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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC6A3 Gene

protein-coding   GIFtS: 69
GCID: GC05M001392

Solute Carrier Family 6 (Neurotransmitter Transporter),...

(Previous names: solute carrier family 6 (neurotransmitter transporter, dopamine),...)
(Previous symbol: DAT1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 31 2     DAT2 3
DAT11 2 3 5     DA Transporter2 3
Dopamine Transporter 11 2     Dopamine Transporter1
Solute Carrier Family 6 (Neurotransmitter Transporter, Dopamine), Member 31 2     PKDYS2
Solute Carrier Family 6 Member 32 3     Sodium-Dependent Dopamine Transporter2

External Ids:    HGNC: 110491   Entrez Gene: 65312   Ensembl: ENSG000001423197   OMIM: 1264555   UniProtKB: Q019593   

Export aliases for SLC6A3 gene to outside databases

Previous GC identifers: GC05P001491 GC05M001531 GC05M001425 GC05M001445 GC05M001423 GC05M001374


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (neurotransmitter transporter), member 3) is a protein-coding gene. Diseases associated with SLC6A3 include cocaine abuse, and nicotine dependence, and among its related super-pathways are Transmembrane transport of small molecules and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include protein N-terminus binding and receptor binding. An important paralog of this gene is SLC6A6.

UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into
presynaptic terminals

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, adrenalin and noradrenalin from the synaptic
cleft, terminating the neurotransmitter signal. Dopamine transporters can also mediate an outward efflux and
it has been suggested that inward and outward transport are independently regulated. Structural motifs
include 12-TM domains, extracellular loops, cytoplasmic C- and N-termini and putative phosphorylation sites.
There is evidence to support the role of dopamine transporters in attention deficit disorder, bipolar
disorder, clinical depression and alcoholism.

Gene Wiki entry for SLC6A3 (Dopamine transporter) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A3 gene promoter:
         Pax-5   Nkx2-2   NRSF form 1   NRSF form 2   E47   YY1   POU2F1   POU2F1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.3   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.3

SLC6A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M001392:  view genomic region     (about GC identifiers)

Start:
1,392,905 bp from pter      End:
1,445,545 bp from pter
Size:
52,641 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959 (See protein sequence)
Recommended Name: Sodium-dependent dopamine transporter  
Size: 620 amino acids; 68495 Da
Subunit: Homooligomer; disulfide-linked. Interacts with PRKCABP and TGFB1I1. Interacts (via N-terminus) with
SYNGR3 (via N-terminus) (By similarity). Interacts with SLC18A2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: This protein is the target of psychomotor stimulants such as amphetamines or cocaine
Secondary accessions: A2RUN4 Q14996

Explore the universe of human proteins at neXtProt for SLC6A3: NX_Q01959

Explore proteomics data for SLC6A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01959

  • SLC6A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC6A3 Protein Expression
    REFSEQ proteins: NP_001035.1  
    ENSEMBL proteins: 
     ENSP00000270349   ENSP00000430324   ENSP00000429101   ENSP00000399806  
    Reactome Protein details: Q01959
    Human Recombinant Protein Products for SLC6A3: 
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    OriGene Custom Protein Services for SLC6A3
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    Novus Biologicals SLC6A3 Proteins
    Novus Biologicals SLC6A3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10823899
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016021integral to membrane TAS8628395
    GO:0030424axon IDA12958153

    SLC6A3 for ontologies           About GeneDecksing



    SLC6A3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: DAT 
    Monoamine transporter subfamily

    2 InterPro protein domains:
     IPR000175 Na/ntran_symport
     IPR002436 Na/ntran_symport_dopamine

    Graphical View of Domain Structure for InterPro Entry Q01959

    ProtoNet protein and cluster: Q01959

    1 Blocks protein domain: IPB002436 Dopamine neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily


    SLC6A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SC6A3_HUMAN, Q01959
    Function: Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into
    presynaptic terminals

         Genatlas biochemistry entry for SLC6A3:
    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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005102receptor binding IEA--
    GO:0005328neurotransmitter:sodium symporter activity ----
    GO:0005329dopamine transmembrane transporter activity TAS10823899
    GO:0005330dopamine:sodium symporter activity IEA--
         
