This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit h... See more...

Aliases for SLC6A3 Gene

Aliases for SLC6A3 Gene

  • Solute Carrier Family 6 Member 3 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 3 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 3 2 3
  • Sodium-Dependent Dopamine Transporter 3 4
  • Dopamine Transporter 1 2 3
  • DA Transporter 3 4
  • DAT1 3 4
  • DAT 3 4
  • Dopamine Transporter 2
  • PKDYS1 3
  • PKDYS 3

External Ids for SLC6A3 Gene

Previous HGNC Symbols for SLC6A3 Gene

  • DAT1

Previous GeneCards Identifiers for SLC6A3 Gene

  • GC05P001491
  • GC05M001531
  • GC05M001425
  • GC05M001445
  • GC05M001423
  • GC05M001374

Summaries for SLC6A3 Gene

Entrez Gene Summary for SLC6A3 Gene

  • This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]

GeneCards Summary for SLC6A3 Gene

SLC6A3 (Solute Carrier Family 6 Member 3) is a Protein Coding gene. Diseases associated with SLC6A3 include Parkinsonism-Dystonia, Infantile, 1 and Tobacco Addiction. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein N-terminus binding. An important paralog of this gene is SLC6A2.

UniProtKB/Swiss-Prot Summary for SLC6A3 Gene

  • Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.

Tocris Summary for SLC6A3 Gene

  • Dopamine transporters (DAT) are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) widely distributed throughout the brain in areas of dopaminergic activity, including the striatum and substantia nigra. They provide rapid clearance of dopamine.

Gene Wiki entry for SLC6A3 Gene

Additional gene information for SLC6A3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC6A3 Gene

Genomics for SLC6A3 Gene

GeneHancer (GH) Regulatory Elements for SLC6A3 Gene

Promoters and enhancers for SLC6A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J001445 Promoter 0.8 EPDnew Ensembl 766.6 -0.1 -60 0.6 POLR2A EZH2 SLC6A3 HSALNG0039557
GH05J001469 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 23.7 -24.6 -24584 2 RBPJ SP1 RXRA POLR2A SOX13 RFX1 FOS SAP130 HNF4A RAD21 SLC6A3 LPCAT1 SLC6A18 ENSG00000250173 SLC12A7 HSALNG0039557
GH05J001521 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -77.8 -77790 3.9 POLR2A MYC HLF L3MBTL2 MAX MNT NKRF ZFX AHR MLLT1 LPCAT1 SLC6A3 ENSG00000232615 hsa-miR-5095-386
GH05J001484 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -42.4 -42443 7.7 ZNF24 SP1 ETV6 RELA MAX NKRF MLLT1 POLR2A ZNF687 CREM LPCAT1 SLC6A3 BRD9 ENSG00000232615 SLC12A7 lnc-SLC6A18-6 HSALNG0039557
GH05J001312 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 14.1 +130.5 130487 5.6 PPP1R10 SP1 CTCF FOXA1 POLR2A TCF7L2 NR2F6 MYC ETV6 MAX SLC6A3 ENSG00000232615 EXOC3 SLC6A18 BRD9 TERT piR-33614-217 lnc-TERT-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A3 gene promoter:
  • E47
  • Nkx2-2
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • POU2F1
  • POU2F1a
  • STAT3
  • YY1

Genomic Locations for SLC6A3 Gene

Genomic Locations for SLC6A3 Gene
chr5:1,392,790-1,445,440
(GRCh38/hg38)
Size:
52,651 bases
Orientation:
Minus strand
chr5:1,392,905-1,445,545
(GRCh37/hg19)
Size:
52,641 bases
Orientation:
Minus strand

Genomic View for SLC6A3 Gene

Genes around SLC6A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A3 Gene

Proteins for SLC6A3 Gene

  • Protein details for SLC6A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01959-SC6A3_HUMAN
    Recommended name:
    Sodium-dependent dopamine transporter
    Protein Accession:
    Q01959
    Secondary Accessions:
    • A2RUN4
    • Q14996

