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

SLC6A18 Gene

protein-coding   GIFtS: 51
GCID: GC05P001281

solute carrier family 6, member 18

(Previous names: solute carrier family 6 (neurotransmitter transporter),...)
 Explore 5 diseases affiliated with
SLC6A18 via our new
 Human Malady Compendium 
Biological research products
for SLC6A18
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 6, Member 181 2     XTRP23 5
Xtrp21 2     FLJ312361
Solute Carrier Family 6 (Neurotransmitter Transporter), Member 181 2     Sodium Channel-Like Protein2
Sodium- And Chloride-Dependent Transporter XTRP22 3     Sodium-Dependent Neutral Amino Acid Transporter B(0)AT32
System B(0) Neutral Amino Acid Transporter AT32 3     Solute Carrier Family 6 Member 183

External Ids:    HGNC: 264411   Entrez Gene: 3489322   Ensembl: ENSG000001643637   OMIM: 6103005   UniProtKB: Q96N873   

Export aliases for SLC6A18 gene to outside databases

Previous GC identifer: GC05P001279


(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 SLC6A18:
The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids,
and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for
solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 (PubMed 16125675)).(supplied
by OMIM, Apr 2010)

UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
Function: Functions as a sodium and chloride-dependent neutral amino acid transporter (By similarity)

Gene Wiki entry for SLC6A18


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A18 gene promoter:
         Egr-3   p53   RelA   NF-kappaB   HNF-4alpha1   HEN1   Max   FOXO4   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC6A18 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A18


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

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

SLC6A18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A18 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P001281:  view genomic region     (about GC identifiers)

Start:
1,225,470 bp from pter      End:
1,246,304 bp from pter
Size:
20,835 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87 (See protein sequence)
Recommended Name: Sodium-dependent neutral amino acid transporter B(0)AT3  
Size: 628 amino acids; 70897 Da
Subunit: Associates with TMEM27 (By similarity). TMEM27 association is required for functional expression in kidney (By
similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Probable)

Explore the universe of human proteins at neXtProt for SLC6A18: NX_Q96N87

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96N87

  • SLC6A18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_872438.2  
    ENSEMBL proteins: 
     ENSP00000323549   ENSP00000296821  
    Reactome Protein details: Q96N87
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    Uscn Proteins for SLC6A18

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--


    SLC6A18 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC6A18 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000175 Na/ntran_symport
     IPR002438 Na/ntran_symport_orphan

    Graphical View of Domain Structure for InterPro Entry Q96N87

    ProtoNet protein and cluster: Q96N87

    1 Blocks protein family: IPB002438 Orphan neurotransmitter transporter signature

    UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
    Function: Functions as a sodium and chloride-dependent neutral amino acid transporter (By similarity)

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005328neurotransmitter:sodium symporter activity IEA--


    SLC6A18 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SLC6A18: Slc6a18tm1Lex Slc6a18tm1Mca
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc6a18):
     cardiovascular system  homeostasis/metabolism  renal/urinary system 

    SLC6A18 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amino acid and oligopeptide SLC transporters
    Amino acid and oligopeptide SLC transporters1.00
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52
    Amino acid transport across the plasma membrane0.63
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport1.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    3Amine compound SLC transporters
    Amine compound SLC transporters1.00
    Na+/Cl- dependent neurotransmitter transporters0.63

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for SLC6A18 (see all 8)
        Na+/Cl- dependent neurotransmitter transporters
    Amino acid transport across the plasma membrane
    Amine compound SLC transporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules



    SLC6A18 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC6A18

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006865amino acid transport TAS--
    GO:0006970response to osmotic stress ----
    GO:0055085transmembrane transport TAS--


    SLC6A18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC6A18

    1 HMDB Compound for SLC6A18    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--
    Search CenterWatch for drugs/clinical trials and news about SLC6A18 / S6A18 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC6A18 gene: 
    NM_182632.2  

    Unigene Cluster for SLC6A18:

    Solute carrier family 6, member 18
    Hs.213284  [show with all ESTs]
    Unigene Representative Sequence: BC056757
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324642(uc003jby.2) ENST00000513607 ENST00000296821

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    Additional cDNA sequence: 

    AK055798.1 AK298257.1 BC056757.1 

    1 DOTS entry:

    DT.75163559 

    11 AceView cDNA sequences:

    BC056757 AW300281 AW302227 BE465178 AI633966 AK055798 NM_182632 BF590014 
    AI889085 AW293344 AA214452 

    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

    SLC6A18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCGGGTCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SLC6A18 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyProximal TubuleProximal Tubule CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC6A18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A18

    SOURCE GeneReport for Unigene cluster: Hs.213284

    UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
    Tissue specificity: Abundantly expressed in kidney, but not in intestine