    SLC6A3 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Slc6a3):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  mortality/aging  muscle  nervous system  normal 
     reproductive system  skeleton  taste/olfaction 

    SLC6A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC6A3: Slc6a3tm1Mca Slc6a3tm2Mca

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC6A3 
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    SwitchGear 3'UTR luciferase reporter plasmidSLC6A3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC6A3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC6A3 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    4Amphetamine addiction
    Amphetamine addiction0.44
    Cocaine addiction0.44
    5Enzymatic degradation of dopamine by COMT
    Dopamine clearance from the synaptic cleft0.67
    Neurotransmitter Clearance In The Synaptic Cleft0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SLC6A3
        Parkinson's Disease Pathway

    3 BioSystems Pathways for SLC6A3
        Parkinsons Disease Pathway
    Monoamine Transport
    Alpha-synuclein signaling

    5/9        Reactome Pathways for SLC6A3 (see all 9)
        Transmission across Chemical Synapses
    Na+/Cl- dependent neurotransmitter transporters
    Dopamine clearance from the synaptic cleft
    Amine compound SLC transporters
    Neuronal System


    5         Kegg Pathways  (Kegg details for SLC6A3):
        Dopaminergic synapse
    Parkinson's disease
    Cocaine addiction
    Amphetamine addiction
    Alcoholism


    SLC6A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC6A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/16 Interacting proteins for SLC6A3 (Q019592, 3 ENSP000002703494) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPPPO948112, 3, ENSP000003537854MINT-8055798 I2D: score=1 STRING: ENSP00000353785
    DRD2P144162, 3, ENSP000003548594MINT-4789680 MINT-4789661 MINT-4789619 MINT-4789636 I2D: score=3 STRING: ENSP00000354859
    PICK1Q9NRD52, 3, ENSP000003494654MINT-73279 MINT-73284 MINT-73280 MINT-73281 I2D: score=5 STRING: ENSP00000349465
    EPN1Q9Y6I33, ENSP000004062094I2D: score=2 STRING: ENSP00000406209
    GNB2L1P632443, ENSP000003660134I2D: score=2 STRING: ENSP00000366013
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8628395
    GO:0006836neurotransmitter transport ----
    GO:0007268synaptic transmission TAS--
    GO:0007568aging IEA--
    GO:0007595lactation IEA--

    SLC6A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC6A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SLC6A3

    Compounds for SLC6A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GBR 12909 dihydrochlorideSelective DA uptake inhibitor. Also sigma ligand[67469-78-7]
    Threo-methylphenidate hydrochlorideInhibitor of dopamine and noradrenalin transporters. Psychomotor stimulant[298-59-9]
    TetrabenazinePotent inhibitor of vesicular monoamine transport[58-46-8]
    GBR 13069 dihydrochloridePotent dopamine uptake inhibitor[77862-93-2]
    Bupropion hydrochlorideNon-selective inhibitor of dopamine and noradrenalin transporters[31677-93-7]

    3 HMDB Compounds for SLC6A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bupropion(+-)-Bupropion (see all 7)34841-39-9--
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--
    SodiumSodium (see all 2)7440-23-5--

    10/36 DrugBank Compounds for SLC6A3 (see all 36)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dexmethylphenidate-- 40431-64-9targetinhibitor18698001 10037500 9181638 10025684 18480678 10414438 15303308 10199939 11752352 9537821 10403500 11862378
    Methylphenidated-methylphenidate HCl (see all 10)113-45-1targetinhibitor18698001 10037500 10025684 10414438 15303308 10199939 11752352 9537821 10403500
    BupropionAmfebutamone (see all 2)34841-39-9targetinhibitor14550679 12185406 12589396 15787205 12183670 11752352 9537821 15361919
    Mazindol-- 22232-71-9targetinhibitor10082805 12213055 12213053 11248372 11719704 10980236 9537821 10823899
    Methamphetamine(+ )-methylamphetamine (see all 46)537-46-2targetnegative modulator15764732 17209801 19897077 15602501 15950014 15795321 15661631 15728379
    Amphetamine(+/-)-Benzedrine (see all 19)300-62-9targetnegative modulator15764732 15602501 15950014 15795321 15661631 15728379
    BenzatropineBenzatropina [INN-Spanish] (see all 7)86-13-5targetinhibitor16460947 11395483 10230713 11349389 11728190 11277529
    SibutramineSibutramina [Spanish] (see all 2)106650-56-0targetinhibitor10929704 19475780 11152984 15382615 10974319 15111248
    Cocaine(')-cocaine (see all 6)50-36-2targetinhibitor12672245 9537821 15351386 10420171 8797532
    DuloxetineDuloxetine HCl (see all 2)136434-34-9targetinhibitor17139284 17016423 19480470 18973814 16199241

