Gene Report

Basic Info
Approved Symbol DRD4
Approved Name dopamine receptor D4
Location 11p15.5
Position chr11:637293-640706, 1
External Links HGNC: 3025
Entrez Gene: 1815
Ensembl: ENSG00000069696
UCSC: uc001lqp.2
No. of Studies 13 (Positive: 1; Negative: 12; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 13)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Perez de Castro, I.,1994 Other variant: DRD4_48bp repeat X<sup>2</sup> = 2.9, df = 4, P-value = 0.57.. No significant association between bipolar affective disorder and DRD4 was found. Negative Comment on Study
Fallin, M. D.,2005 1 SNP typed, Median D'=…, Median r<sup>2</sup> =…, … LD blocks, … block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP. Negative Comment on Study
Leszczynska-Rodziewicz, A.,2005 Other variant: DRD4_-521T/C The results suggests that the studied gene variants of type D2 dopamine receptors are not promising candidate genes for bipolar affective illness. Negative Comment on Study
Lopez Leon, S.,2005 Other variant: DRD4_exon3_VNTR No evidence of significant association was found in BP group. Negative Comment on Study
De bruyn, A.,1994 Other variant: DRD4_HincII Polymorphism Two-point linkage results excluded close linkage of bipolar illness to each candidate gene, and negative linkage results were obtained with the candidate genes DRD4, TH, TYR, and DRD2 under different genetic and phenotypic conditions Negative Comment on Study
Li, T.,1999 Other variant: DRD4_exon3_VNTR We also report a novel, rare one-repeat variant of the DRD4 exon 3 VNTR repeat in Chinese populations, which appears to be absent in Caucasians and is not associated with disease. Negative Comment on Study
Manki, H.,1996 Other variant: DRD4_exon3_VNTR Our results suggest that there is a significant association between the dopamine D4 receptor gene and mood disorders, especially major depression, but no association between the other polymorphisms and mood disorders. Negative Comment on Study
Szczepankiewicz, A., 2007 Other variant: DRD4_-521T/C We have not found any significant differences in genotype distribution of the polymorphisms of this dopamine gene between bipolar disorder patients with/without comorbid alcohol abuse and controls. Negative Comment on Study
Oruc, L., 1997 (a) Other variant: DRD4_2-10 allele Therefore, the hypothesis that the tyrosine hydroxylase and the dopamine D4 receptor genes may be involved in the etiology of bipolar disorder and unipolar recurrent major depression is not supported in our study. Negative Comment on Study
Serretti, A.,2002 Other variant: DRD4_exon3_VNTR Our study did not support the involvement of 5-HTTLPR, TPH, MAO-A, or DRD4 polymorphisms in bipolar disorder. Negative Comment on Study
Muglia, P.,2002 Other variant: DRD4_exon3_VNTR Although replication of our study is necessary, the fact that DRD4 exhibit POE and is located on 11p15.5, in close proximity to a cluster of imprinted genes, suggests that genomic imprinting may be operating in bipolar disorder. Positive Comment on Study
Serretti, A.,2001(b) Other variant: DRD4_exon3_VNTR DRD4 allele and genotype frequencies in bipolars were not significantly different from controls. Negative Comment on Study
Bocchetta, A.,1999 Other variant: DRD4_exon3_VNTR Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 55)

GO terms by PBA (count: 6)

GO terms by database search (count: 49)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Overlap with SZ from candidate gene intersection analysis (count: 49)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 4)

Overlap with MDD from candidate gene intersection analysis (count: 2)

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Region: chr11:637293..640706 View in gBrowse
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