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    In Situ
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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 SLC6A18 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008580921 sodium-dependent neutral amino acid transporter B( more 65.92(n)
    64.26(a)
      100858092  XM_003640787.1  XP_003640835.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc6a181 solute carrier family 6, member 18 66.49(n)
    61.53(a)
      100141332  NM_001114897.1  NP_001108369.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG108041 CG10804 53.35(n)
    47.33(a)
      31317  NM_001144678.1  NP_001138150.1 
    worm
    (Caenorhabditis elegans)
    Secernentea snf-66
    snf-126
    Sodium-dependent acetylcholine transporter
    Sodium:Neurotransmitter symporter Family family me...
    22(a)
    15(a)
    possible ortholog
    possible ortholog
    III(1520216-1532760)
    X(9029423-9033904)


    ENSEMBL Gene Tree for SLC6A18 (if available)
    TreeFam Gene Tree for SLC6A18 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A18 gene
    SLC6A152  SLC6A202  SLC6A172  SLC6A162  SLC6A192  
    18/21 SIMAP similar genes for SLC6A18 using alignment to 3 protein entries:     S6A18_HUMAN (see all proteins) (see all similar genes):
    SLC6A15    SLC6A19    5HTT    SLC6A20    DKFZp761I0921    SLC6A4
    DAT1    SLC6A17    SLC6A1    SLC6A3    SLC6A16    SLC6A7
    SLC6A9    SLC6A11    SLC6A14    SLC6A5    SLC6A13    SLC6A12

    SLC6A18 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
    Polymorphism: Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood
    pressure and is not associated with hypertension in the Japanese population


    10/581 NCBI SNPs in SLC6A18 are shown (see all 581    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2022383871,2
    C--1209534(+) AGGCCC/TTTTTT 1 -- int10--------
    rs2018068211,2
    --1225768(+) ACCTGC/TGTCCT 1 -- int10--------
    rs77043631,2
    C,F,A,H,--1225801(+) AGGCCG/ATCTCC 1 -- int113Minor allele frequency- A:0.36MN NA WA CSA EA 772
    rs1927927251,2
    --1225968(+) AGCACA/GGAGGA 1 -- int10--------
    rs1426831171,2
    --1225975(+) AGGATC/GCAGTC 1 -- int10--------
    rs1156751901,2
    F,--1225985(+) CCCCTC/TGGGGT 1 -- int11Minor allele frequency- T:0.02NA 120
    rs77047281,2
    C,F,A,H,--1226051(+) GGGCCG/ACCCTG 1 -- int121Minor allele frequency- A:0.38NS EA NA WA CSA 2343
    rs766198841,2
    --1226071(+) CACACC/TCTACA 1 -- int10--------
    rs125141711,2
    C,F,H,--1226105(+) AATGTC/TGTCAG 1 -- int16Minor allele frequency- T:0.25WA NA EA 364
    rs77254641,2
    C,A,H,--1226117(+) TCTTTT/AAAGAA 1 -- int112Minor allele frequency- A:0.18WA NA CSA EA 373

    HapMap Linkage Disequilibrium report for SLC6A18 (1225470 - 1246304 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC6A18: --
    Human Gene Mutation Database (HGMD): SLC6A18

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SLC6A18 for disorders           About GeneDecksing

    OMIM gene information: 610300    OMIM disorders: --

    UniProtKB/Swiss-Prot: S6A18_HUMAN, Q96N87
  • Note=Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with
  • iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20

    5 diseases for SLC6A18:    About MalaCards
    hyperglycinuria    iminoglycinuria    pneumonia    hypertension
    myocardial infarcation

    Human Genome Epidemiology (HuGE) Navigator: SLC6A18 (4 documents)

    Export disorders for SLC6A18 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 SLC6A18 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with SLC6A18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Orphan transporter SLC6A18 is renal neutral amino aci d transporter B0AT3. (PubMed id 19478081)1, 3 Singer D....Verrey F. (2009)
    2. A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. (PubMed id 16340170)1, 2 Eslami B....Koizumi A. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (PubMed id 15286787)1, 2 Kleta R....Koizumi A. (2004)
    6. Association study: SLC6A18 gene and myocardial infarc tion. (PubMed id 21420947)1 Matsumoto K....Aoi N. (2011)
    7. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1 Guey L.T....Malats N. (2010)
    8. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (PubMed id 19033659)2 Broer S....Rasko J.E. (2008)
    9. Amino acid transport across mammalian intestinal and renal epithelia. (PubMed id 18195088)1 BrAPer S. (2008)
    10. Analysis of VNTRs in the Solute Carrier Family 6, Member 18 (SLC6A18) and Lack of Association with Hypertension. (PubMed id 18554081)1 Yoon Y.H....Leem S.H. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 348932 HGNC: 26441 AceView: SLC6A18 Ensembl:ENSG00000164363 euGenes: HUgn348932
    ECgene: SLC6A18 H-InvDB: SLC6A18

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SLC6A18 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for SLC6A18 gene:
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