    5 IUPHAR Ligands for SLC6A3 (DAT)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [3H]GBR12935
    NoneNone8.58302271
    mazindol
    InhibitorInhibition8--
    [3H]WIN35428
    NoneNone88302271
    WIN35428
    InhibitorInhibition7.9--
    GBR12935
    InhibitorInhibition7.6--

    10/117 Novoseek inferred chemical compound relationships for SLC6A3 gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 96.5 6215 7830281 (8), 17126039 (8), 9766762 (8), 8667208 (8) (see all 99)
    (123i)fp-cit 92.6 40 9396871 (3), 11315592 (3), 9744331 (2), 10319746 (2) (see all 22)
    (123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane 90.6 19 8657833 (1), 8110440 (1), 11440745 (1), 15872345 (1) (see all 16)
    spec-t 87.4 370 16447045 (4), 8965183 (3), 18067184 (3), 9293807 (3) (see all 99)
    cocaine 87 803 10403500 (7), 11809869 (7), 10419565 (7), 18565692 (6) (see all 99)
    mazindol 86.6 29 9262359 (3), 16181646 (2), 9676890 (2), 14519759 (1) (see all 19)
    methylphenidate 86.5 340 9766762 (8), 10403500 (7), 20049490 (7), 15572278 (6) (see all 99)
    2beta-carbomethoxy-3beta-(4-iodophenyl)tropane 86.3 17 7607268 (1), 8748670 (1), 10348466 (1), 7607266 (1) (see all 10)
    tropane 86.2 30 16385509 (3), 11714608 (2), 9880583 (2), 10881032 (1) (see all 20)
    benztropine 83.6 58 20230764 (4), 9880583 (3), 16460947 (3), 16923164 (3) (see all 20)

    Search CenterWatch for drugs/clinical trials and news about SLC6A3 / SC6A3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC6A3 gene: 
    NM_001044.4  

    Unigene Cluster for SLC6A3:

    Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
    Hs.406  [show with all ESTs]
    Unigene Representative Sequence: NM_001044
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270349(uc003jck.3) ENST00000512002 ENST00000511750 ENST00000513308
    ENST00000453492

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    Additional mRNA sequence: 

    AK310589.1 BC132977.1 BC133003.1 EF174603.1 L24178.1 M95167.1 M96670.1 S44626.1 
    S46955.1 

    1 DOTS entry:

    DT.308308 

    18 AceView cDNA sequences:

    M96670 AI760659 AI375850 NM_001044 AI769875 S46955 S44626 L24178 
    M95167 AI091004 AA912294 AI949407 BF509749 AI768774 AI863737 AU127295 
    AW887557 AI586989 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC6A3 expression in normal human tissues (normalized intensities)      SLC6A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGTCCCCT
    SLC6A3 Expression
    About this image


    SLC6A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Embryonic Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Tube (Nervous System)
             Mesencephalon
     
     Kidney (Urinary System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See SLC6A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A3

