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

KIAA2022 Gene

protein-coding   GIFtS: 45
GCID: GC0XM073872

KIAA2022

  See related diseases
at  

(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
KIAA20221 2
XPN2
Uncharacterized Protein KIAA20222
XLMR Protein Related To Neurite Extension2

External Ids:    HGNC: 294331   Entrez Gene: 3405332   Ensembl: ENSG000000500307   OMIM: 3005245   UniProtKB: Q5QGS03   

Export aliases for KIAA2022 gene to outside databases

Previous GC identifers: GC0XM072167 GC0XM072820 GC0XM073736 GC0XM067587


(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 KIAA2022 Gene:
An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located
in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.(provided by
RefSeq, Mar 2009)

GeneCards Summary for KIAA2022 Gene: 
KIAA2022 (KIAA2022) is a protein-coding gene. Diseases associated with KIAA2022 include intellectual deficit, x-linked, cantagrel type, and kiaa2022-related x-linked mental retardation. GO annotations related to this gene include 3'-5' exonuclease activity and DNA-directed DNA polymerase activity. An important paralog of this gene is REV3L.




(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_000023.10  NC_018934.2  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA2022 gene promoter:
         GR   SRF   TBP   Pax-6   SRF (504 AA)   Nkx2-5   STAT1alpha   STAT3   IRF-7A   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA2022 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA2022

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA2022


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq13.3   HGNC cytogenetic band: Xq13.3

KIAA2022 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA2022 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM073872:  view genomic region     (about GC identifiers)

Start:
73,952,684 bp from pter      End:
74,145,320 bp from pter
Size:
192,637 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: K2022_HUMAN, Q5QGS0 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA2022  
Size: 1516 amino acids; 167551 Da
Sequence caution: Sequence=BAC23118.1; Type=Erroneous initiation;
Secondary accessions: A7YY87 Q5JUX9 Q8IVE9

Explore the universe of human proteins at neXtProt for KIAA2022: NX_Q5QGS0

Explore proteomics data for KIAA2022 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5QGS0

  • KIAA2022 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA2022 Protein Expression
    REFSEQ proteins: NP_001008537.1  
    ENSEMBL proteins: 
     ENSP00000362567   ENSP00000407055   ENSP00000055682  

    Human Recombinant Protein Products for KIAA2022: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0043625delta DNA polymerase complex IBA--

    KIAA2022 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q5QGS0


    (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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003887DNA-directed DNA polymerase activity IBA--
    GO:00084083'-5' exonuclease activity IBA--
         
    KIAA2022 for ontologies           About GeneDecksing


    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA2022

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for KIAA2022 (Q5QGS02, 3 ENSP000000556824) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    CHRAC1ENSP000002209134STRING: ENSP00000220913
    CRCPENSP000003787364STRING: ENSP00000378736
    MAD2L2ENSP000002353104STRING: ENSP00000235310
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006287base-excision repair, gap-filling IBA--
    GO:0006297nucleotide-excision repair, DNA gap filling IBA--
    GO:0007346regulation of mitotic cell cycle IBA--
    GO:0019985NOT translesion synthesis IBA--
    GO:0043137DNA replication, removal of RNA primer IBA--

    KIAA2022 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA2022 (K2022)

    Search CenterWatch for drugs/clinical trials and news about KIAA2022 / K2022

    (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 KIAA2022 gene: 
    NM_001008537.2  

    Unigene Cluster for KIAA2022:

    KIAA2022
    Hs.124128  [show with all ESTs]
    Unigene Representative Sequence: NM_001008537
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373468(uc004eby.3) ENST00000424929 ENST00000055682
    miRNA
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    8/161 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA2022 (see all 161):
    hsa-miR-3938 hsa-miR-1245 hsa-miR-1260b hsa-miR-130b hsa-miR-374b* hsa-let-7e hsa-miR-608 hsa-miR-4296
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    Additional mRNA sequence: 

    AB095942.1 AK128651.1 AK307471.1 AY563507.1 BC038798.1 BC152557.1 

    2 DOTS entries:

    DT.205828  DT.75105839 

    24/33 AceView cDNA sequences (see all 33):

    AI167637 BE669952 BC038798 AK128651 AI885844 AA350307 AB095942 AI498249 
    BF433828 AI801888 Z45363 BX951403 BM976023 AW953251 BX111589 AA862257 
    AW242757 BX477655 Z41078 BI912827 AL700133 BX477656 F06484 CA776064 

    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

    KIAA2022 expression in normal human tissues (normalized intensities)      KIAA2022 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGAAAGA
    KIAA2022 Expression
    About this image


    KIAA2022 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
             brain/midbrain   

    See KIAA2022 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA2022

    SOURCE GeneReport for Unigene cluster: Hs.124128

    UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0
    Tissue specificity: Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the
    cerebellum. Also expressed in other tissues but to a lesser extent

        SABiosciences Custom PCR Arrays for KIAA2022
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA2022

    (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 and fungi.

