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

DOPEY2 Gene

protein-coding   GIFtS: 45
GCID: GC21P037529

dopey family member 2

(Previous name: chromosome 21 open reading frame 5 )
(Previous symbol: C21orf5)
 Explore 2 diseases affiliated with
DOPEY2 via our new
 Human Malady Compendium 
Biological research products
for DOPEY2
    

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

Aliases
Dopey Family Member 21 2     Chromosome 21 Open Reading Frame 51
C21orf51 2 3     Homolog Of Yeast DOP12
KIAA09331 3 5     Protein Dopey-22
21orf52 5     

External Ids:    HGNC: 12911   Entrez Gene: 99802   Ensembl: ENSG000001421977   OMIM: 6048035   UniProtKB: Q9Y3R53   

Export aliases for DOPEY2 gene to outside databases

Previous GC identifers: GC21P036459 GC21P023014


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

UniProtKB/Swiss-Prot: DOP2_HUMAN, Q9Y3R5
Function: May be involved in protein traffic between late Golgi and early endosomes (By similarity)

Gene Wiki entry for DOPEY2


(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_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOPEY2 gene promoter:
         RP58   AML1a   NCX/Ncx   FOXD1   E47   AREB6   PPAR-gamma1   COMP1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DOPEY2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DOPEY2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOPEY2


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

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.12   HGNC cytogenetic band: 21q22.2

DOPEY2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOPEY2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P037529:  view genomic region     (about GC identifiers)

Start:
37,529,080 bp from pter      End:
37,711,195 bp from pter
Size:
182,116 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: DOP2_HUMAN, Q9Y3R5 (See protein sequence)
Recommended Name: Protein dopey-2  
Size: 2298 amino acids; 258230 Da
Developmental stage: Abundantly expressed in developing central nervous system, with highest levels in cerebellum and
lowest in telencephalon
Secondary accessions: D3DSG5 Q6PJQ7 Q9UEZ3
Alternative splicing: 2 isoforms:  Q9Y3R5-1   Q9Y3R5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DOPEY2: NX_Q9Y3R5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y3R5

  • DOPEY2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005119.2  
    ENSEMBL proteins: 
     ENSP00000270190   ENSP00000382104   ENSP00000393528   ENSP00000389477   ENSP00000411059  
     ENSP00000413506  

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    Uscn Proteins for DOPEY2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ISS16301316


    DOPEY2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DOPEY2


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

    DOPEY2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007249 Dopey_N

    Graphical View of Domain Structure for InterPro Entry Q9Y3R5

    ProtoNet protein and cluster: Q9Y3R5

    UniProtKB/Swiss-Prot: DOP2_HUMAN, Q9Y3R5
    Similarity: Belongs to the dopey family


    (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: DOP2_HUMAN, Q9Y3R5
    Function: May be involved in protein traffic between late Golgi and early endosomes (By similarity)

    miRNA
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    hsa-miR-3910 hsa-miR-3650 hsa-miR-1321 hsa-miR-539 hsa-miR-3065-5p hsa-miR-624 hsa-miR-29b-1* hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidDOPEY2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOPEY2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    DOPEY2 for ontologies           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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOPEY2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DOPEY2 (ENSP000003821044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006895Golgi to endosome transport ISS16301316
    GO:0007029endoplasmic reticulum organization ISS16301316
    GO:0007275multicellular organismal development NAS10950924
    GO:0015031protein transport IEA--


    DOPEY2 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 DOPEY2
    Search CenterWatch for drugs/clinical trials and news about DOPEY2 / DOP2 

    (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 DOPEY2 gene: 
    NM_005128.2  

    Unigene Cluster for DOPEY2:

    Dopey family member 2
    Hs.204575  [show with all ESTs]
    Unigene Representative Sequence: NM_005128
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270190 ENST00000399151(uc002yvh.3 uc002yvg.3 uc011aeb.2)
    ENST00000492760 ENST00000463668 ENST00000414001 ENST00000445834 ENST00000435949
    ENST00000418642

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOPEY2
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate DOPEY2 (see all 15):
    hsa-miR-3910 hsa-miR-3650 hsa-miR-1321 hsa-miR-539 hsa-miR-3065-5p hsa-miR-624 hsa-miR-29b-1* hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidDOPEY2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOPEY2 (see all 4)
    OriGene shRNA RFP: DOPEY2
    OriGene siRNA: DOPEY2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOPEY2
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOPEY2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOPEY2

    Additional cDNA sequence: 

    AB023150.2 AJ001857.1 AJ237839.2 AK025095.1 AK026478.1 BC012791.2 

    6 DOTS entries:

    DT.40285384  DT.100747276  DT.101980259  DT.121139296  DT.40223446  DT.91889911 

    24/75 AceView cDNA sequences (see all 75):

    AI510780 BQ927561 AK025095 BU152648 CR613258 AA931930 AL546074 BX643639 
    BX091550 BE465311 NM_005128 AB023150 AA987490 BC012791 BM762343 AJ237839 
    AW083855 BX483490 BP364624 AW085802 BE551040 AW575790 BX389506 AL571566 