    Protein attributes for SLC6A3 Gene

    Size:
    620 amino acids
    Molecular mass:
    68495 Da
    Quaternary structure:
    • Homooligomer; disulfide-linked (Ref.14). Interacts with PRKCABP and TGFB1I1 (PubMed:11343649, PubMed:12177201). Interacts (via N-terminus) with SYNGR3 (via N-terminus). Interacts with SLC18A2. Interacts with TOR1A (ATP-bound); TOR1A regulates SLC6A3 subcellular location (By similarity). Interacts with alpha-synuclein/SNCA (PubMed:26442590).
    Miscellaneous:
    • This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

neXtProt entry for SLC6A3 Gene

Post-translational modifications for SLC6A3 Gene

  • Glycosylation at Asn181, Asn188, and Asn205
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A3 Gene

Domains & Families for SLC6A3 Gene

Gene Families for SLC6A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC6A3 Gene

GenScript: Design optimal peptide antigens:
  • Transporter (A2RUN4_HUMAN)
  • Dopamine transporter (Q6LC27_HUMAN)
  • DAT1 protein (Q99494_HUMAN)
  • Dopamine transporter (Q9Y610_HUMAN)
  • Solute carrier family 6 member 3 (SC6A3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01959

UniProtKB/Swiss-Prot:

SC6A3_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.
genes like me logo Genes that share domains with SLC6A3: view

Function for SLC6A3 Gene

Molecular function for SLC6A3 Gene

UniProtKB/Swiss-Prot Function:
Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals.
GENATLAS Biochemistry:
solute carrier family 6,member A3,neurotransmitter transporter,dopamine,unlikely involved in Gilles de la Tourette syndrome,inconsistent evidence for involvement in bipolar effective disorder

Phenotypes From GWAS Catalog for SLC6A3 Gene

Gene Ontology (GO) - Molecular Function for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005102 signaling receptor binding IEA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005330 dopamine:sodium symporter activity IDA 15505207
GO:0005515 protein binding IPI 11343649
genes like me logo Genes that share ontologies with SLC6A3: view
genes like me logo Genes that share phenotypes with SLC6A3: view

Human Phenotype Ontology for SLC6A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC6A3 Gene

MGI Knock Outs for SLC6A3:

Animal Model Products

CRISPR Products

miRNA for SLC6A3 Gene

miRTarBase miRNAs that target SLC6A3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC6A3 Gene

Localization for SLC6A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10823899
GO:0005886 plasma membrane TAS,IBA --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface IDA,IEA 21399631
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC6A3: view

Pathways & Interactions for SLC6A3 Gene

genes like me logo Genes that share pathways with SLC6A3: view

Gene Ontology (GO) - Biological Process for SLC6A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0007568 aging IEA --
GO:0007595 lactation IEA --
GO:0007608 sensory perception of smell IEA --
genes like me logo Genes that share ontologies with SLC6A3: view

No data available for SIGNOR curated interactions for SLC6A3 Gene

Drugs & Compounds for SLC6A3 Gene

(155) Drugs for SLC6A3 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mazindol Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor 3
Amphetamine Approved, Illicit, Investigational Pharma Target, negative modulator, antagonist 146
Bupropion Approved Pharma Target, inhibitor 368
Cocaine Approved, Illicit Pharma Target, inhibitor 587
Dexmethylphenidate Approved, Investigational Pharma Target, inhibitor 0

(37) Additional Compounds for SLC6A3 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
GBR 12909 dihydrochloride
67469-78-7

(5) Tocris Compounds for SLC6A3 Gene

Compound Action Cas Number
Cocaine hydrochloride Inhibitor of monoamine transporters 53-21-4
GBR 12909 dihydrochloride Selective DA uptake inhibitor. Also sigma ligand 67469-78-7
Mephedrone hydrochloride Inhibits synaptosomal dopamine and 5-HT uptake 1189726-22-4
Nomifensine Potent noradrenalin and dopamine uptake inhibitor. Antidepressant 32795-47-4
Threo-methylphenidate hydrochloride Inhibitor of dopamine and noradrenalin transporters. Psychomotor stimulant 298-59-9

