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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
  • Dopamine Transporter 1 2 3
  • DA Transporter 3 4
  • DAT1 3 4
  • DAT 3 4
  • Sodium-Dependent Dopamine Transporter 3
  • Dopamine Transporter 2
  • 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 and Nicotine Dependence, Protection Against. Among its related pathways are Circadian entrainment and Dopaminergic Neurogenesis. GO annotations related to this gene include receptor binding and protein N-terminus binding. An important paralog of this gene is SLC6A2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SLC6A3 Gene

Genomics for SLC6A3 Gene

Regulatory Elements for SLC6A3 Gene

Enhancers for SLC6A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H001484 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -42.5 -42454 7.7 HDGF PKNOX1 TBL1XR1 RB1 SIN3A BATF ZNF143 ZNF207 FOS ATF7 LPCAT1 SLC6A3 SLC12A7 GC05M001507
GH05H001312 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +130.5 130478 5.6 PKNOX1 FOXA2 SIN3A YY1 ETS1 GLIS2 ZNF143 ZNF207 ATF7 KLF7 BRD9 SLC6A3 LOC100132773 EXOC3 SLC6A18 TERT GC05M001307 GC05P001335
GH05H001180 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +261.5 261498 6.5 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B YBX1 YY1 ZNF766 SP5 CTD-3080P12.3 SLC6A19 SLC6A18 SLC6A3 BRD9 TRIP13
GH05H001476 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -34.1 -34133 5.6 HDGF RB1 ZBTB7B RAD21 ZNF143 RUNX3 CREM IKZF2 EGR2 CEBPB SLC6A3 LPCAT1 BRD9P2 GC05M001507
GH05H001492 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -50.8 -50781 8.2 HDGF PKNOX1 TBL1XR1 RB1 SIN3A RAD21 ZNF143 ZNF207 ATF7 ETV6 LPCAT1 SLC6A3 ZDHHC11B LOC728613 GC05M001507
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC6A3 Gene

Genomic Locations for SLC6A3 Gene
52,641 bases
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:
    Recommended name:
    Sodium-dependent dopamine transporter
    Protein Accession:
    Secondary Accessions:
    • A2RUN4
    • Q14996

    Protein attributes for SLC6A3 Gene

    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).
    • 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 isoforms=181, 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

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily.
  • 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

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

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 receptor binding IEA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005329 dopamine transmembrane transporter activity IDA 15505207
GO:0005330 dopamine:sodium symporter activity IEA,IBA --
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , 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

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 3
mitochondrion 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 1
endosome 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 --
GO:0005887 integral component of plasma membrane IBA --
GO:0009986 cell surface IEA,IDA 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:0006810 transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mazindol Approved Pharma Inhibition, Inhibitor, inhibitor, Target 3
Amphetamine Approved, Illicit Pharma antagonist, Target, negative modulator 124
Bupropion Approved Pharma inhibitor, Target 337
Cocaine Approved, Illicit Pharma inhibitor, Target 524
Dexmethylphenidate Approved Pharma Target, inhibitor 0

(38) Additional Compounds for SLC6A3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion

(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

Drug Products

Transcripts for SLC6A3 Gene

mRNA/cDNA for SLC6A3 Gene

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

Unigene Clusters for SLC6A3 Gene

Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for

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, PaxDb, and MOPED for SLC6A3 Gene

Protein tissue co-expression partners for SLC6A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC6A3 Gene:


SOURCE GeneReport for Unigene cluster for SLC6A3 Gene:


mRNA Expression by UniProt/SwissProt for SLC6A3 Gene:

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
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • head
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • abdominal wall
  • intestine
  • large intestine
  • stomach
  • rectum
  • foot
  • hand
  • lower limb
  • upper limb
  • 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
(Pan troglodytes)
Mammalia SLC6A3 33 34
  • 95.28 (n)
(Rattus norvegicus)
Mammalia Slc6a3 33
  • 87.95 (n)
(Canis familiaris)
Mammalia SLC6A3 33 34
  • 87.9 (n)
(Mus musculus)
Mammalia Slc6a3 33 16 34
  • 87.56 (n)
(Monodelphis domestica)
Mammalia SLC6A3 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia SLC6A3 34
  • 75 (a)
(Bos Taurus)
Mammalia SLC6A3 34
  • 66 (a)
(Gallus gallus)
Aves -- 34
  • 39 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a3 33
  • 73.06 (n)
(Danio rerio)
Actinopterygii slc6a3 33
  • 77.33 (n)
SLC6A3 34
  • 74 (a)
fruit fly
(Drosophila melanogaster)
Insecta DAT 35 34
  • 52 (a)
SerT 35
  • 52 (a)
ine 35
  • 41 (a)
CG10804 35
  • 37 (a)
CG1698 35
  • 36 (a)
CG3252 35
  • 35 (a)
CG4476 35
  • 35 (a)
CG7075 35
  • 34 (a)
BG:DS03431.1 35
  • 33 (a)
(Caenorhabditis elegans)
Secernentea mod-5 35
  • 45 (a)
dat-1 34
  • 44 (a)
snf-4 35
  • 33 (a)
snf-2 35
  • 32 (a)
snf-9 35
  • 31 (a)
snf-12 35
  • 30 (a)
snf-8 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
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

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

Paralogs for SLC6A3 Gene

Variants for SLC6A3 Gene

Sequence variations from dbSNP and Humsavar for SLC6A3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs267607068 Pathogenic, Parkinsonism-dystonia infantile (PKDYS) [MIM:613135] 1,414,744(-) CTTCC(A/T)GGGGT reference, missense
rs267607069 Pathogenic, Parkinsonism-dystonia infantile (PKDYS) [MIM:613135] 1,411,328(-) CTACC(C/T)GGAAG reference, missense
rs760871529 A breast cancer sample 1,441,416(+) CTGGC(C/T)GAGGG reference, missense
VAR_036159 A breast cancer sample
rs431905504 Pathogenic 1,411,242(-) GCGCC(A/G)TGAGT splice-donor-variant

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

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

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)

Relevant External Links for SLC6A3 Gene

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

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

Disorders for SLC6A3 Gene

MalaCards: The human disease database

(55) MalaCards diseases for SLC6A3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinsonism-dystonia, infantile
  • infantile parkinsonism-dystonia
nicotine dependence, protection against
  • nicotine dependence
cocaine abuse
  • cocaine-related disorders
essential tremor
  • benign essential tremor
akinetic mutism
  • coma vigilans
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for SLC6A3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 22 25 45 60
  2. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. (PMID: 1406597) Giros B … Caron MG (Molecular pharmacology 1992) 2 3 4 22 60
  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 22 45 60
  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 22 25 60
  5. Association of dopamine transporter and monoamine oxidase molecular polymorphisms with sudden infant death syndrome and stillbirth: new insights into the serotonin hypothesis. (PMID: 18810510) Filonzi L … Marzano FN (Neurogenetics 2009) 3 22 45 60

Products for SLC6A3 Gene

Sources for SLC6A3 Gene

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