    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

    DOPEY2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See DOPEY2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOPEY2

    SOURCE GeneReport for Unigene cluster: Hs.204575

    UniProtKB/Swiss-Prot: DOP2_HUMAN, Q9Y3R5
    Tissue specificity: Ubiquitously expressed. Overexpressed in lymphoblasts from Down syndrome patients

        SABiosciences Custom PCR Arrays for DOPEY2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOPEY2

    (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 DOPEY2 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DOPEY21 dopey family member 2 71.44(n)
    76.22(a)
      100858524  XM_003640493.1  XP_003640541.1 
    lizard
    (Anolis carolinensis)
    Reptilia DOPEY26
    --
    63(a)
    1 ↔ 1
    3(141489941-141570965)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636222 hypothetical protein MGC63622 74.4(n)   393582  BC056791.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG150996
    --
    26(a)
    1 → many
    2R(14724326-14734124)
    worm
    (Caenorhabditis elegans)
    Secernentea pad-16
    Protein pad-1
    22(a)
    1 → many
    I(12878585-12902794)


    ENSEMBL Gene Tree for DOPEY2 (if available)
    TreeFam Gene Tree for DOPEY2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DOPEY2 gene
    DOPEY12  
    1 SIMAP similar gene for DOPEY2 using alignment to 2 protein entries:     DOP2_HUMAN (see all proteins):
    DOPEY1

    DOPEY2 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

    10/2810 NCBI SNPs in DOPEY2 are shown (see all 2810    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114421931,2
    C,--37534843(+) CTTTC-/TTTTTT 1 -- us2k1 trp30--------
    rs1841755451,2
    --37534883(+) ACCCAG/TGCTGG 1 -- us2k10--------
    rs119089771,2
    C,F,H,--37534899(+) AGTGGC/TGCAGT 1 -- us2k19Minor allele frequency- T:0.37WA NA CSA EA 372
    rs1477517631,2
    --37535160(+) TATTTA/GGCAGT 1 -- us2k10--------
    rs37613551,2
    C,F,H,--37535219(+) TCTGGC/TGCTGG 1 -- us2k114Minor allele frequency- T:0.22NA WA CSA EA 380
    rs1892436331,2
    --37535370(+) CCAGGA/CGCGGT 1 -- us2k10--------
    rs1491332601,2
    --37535455(+) CTGACC/TAACAC 1 -- us2k10--------
    rs1422922801,2
    --37535471(+) ACCCCA/GTCTCT 1 -- us2k10--------
    rs1512722891,2
    --37535513(+) GGCACA/GTGCCT 1 -- us2k10--------
    rs1405240001,2
    --37535573(+) GGAAGC/GAGAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DOPEY2 (37529080 - 37711195 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for DOPEY2
         7 CNVs: 39303 8894 8893 103085 50772 34484 7322

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOPEY2
    DNA2.0 Custom Variant and Variant Library Synthesis for DOPEY2

    (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

    DOPEY2 for disorders           About GeneDecksing

    OMIM gene information: 604803    OMIM disorders: --

    2 diseases for DOPEY2:    About MalaCards
    intellectual disability    down syndrome

    1 disease from the University of Copenhagen DISEASES database for DOPEY2:
    Down syndrome
    Human Genome Epidemiology (HuGE) Navigator: DOPEY2 (1 document)

    Export disorders for DOPEY2 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 DOPEY2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with DOPEY2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Morphogenesis in Aspergillus nidulans requires Dopey (DopA), a member of a novel family of leucine zipper-like proteins conserved from yeast to humans. (PubMed id 10931277)1, 2, 3 Pascon R.C. and Miller B.L. (2000)
    2. Mon2, a relative of large Arf exchange factors, recruits Dop1 to the Golgi apparatus. (PubMed id 16301316)1, 3 Gillingham A.K.... Munro S. (2006)
    3. C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome. (PubMed id 16276086)1, 2 Rachidi M.... Delabar J.-M. (2006)
    4. C21orf5, a new member of Dopey family involved in mor phogenesis, could participate in neurological alterations and mental retardatio n in Down syndrome. (PubMed id 16303751)1, 3 Rachidi M....Delabar J.M. (2005)
    5. The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice. (PubMed id 12767918)1, 2 Lopes C.... Rachidi M. (2003)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    7. C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. (PubMed id 10950924)1, 2 Guipponi M.... Antonarakis S.E. (2000)
    8. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    9. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 9980 HGNC: 1291 AceView: C21orf5 Ensembl:ENSG00000142197 euGenes: HUgn9980
    ECgene: DOPEY2 H-InvDB: DOPEY2

    (According to HUGE)
    About This Section
    HUGE: KIAA0933

    (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 DOPEY2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOPEY2 gene:
    Search GeneIP for patents involving DOPEY2

    GeneCards and IP:
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     DOPEY2 Proteins, Antibodies, CLIAs, and ELISAs
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOPEY2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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