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Positive Association
Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN358R001 
 missense_variant 
 c.1079G>A 
 p.Arg360His 
 Unknown 
  
 Unknown 
 GEN358R002 
 missense_variant 
 c.1228G>A 
 p.Ala410Thr 
 Unknown 
  
 Unknown 
 GEN358R003 
 missense_variant 
 c.152G>A 
 p.Gly51Asp 
 De novo 
  
 Unknown 
 GEN358R004 
 stop_gained 
 c.1151G>A;c.1238G>A 
 p.Trp384Ter;p.Trp413Ter 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN358C001 
 intron_variant 
 rs1800498 
 c.286-2730C>T;c.290-2737C>T 
  
 Canada, the South Carolina Autism Project, and AGRE 
 Discovery 
 GEN358C002 
 5KB_downstream_variant 
 rs2242592 
  
 T/C 
 AGRE and SSC 
 Discovery 
 GEN358C003 
 intron_variant 
 rs4581480 
 c.-32+21324G>A;c.-32+21906G>A 
 T/C 
 AGRE and SSC 
 Discovery 
 GEN358C004 
 intergenic_variant 
 rs2514218 
 G>A 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ADORA2A adenosine A2a receptor 135 P29274 IP/WB; Bioluminescence resonance energy transfer assay
Kamiya T , et al. 2003
ADORA2A adenosine A2a receptor 135 P29274 bimolecular fluorescence complementation assay; Bioluminescence resonance energy transfer assay; Proximity ligation assay
Bonaventura J , et al. 2015
AKT1 v-akt murine thymoma viral oncogene homolog 1 207 P31749 IP/WB
Sutton LP and Rushlow WJ 2011
ARR3 arrestin 3, retinal (X-arrestin) 407 P36575 Bioluminescence resonance energy transfer assay
Gimenez LE , et al. 2012
CADPS Ca++-dependent secretion activator 8618 Q9ULU8 Y2H; GST; IP/WB
Binda AV , et al. 2005
CADPS2 Ca++-dependent secretion activator 2 93664 Q86UW7 Y2H
Binda AV , et al. 2005
COLEC12 collectin sub-family member 12 81035 Q5KU26 IP; LC-MS/MS
Huttlin EL , et al. 2015
DRD1 dopamine receptor D1 1812 P21728 IP/WB
Lee SP , et al. 2004
DVL3 dishevelled, dsh homolog 3 (Drosophila) 1857 Q92997 IP/WB
Sutton LP and Rushlow WJ 2011
EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 2035 P11171 Y2H
Binda AV , et al. 2002
EPB41L1 erythrocyte membrane protein band 4.1-like 1 2036 B7Z653 GST; Y2H; IP/WB
Binda AV , et al. 2002
EPB41L2 erythrocyte membrane protein band 4.1-like 2 2037 O43491 Y2H
Binda AV , et al. 2002
EPB41L3 erythrocyte membrane protein band 4.1-like 3 23136 Q9Y2J2 Y2H
Binda AV , et al. 2002
FLNA filamin A, alpha 2316 P21333 Y2H; GST
Li M , et al. 2000
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) 2861 O15354 IP/WB
Dunham JH , et al. 2009
GSK3A glycogen synthase kinase 3 alpha 2931 P49840 IP/WB
Sutton LP and Rushlow WJ 2011
GSK3B glycogen synthase kinase 3 beta 2932 P49841 IP/WB
Sutton LP and Rushlow WJ 2011
KCNJ3 potassium inwardly-rectifying channel, subfamily J, member 3 3760 B4DEW7 IP/WB
Lavine N , et al. 2002
KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 3762 P48544 IP/WB
Lavine N , et al. 2002
KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 3763 P48051 IP/WB
Lavine N , et al. 2002
KLF11 Kruppel-like factor 11 8462 B7ZAX4 ChIP
Seo S , et al. 2012
MSRA methionine sulfoxide reductase A 4482 Q9UJ68 IP; LC-MS/MS
Huttlin EL , et al. 2015
NCS1 neuronal calcium sensor 1 23413 E9PAY3 GST; Y2H; IP/WB
Kabbani N , et al. 2002
NDFIP1 Nedd4 family interacting protein 1 80762 Q9BT67 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRMT5 protein arginine methyltransferase 5 10419 O14744 in vitro methylation assay
Likhite N , et al. 2015
SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 6531 Q01959 IP/WB; GST; in vitro binding assay
Lee FJ , et al. 2007
SSTR5 somatostatin receptor 5 6755 P35346 FRET
Rocheville M , et al. 2001
TRPC1 transient receptor potential cation channel, subfamily C, member 1 7220 P48995 Y2H; GST; IP/WB
Hannan MA , et al. 2008
TRPC4 transient receptor potential cation channel, subfamily C, member 4 7223 Q9UBN4 Y2H; IP/WB
Hannan MA , et al. 2008
TRPC5 transient receptor potential cation channel, subfamily C, member 5 7224 Q9UL62 Y2H
Hannan MA , et al. 2008
WDR45 WD repeat domain 45 11152 Q9Y484 IP; LC-MS/MS
Huttlin EL , et al. 2015
WNT5A wingless-type MMTV integration site family, member 5A 7474 P41221 IP/WB; GST; in vitro binding assay
Yoon S , et al. 2011
ZRANB2 zinc finger, RAN-binding domain containing 2 9406 O95218 Biolayer interferometry; in vivo splicing assay
Biolayer interferometry; in vivo splicing assay
Cohen OS , et al. 2015
Ghsr growth hormone secretagogue receptor 208188 Q0VBE5 FRET
Kern A , et al. 2012
TAAR1 trace amine-associated receptor 1 134864 Q96RJ0 Bioluminescence resonance energy transfer assay
Espinoza S , et al. 2011
Clic6 chloride intracellular channel 6 304081 Q811Q2 Y2H
Griffon N , et al. 2003
Egfr epidermal growth factor receptor 24329 Q9QX70 IP/WB
Nair VD and Sealfon SC 2003
Gipc1 GIPC PDZ domain containing family, member 1 83823 Q9Z254 Y2H
Jeanneteau F , et al. 2003
Gria2 glutamate receptor, ionotropic, AMPA 2 29627 P19491 IP/WB; GST
Zou S , et al. 2005
GRM5 glutamate receptor, metabotropic 5 24418 P31424 IP/WB; Bioluminescence resonance energy transfer assay; Bimolecular fluorescence complementation assay; Sequential resonance energy transfer (SRET)
Cabello N , et al. 2009
Hnrnpm heterogeneous nuclear ribonucleoprotein M 116655 F1M3D3 EMSA; UV-cross-linking assay
Park E , et al. 2011
Nova1 neuro-oncological ventral antigen 1 298992 D4AAF8 EMSA; UV-cross-linking assay
Park E , et al. 2011
Nsf N-ethylmaleimide-sensitive factor 60355 Q9QUL6 IP/WB; GST; in vitro binding assay
Zou S , et al. 2005
Ppp1r9b protein phosphatase 1, regulatory subunit 9B 84686 O35274 Y2H; GST; in vitro binding assay
Smith FD , et al. 1999
Src v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 83805 Q9JJ10 IP/WB
Nair VD and Sealfon SC 2003

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