    SOURCE GeneReport for Unigene cluster: Hs.406
        SABiosciences Expression via Pathway-Focused PCR Array including SLC6A3: 
              Parkinson's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A3 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc6a31 , 5 solute carrier family 6 (neurotransmitter transporter, more1, 5 87.56(n)1
    93.7(a)1
      13 (40.10 cM)5
    131621  NM_010020.31  NP_034150.11 
     735367475 
    zebrafish
    (Danio rerio)
    Actinopterygii slc6a32 solute carrier family 6 (neurotransmitter transporter, more 79.21(n)   80787  AF318177.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DAT3 dopamine transporter 52(a)
    (best of 9)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea mod-53   -- 45(a)
    (best of 6)
      I(3035239-3047795)   --


    ENSEMBL Gene Tree for SLC6A3 (if available)
    TreeFam Gene Tree for SLC6A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A3 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A82  SLC6A52  SLC6A142  SLC6A12  SLC6A42  
    SLC6A132  SLC6A72  SLC6A22  SLC6A92  
    18/20 SIMAP similar genes for SLC6A3 using alignment to 4 protein entries:     SC6A3_HUMAN (see all proteins) (see all similar genes):
    DAT1    SLC6A4    SLC6A12    SLC6A6    SLC6A13    SLC6A2
    SLC6A7    SLC6A1    SLC6A9    SLC6A15    SLC6A11    SLC6A8
    5HTT    SLC6A5    SLC6A14    SLC6A20    SLC6A18    SLC6A19

    SLC6A3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC6A3
    PGOHUM00000262333


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1860 SNPs in SLC6A3 are shown (see all 1860)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637724
    Parkinsonism-dystonia infantile (PKDYS)4--see VAR_0637722 P L mis40--------
    VAR_0361594
    A breast cancer sample4--see VAR_0361592 R S mis40--------
    VAR_0361584
    A breast cancer sample4--see VAR_0361582 G S mis40--------
    VAR_0637714
    Parkinsonism-dystonia infantile (PKDYS)4--see VAR_0637712 L Q mis40--------
    rs1133450581,2
    C--1373266(+) CAGACG/ATGGGT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1507715241,2
    --1373270(+) CGTGGA/GTGAGG 1 -- ds50010--------
    rs1813222641,2
    --1373322(+) GGAAAC/GAGATC 1 -- ds50010--------
    rs1850638351,2
    C--1373388(+) ACCTGC/TGTGGG 1 -- ds50010--------
    rs1879639131,2
    --1373452(+) GAGGGC/GGACAG 1 -- ds50010--------
    rs1808631181,2
    C--1373453(+) AGGGCA/GACAGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC6A3 (1392905 - 1445545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for SLC6A3 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2729486CNV Deletion23290073
    esv2729489CNV Deletion23290073
    esv2729487CNV Deletion23290073
    esv2729488CNV Deletion23290073
    esv2729483CNV Deletion23290073
    esv2729484CNV Deletion23290073
    nsv328158CNV Insertion16902084
    esv1433047CNV Insertion17803354
    nsv509045CNV Insertion20534489
    esv1707642CNV Insertion17803354


    Human Gene Mutation Database (HGMD): SLC6A3

    Locus Specific Mutation Databases (LSDB): SLC6A3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC6A3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126455   
    OMIM disorders: 143465  188890  125480  613135  
    UniProtKB/Swiss-Prot: SC6A3_HUMAN, Q01959
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/107 diseases for SLC6A3 (see all 107):    About MalaCards
    cocaine abuse    nicotine dependence    extrapontine myelinolysis    infantile parkinsonism-dystonia
    amphetamine abuse    nicotine dependence, protection against    attention deficit hyperactivity disorder    essential tremor
    tourette disorder    akinetic mutism    rem sleep behavior disorder    leptin receptor deficiency
    separation anxiety disorder    ataxia with oculomotor apraxia type 1    tremor    impulse control disorder
    alcoholic psychosis    parkinsonian disorders    conduct disorder    mutism

    13 diseases from the University of Copenhagen DISEASES database for SLC6A3:
    Parkinson's disease     Attention deficit hyperactivity disorder     Toxic encephalopathy     Essential tremor
    Schizophrenia     Substance abuse     Lewy body dementia     Multiple system atrophy
    Substance dependence     Progressive supranuclear palsy     Gilles de la Tourette syndrome     Conduct disorder
    Pathological gambling