(8) ApexBio Compounds for SLC6A3 Gene

Compound Action Cas Number
Atomoxetine HCl Noradrenalin re-uptake inhibitor 82248-59-7
CHC 28166-41-8
Desipramine hydrochloride 58-28-6
Mofegiline hydrochloride 120635-25-8
NBI-98782 85081-18-1
NBI-98854 171598-74-6
Nisoxetine hydrochloride 57754-86-6
Reserpine hydrochloride 16994-56-2
genes like me logo Genes that share compounds with SLC6A3: view

Transcripts for SLC6A3 Gene

mRNA/cDNA for SLC6A3 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A3 Gene

No ASD Table

Relevant External Links for SLC6A3 Gene

GeneLoc Exon Structure for
SLC6A3
ECgene alternative splicing isoforms for
SLC6A3

Expression for SLC6A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A3 Gene

This gene is overexpressed in Brain - Substantia nigra (x47.0).

Protein differential expression in normal tissues from HIPED for SLC6A3 Gene

This gene is overexpressed in Heart (52.2) and Frontal cortex (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC6A3 Gene



Protein tissue co-expression partners for SLC6A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC6A3 Gene:

SLC6A3

SOURCE GeneReport for Unigene cluster for SLC6A3 Gene:

Hs.406

mRNA Expression by UniProt/SwissProt for SLC6A3 Gene:

Q01959-SC6A3_HUMAN
Tissue specificity: Highly expressed in substantia nigra.

Evidence on tissue expression from TISSUES for SLC6A3 Gene

  • Lung(5)
  • Nervous system(4.7)
  • Blood(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • rectum
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC6A3: view

Orthologs for SLC6A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A3 33 32
  • 95.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a3 32
  • 87.95 (n)
dog
(Canis familiaris)
Mammalia SLC6A3 33 32
  • 87.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a3 17 33 32
  • 87.56 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A3 33
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A3 33
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A3 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 33
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 40 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a3 32
  • 73.06 (n)
zebrafish
(Danio rerio)
Actinopterygii slc6a3 32 32
  • 77.33 (n)
SLC6A3 33
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SerT 34
  • 52 (a)
DAT 33 34
  • 49 (a)
ManyToMany
ine 34
  • 41 (a)
CG10804 34
  • 37 (a)
CG1698 34
  • 36 (a)
CG4476 34
  • 35 (a)
CG3252 34
  • 35 (a)
CG7075 34
  • 34 (a)
BG:DS03431.1 34
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea mod-5 34
  • 45 (a)
dat-1 33
  • 44 (a)
ManyToMany
snf-4 34
  • 33 (a)
snf-2 34
  • 32 (a)
snf-9 34
  • 31 (a)
snf-12 34
  • 30 (a)
snf-8 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
ManyToMany
Species where no ortholog for SLC6A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC6A3 Gene

ENSEMBL:
Gene Tree for SLC6A3 (if available)
TreeFam:
Gene Tree for SLC6A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC6A3: view image

Paralogs for SLC6A3 Gene

(20) SIMAP similar genes for SLC6A3 Gene using alignment to 4 proteins:

  • SC6A3_HUMAN
  • H0YBA7_HUMAN
  • H0YBU0_HUMAN
  • Q9Y610_HUMAN
genes like me logo Genes that share paralogs with SLC6A3: view

