SLC6A3 (solute carrier family 6 member 3)

2007-02-01  

Identity

HGNC
SLC6A3
LOCATION
5p15.33
LOCUSID
6531
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
substantia nigra
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
375786792024Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.1
375786792024Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children.1
367545672023A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3).1
369120832023Striatal dopamine transporter and receptor availability correlate with relative cerebral blood flow measured with [(11)C]PE2I, [(18)F]FE-PE2I and [(11)C]raclopride PET in healthy individuals.0
374108822023Structure-Based Discovery of a Novel Allosteric Inhibitor against Human Dopamine Transporter.2
374592442023Effects of STN-DBS surgery on cerebral glucose metabolism and distribution of DAT in Parkinson's disease.1
376285762023LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.1
377261042023Association between longitudinal changes in striatal dopamine transporter uptake and clinical features of dementia with Lewy bodies.1
367545672023A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3).1
369120832023Striatal dopamine transporter and receptor availability correlate with relative cerebral blood flow measured with [(11)C]PE2I, [(18)F]FE-PE2I and [(11)C]raclopride PET in healthy individuals.0
374108822023Structure-Based Discovery of a Novel Allosteric Inhibitor against Human Dopamine Transporter.2
374592442023Effects of STN-DBS surgery on cerebral glucose metabolism and distribution of DAT in Parkinson's disease.1
376285762023LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.1
377261042023Association between longitudinal changes in striatal dopamine transporter uptake and clinical features of dementia with Lewy bodies.1
348456562022Functional SLC6A3 polymorphisms differentially affect autism spectrum disorder severity: a study on Indian subjects.3

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