BDgene

Gene Report

Basic Info
Approved Symbol SLC6A3
Previous Symbol DAT1
Symbol Alias DAT
Approved Name solute carrier family 6 (neurotransmitter transporter), member 3
Previous Name solute carrier family 6 (neurotransmitter transporter, dopamine), member 3, "dopamine transporter 1"
Name Alias dopamine transporter
Location 5p15.3
Position chr5:1392790-1445430, -1
External Links HGNC: 11049
Entrez Gene: 6531
Ensembl: ENSG00000142319
UCSC: uc003jck.3
No. of Studies 11 (Positive: 5; Negative: 6; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 11)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Stober, G., 2006 SNP: rs2617596, rs2652511, rs2975226, rs6413429
Other variant: SLC6A3_1436209 C>G
In conclusion, our data do not provide evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder. A minor contribution of distinct genotypes may be possible and warrants replication in extended samples. Negative Comment on Study
Mick, E., 2008 SNP: rs11133767, rs11564767, rs11564773, rs11737901, rs12516758, rs246995, rs2617605, rs2652510, rs27048, rs27072, rs27074, rs2735917, rs2963238, rs2975292, rs37022, rs3756450, rs3776512, rs3863145, rs40184, rs403636, rs456082, rs460000, rs464049, rs464528, rs4975646, rs6350
Other variant: rs10064525
Results indicated nominally positive association for 4 SNPs (rs40184, rs11133767, rs3776512, and rs464049), but only rs40184 survived correction formultiple statistical comparisons (P=0.038). . These data provide suggestive evidence supporting a role for SLC6A3 in the etiology of pediatric bipolar disorder. Positive Comment on Study
Bocchetta, A.,1999 Other variant: DAT_40bp repeat Using TDT, no significant differences were found with regard to DRD4, DRD2, DAT, and SERT polymorphism. Negative Comment on Study
Kirov, G.,1999(a) Other variant: DAT_VNTR No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied. Negative Comment on Study
Pinsonneault, J. K.,2011 SNP: rs27072, rs28363170, rs37022, rs3836790, rs40184, rs464049, rs6347 This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder. Positive Comment on Study
Greenwood, T. A.,2001 Haplotype: (DAT_E15+274G/C) - (DAT_E15+352G/A) - (DAT_E15+1812T/C)(), (DAT_E9+59A/G) - (DAT_I9+102G/T)(), (DAT_E9+59A/G) - (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_E15+274G/C) - (DAT_E15+1812T/C)(), (DAT_I1+1036C/A) - (DAT_I1+1736G/A)(), (DAT_I1+1860A/G) - (DAT_I1+1861G/A) - (DAT_I2+48G/A)(), (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_I10+117G/A)(), (DAT_I9+102G/T) - (DAT_I9-21G/A) - (DAT_I10+117G/A) - (DAT_E15+274G/C) - (DAT_E15+352G/A) - (DAT_E15+1812T/C)(), (DAT_P+214A/G) - (DAT_I1+1036C/A) - (DAT_I1+1736G/A) - (DAT_I1+1860A/G) - (DAT_I2+48G/A) - (DAT_I6+96G/C)()
Other variant: DAT_E15+1812T/C, DAT_E15+274G/C, DAT_E15+352G/A, DAT_I10+117G/A, DAT_I6+96G/C, DAT_I9-21G/A, DAT_P+214A/G, DAT_VNTR
These data replicate our previous finding of linkage to markers within and near DAT in a largely different family set, and provide further evidence for a role of DAT in bipolar disorder. Positive Comment on Study
Grunhage, F.,2000 Other variant: SLC6A3_1342A/G, SLC6A3_1398-21G/A, SLC6A3_1398-56A/G, SLC6A3_1626+14G/A, SLC6A3_1859C/T, SLC6A3_1967+29insTC, SLC6A3_242C/T, SLC6A3_547-12C/A, SLC6A3_Ala559Val, SLC6A3_Glu602Gly No significant association was observed in BD. Negative Comment on Study
Souery, D.,1996(b) Other variant: DAT_VNTR Association and linkage disequilibrium were excluded between bipolar affective disorder and these four candidate genes in our sample. Negative Comment on Study
Ohadi, M., 2007 Other variant: SLC6A3_-67A/T These findings imply gender dimorphism with respect to the DAT1 -67 alleles and susceptibility to disease Positive Comment on Study
Kelsoe, J. R.,1996 Other variant: D5S392, HDAT-PCR1 These results suggest the presence of a susceptibility locus for bipolar disorder near the DAT locus on chromosome 5. Positive Comment on Study
Manki, H.,1996 Other variant: DAT_40bp repeat 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
Gene functional annotation
Gene related GO terms (count: 40)

GO terms by PBA (count: 5)

GO terms by database search (count: 35)


Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Related other genetic factors
Gene related SNPs (count: 59)

Literature-origin SNPs (count: 33)

LD-proxies (count: 26)


Gene related CNVs (count: 0)

Gene related other variants (count: 33)

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: 1)

Overlap with SZ from candidate gene intersection analysis (count: 30)


Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 1)


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Region: chr5:1392790..1445430 View in gBrowse
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