    Orthologs for KIAA2022 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C773701 , 5 expressed sequence C773701, 5 87.75(n)1
    85.99(a)1
      X (46.48 cM)5
    2455551  NM_001077354.21  NP_001070822.21 
     1040774345 
    chicken
    (Gallus gallus)
    Aves KIAA20221 KIAA2022 70.12(n)
    65.44(a)
      422325  XM_420300.3  XP_420300.3 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA20226
    Uncharacterized protein
    59(a)
    1 ↔ 1
    GL343813.1(143707-157056)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.153752 Transcribed sequences 87.98(n)    CK361953.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37B11A.26
    Protein Y37B11A.2
    1(a)
    1 ↔ 1
    III(5774678-5782019)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes REV36
    Catalytic subunit of DNA polymerase zeta, involved...
    1(a)
    1 → many
    XVI(232593-237107)


    ENSEMBL Gene Tree for KIAA2022 (if available)
    TreeFam Gene Tree for KIAA2022 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIAA2022 gene
    REV3L2  

    KIAA2022 for paralogs           About GeneDecksing



    (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

    10/2412 SNPs in KIAA2022 are shown (see all 2412)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862695221,2
    --67780731(+) ATTTGC/GGTTTA 1 -- int10--------
    rs1908500151,2
    --67780734(+) TGGGTG/TTACTA 1 -- int10--------
    rs584358041,2
    C,F--67780883(+) TACTAC/AGTTAA 1 -- int12Minor allele frequency- A:0.33WA CSA 3
    rs1907253451,2
    --73960449(+) TCCAGC/TGAGAA 1 -- ds50010--------
    rs1829205631,2
    --73960533(+) GCTCAC/TGTGTG 1 -- ds50010--------
    rs1886733661,2
    --73960673(+) ACTGAG/TTTCGG 1 -- ds50010--------
    rs1923173291,2
    --73960945(+) AAGAAC/TCCCCT 1 -- ut310--------
    rs1828961601,2
    --73961011(+) GGGATC/TTTGTT 1 -- ut310--------
    rs1874989411,2
    --73961048(+) TTGGTA/GTAGGG 1 -- ut310--------
    rs1922629791,2
    --73961068(+) TCGCAC/TTCCTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA2022 (73952684 - 74145320 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIAA2022: --

    Human Gene Mutation Database (HGMD): KIAA2022

    Locus Specific Mutation Databases (LSDB): KIAA2022
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA2022
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA2022

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300524    OMIM disorders: --

    UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0
  • Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation
    (MR). Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022
    gene. KIAA2022 protein is no longer expressed in these patients lymphocytes

  • 5 diseases for KIAA2022:    About MalaCards
    intellectual deficit, x-linked, cantagrel type    kiaa2022-related x-linked mental retardation    intellectual disability    mental retardation
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for KIAA2022:
    Intellectual disability

    KIAA2022 for disorders           About GeneDecksing


    Export disorders for KIAA2022 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 KIAA2022 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KIAA2022)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. (PubMed id 15466006)1, 2, 3 Cantagrel V.... Villard L. (2004)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. XLMR protein related to neurite extension (Xpn/KIAA202 2) regulates cell-cell and cell-matrix adhesion and migration. (PubMed id 24071057)1 Magome T....Katayama T. (2013)
    4. Loss of function of KIAA2022 causes mild to severe int ellectual disability with an autism spectrum disorder and impairs neurite outgro wth. (PubMed id 23615299)1 Van Maldergem L....Man H.Y. (2013)
    5. Transient expression of Xpn, an XLMR protein related t o neurite extension, during brain development and participation in neurite outgr owth. (PubMed id 22531377)1 Ishikawa T....Tohyama M. (2012)
    6. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 340533 HGNC: 29433 AceView: KIAA2022 Ensembl:ENSG00000050030 euGenes: HUgn340533
    ECgene: KIAA2022 H-InvDB: KIAA2022

    (According to HUGE)
    About This Section
    HUGE: KIAA2022

    (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 KIAA2022 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 KIAA2022 gene:
    Search GeneIP for patents involving KIAA2022

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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