SLC6A3 (solute carrier family 6 member 3)

2007-02-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
DAT,DAT1,PKDYS,PKDYS1

Other Information

Locus ID:

NCBI: 6531
MIM: 126455
HGNC: 11049
Ensembl: ENSG00000142319

Variants:

dbSNP: 6531
ClinVar: 6531
TCGA: ENSG00000142319
COSMIC: SLC6A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142319ENST00000270349Q01959

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Parkinson's diseaseKEGGhsa05012
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Cocaine addictionKEGGhsa05030
Cocaine addictionKEGGko05030
Amphetamine addictionKEGGhsa05031
Amphetamine addictionKEGGko05031
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Clearance In The Synaptic CleftREACTOMER-HSA-112311
Dopamine clearance from the synaptic cleftREACTOMER-HSA-379401
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Na+/Cl- dependent neurotransmitter transportersREACTOMER-HSA-442660

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseVariantAnnotationambiguousPD
PA443842DeathDiseaseVariantAnnotationassociatedPD
PA445254Parkinson DiseaseDiseaseClinicalAnnotationassociatedPD25805645
PA446878Cocaine-Related DisordersDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD20580759
PA448073ethanolChemicalClinicalAnnotation, VariantAnnotationambiguousPD28182634
PA449061clozapineChemicalClinicalAnnotationassociatedPD20580759
PA449072cocaineChemicalVariantAnnotationassociatedPD
PA449376disulfiramChemicalClinicalAnnotationassociatedPD
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437
PA450213levodopaChemicalClinicalAnnotationassociatedPD25805645

References

Pubmed IDYearTitleCitations
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
178937062009Genetic variation in components of dopamine neurotransmission impacts ventral striatal reactivity associated with impulsivity.157
168943952006The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.153
168943952006The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.153
191040492009Variation in dopamine genes influences responsivity of the human reward system.135
119114422001The VNTR polymorphism of the human dopamine transporter (DAT1) gene affects gene expression.111
179078202007Food reinforcement, the dopamine D2 receptor genotype, and energy intake in obese and nonobese humans.105
124573962002Expression of the dopamine transporter gene is regulated by the 3' UTR VNTR: Evidence from brain and lymphocytes using quantitative RT-PCR.100
174834512007Gene-gene interaction associated with neural reward sensitivity.100

Citation

Dessen P

SLC6A3 (solute carrier family 6 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43591/slc6a3-(solute-carrier-family-6-member-3)