Variants for SLC6A3 Gene

Sequence variations from dbSNP and Humsavar for SLC6A3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs111362222 likely-benign, Infantile Parkinsonism-dystonia 1,414,809(-) C/T coding_sequence_variant, synonymous_variant
rs115160598 benign, Infantile Parkinsonism-dystonia 1,443,138(-) C/T coding_sequence_variant, synonymous_variant
rs115254960 likely-benign, Infantile Parkinsonism-dystonia 1,409,823(-) G/A coding_sequence_variant, synonymous_variant
rs1264236301 likely-benign, Infantile Parkinsonism-dystonia 1,403,045(-) G/A coding_sequence_variant, synonymous_variant
rs142241083 likely-benign, Infantile Parkinsonism-dystonia 1,414,767(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A3 Gene

Variant ID Type Subtype PubMed ID
dgv9535n54 CNV loss 21841781
dgv9536n54 CNV loss 21841781
dgv9537n54 CNV loss 21841781
dgv9538n54 CNV gain 21841781
dgv9539n54 CNV gain 21841781
esv1433047 CNV insertion 17803354
esv1707642 CNV insertion 17803354
esv21833 CNV loss 19812545
esv23210 CNV loss 19812545
esv2729483 CNV deletion 23290073
esv2729484 CNV deletion 23290073
esv2729486 CNV deletion 23290073
esv2729487 CNV deletion 23290073
esv2729488 CNV deletion 23290073
esv2729489 CNV deletion 23290073
esv3324151 CNV duplication 20981092
esv3373561 CNV duplication 20981092
esv3376997 CNV duplication 20981092
esv3418177 CNV duplication 20981092
esv3441888 CNV duplication 20981092
esv3565357 CNV deletion 23714750
esv3603807 CNV loss 21293372
nsv1133013 OTHER inversion 24896259
nsv1147234 OTHER inversion 26484159
nsv328158 CNV insertion 16902084
nsv461908 CNV loss 19166990
nsv461910 CNV loss 19166990
nsv4680 CNV insertion 18451855
nsv509045 CNV insertion 20534489
nsv596629 CNV gain 21841781
nsv596853 CNV gain 21841781
nsv596863 CNV loss 21841781
nsv596865 CNV gain+loss 21841781
nsv596866 CNV gain 21841781
nsv596867 CNV loss 21841781
nsv830187 CNV loss 17160897
nsv950628 CNV deletion 24416366

Variation tolerance for SLC6A3 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A3 Gene

Human Gene Mutation Database (HGMD)
SLC6A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A3 Gene

Disorders for SLC6A3 Gene

MalaCards: The human disease database

(67) MalaCards diseases for SLC6A3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinsonism-dystonia, infantile, 1
  • pkdys1
tobacco addiction
  • tobacco addiction, susceptibility to
cocaine abuse
  • cocaine-related disorders
akinetic mutism
  • coma vigilans
cocaine dependence
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC6A3_HUMAN
  • Parkinsonism-dystonia infantile (PKDYS) [MIM:613135]: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. {ECO:0000269 PubMed:19478460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC6A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC6A3: view

No data available for Genatlas for SLC6A3 Gene

Publications for SLC6A3 Gene

  1. Dopamine transporter gene associated with diminished subjective response to amphetamine. (PMID: 15602501) Lott DC … de Wit H (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2005) 3 23 26 43 56
  2. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. (PMID: 1406597) Giros B … Caron MG (Molecular pharmacology 1992) 2 3 4 23 56
  3. Response to methylphenidate is not influenced by DAT1 polymorphisms in a sample of Brazilian adult patients with ADHD. (PMID: 20049490) Contini V … Bau CH (Journal of neural transmission (Vienna, Austria : 1996) 2010) 3 23 43 56
  4. Polymorphisms in dopamine transporter (SLC6A3) are associated with stimulant effects of D-amphetamine: an exploratory pharmacogenetic study using healthy volunteers. (PMID: 20091113) Hamidovic A … de Wit H (Behavior genetics 2010) 3 23 26 56
  5. Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans. (PMID: 19844206) Dong C … Licinio J (Molecular psychiatry 2009) 3 23 43 56

Products for SLC6A3 Gene

Sources for SLC6A3 Gene