    SLC6A3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/87 Novoseek inferred disease relationships for SLC6A3 gene (see all 87)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 87.5 308 9703165 (4), 17886297 (4), 11403185 (3), 9048712 (3) (see all 99)
    attention-deficit hyperactivity disorder 87.4 147 10609822 (3), 16526026 (2), 18174826 (2), 19676101 (2) (see all 97)
    parkinsonism 81.8 100 7695230 (4), 11315592 (3), 14531041 (2), 17017535 (2) (see all 66)
    cocaine abuse 71.4 28 8674469 (2), 10881032 (1), 11408518 (1), 17897630 (1) (see all 15)
    cocaine addiction 71 14 2111866 (1), 19226282 (1), 9466707 (1), 10375632 (1) (see all 11)
    essential tremor 69.7 22 17260170 (2), 11487195 (2), 18317299 (2), 14531042 (2) (see all 12)
    multiple system atrophy 66.3 18 14598060 (2), 11748733 (2), 14673877 (1), 19089314 (1) (see all 12)
    parkinsonism drug-induced 61.7 4 19252795 (1), 19131852 (1), 17969308 (1)
    movement disorders 61.1 14 12971118 (2), 17398272 (2), 19478460 (2), 12411832 (1) (see all 10)
    tourette syndrome 60.2 27 7653693 (3), 16969259 (3), 8825631 (2), 8725745 (2) (see all 14)

    Genetic Association Database (GAD): SLC6A3
    Human Genome Epidemiology (HuGE) Navigator: SLC6A3 (369 documents)

    Export disorders for SLC6A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC6A3 gene, integrated from 9 sources (see all 1834):
    (articles sorted by number of sources associating them with SLC6A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. (PubMed id 1406597)1, 2, 3, 9 Giros B....Caron M.G. (1992)
    2. Dopamine transporter gene associated with diminished subjective response to amphetamine. (PubMed id 15602501)1, 4, 7, 9 Lott D.C....de Wit H. (2005)
    3. Striatal dopamine transporter availability associated with polymorphisms in the dopamine transporter gene SLC6A3. (PubMed id 19091889)1, 4, 9 van de Giessen E.M....Booij J. (2009)
    4. Increased dopamine transporter availability associated with the 9-repeat allele of the SLC6A3 gene. (PubMed id 15872345)1, 4, 9 van Dyck C.H....Gelernter J. (2005)
    5. A review and analysis of the relationship between neuropsychological measures and DAT1 in ADHD. (PubMed id 18729135)1, 4, 9 Rommelse N.N....Oosterlaan J. (2008)
    6. Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. (PubMed id 8302271)1, 2, 9 Pristupa Z.B.... Niznik H.B. (1994)
    7. The multiple LIM domain-containing adaptor protein Hic-5 synaptically colocalizes and interacts with the dopamine transporter. (PubMed id 12177201)1, 2, 9 Carneiro A.M.D.... Torres G.E. (2002)
    8. Dopamine transporter (DAT) genotype (VNTR) and phenotype in extrapyramidal symptoms induced by antipsychotics. (PubMed id 17150335)1, 4, 9 Lafuente A....Parellada E. (2007)
    9. Dissecting the attention deficit hyperactivity disorder (ADHD) phenotype: sustained attention, response variability and spatial attentional asymmetries in relation to dopamine transporter (DAT1) genotype. (PubMed id 16168728)1, 4, 9 Bellgrove M.A....Robertson I.H. (2005)
    10. Association analysis between polymorphisms in the dop amine D2 receptor (DRD2) and dopamine transporter (DAT1) genes with cocaine dep endence. (PubMed id 20170711)1, 4, 9 Lohoff F.W....Oslin D.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6531 HGNC: 11049 AceView: SLC6A3 Ensembl:ENSG00000142319 euGenes: HUgn6531
    ECgene: SLC6A3 Kegg: 6531 H-InvDB: SLC6A3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC6A3 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/slc6a3/
    Wikipedia http://en.wikipedia.org/wiki/Dopamine_transporter

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC6A3 gene:
    Search GeneIP for patents involving SLC6A3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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