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    GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [ Homo sapiens (human) ]

    Gene ID: 2651, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GCNT2provided by HGNC
    Official Full Name
    glucosaminyl (N-acetyl) transferase 2 (I blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4204
    See related
    Ensembl:ENSG00000111846 MIM:600429; AllianceGenome:HGNC:4204
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2
    Summary
    This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GCNT2 in Genome Data Viewer
    Location:
    6p24.3-p24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10521351..10629368)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10389059..10497066)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10521584..10629601)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10466572-10467078 Neighboring gene long intergenic non-protein coding RNA 2522 Neighboring gene uncharacterized LOC101928146 Neighboring gene glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10518715-10519215 Neighboring gene NFE2L2 motif-containing MPRA enhancer 266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10519455-10520150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23969 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10555959-10556854 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:10558788-10559335 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10559462-10560216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10564953-10565514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575275-10575920 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575921-10576566 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10576567-10577212 Neighboring gene Sharpr-MPRA regulatory region 5327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10582905-10583878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10585827-10586799 Neighboring gene ribosomal protein L21 pseudogene 63 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10589255-10589802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10596165-10597152 Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene chromosome 6 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target. Perez M, et al. Br J Dermatol, 2021 Aug. PMID 33660254, Free PMC Article
    2. Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane. Fukuda M, et al. J Biol Chem, 1979 May 25. PMID 438154
    3. Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. Yu LC, et al. Blood, 2001 Dec 15. PMID 11739194
    4. Evidence for involvement of a hydrophobic patch in framework region 1 of human V4-34-encoded Igs in recognition of the red blood cell I antigen. Potter KN, et al. J Immunol, 2002 Oct 1. PMID 12244172
    5. A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. Inaba N, et al. Blood, 2003 Apr 1. PMID 12468428

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target.
      Title: Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target.
    2. I-branched glycans catalyzed principally by the I-branching enzyme GCNT2 are now indicated in several malignancies.
      Title: I-branched carbohydrates as emerging effectors of malignant progression.
    3. study suggested that GCNT2 was highly expressed in patients with esophageal squamous cell carcinoma and predicted adverse outcome; overexpression of GCNT2 induces epithelial-mesenchymal transition and promotes migration and invasion in ESCC cells; therefore, GCNT2 may act as a candidate prognostic indicator of outcome and a novel target in ESCC patients
      Title: GCNT2 induces epithelial-mesenchymal transition and promotes migration and invasion in esophageal squamous cell carcinoma cells.
    4. miR-199a/b-5p regulates GCNT2 and I antigen expression in colon cancer cells undergoing EMT
      Title: Downregulation of miR-199a/b-5p is associated with GCNT2 induction upon epithelial-mesenchymal transition in colon cancer.
    5. This study reports a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.
      Title: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
    6. GCNT2 expression is closely associated with invasive potential of prostate cancer.
      Title: I-branching N-acetylglucosaminyltransferase regulates prostate cancer invasiveness by enhancing α5β1 integrin signaling.
    7. Hypomethylation of the GCNT2 variant 2 reflected lymph node metastasis of colorectal cancer in the tumor and normal tissues.
      Title: Aberrant methylation of GCNT2 is tightly related to lymph node metastasis of primary CRC.
    8. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
      Title: An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
    9. Results show involvement of GCNT2 in EMT and TGF-beta signaling, and further glycosylation modification of E-cadherin by GCNT2, are the underlying integrative mechanisms for breast cancer metastasis.
      Title: Engagement of I-branching {beta}-1, 6-N-acetylglucosaminyltransferase 2 in breast cancer metastasis and TGF-{beta} signaling.
    10. In the family with the "ii" blood group a novel GCNT2 mutation was found in the cataract patients.
      Title: Hematologic biomarkers in childhood cataracts.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Blood group, I system
    MedGen: C0020717 OMIM: 110800 GeneReviews: Not available
    		Compare labs
    Cataract 13 with adult I phenotype
    MedGen: C3805373 OMIM: 116700 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC163396

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycosaminoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in maintenance of lens transparency IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multicellular organism development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of heterotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in post-transcriptional regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
    Names
    I beta-1,6-N-acetylglucosaminyltransferase
    Ii blood group
    beta-1,6-N-acetylglucosaminyltransferase 2
    glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
    NP_001361676.1
    NP_001482.1
    NP_663624.1
    NP_663630.2
    XP_005249054.1
    XP_005249056.1
    XP_006715115.1
    XP_011512770.1
    XP_047274588.1
    XP_047274589.1
    XP_054188133.1
    XP_054188134.1
    XP_054188135.1
    XP_054188136.1
    XP_054188137.1
    XP_054188138.1
    XP_054188139.1
    XP_054188140.1
    XP_054211120.1
    XP_054211121.1
    XP_054211122.1
    XP_054211123.1
    XP_054211124.1
    XP_054211125.1
    XP_054211126.1
    XP_054211127.1
    XP_054211128.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007469.3 RefSeqGene

      Range
      34129..142146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_819

    mRNA and Protein(s)

    1. NM_001374747.1 → NP_001361676.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

      Status: REVIEWED

      Source sequence(s)
      AL139039, AL358777
      Consensus CDS
      CCDS34338.1
      UniProtKB/Swiss-Prot
      Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
      UniProtKB/TrEMBL
      Q08M29
      Related
      ENSP00000368917.3, ENST00000379597.7
      Conserved Domains (1) summary
      pfam02485
      Location:97 → 357
      Branch; Core-2/I-Branching enzyme

    2. NM_001491.3 → NP_001482.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B

      See identical proteins and their annotated locations for NP_001482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes isoform B.
      Source sequence(s)
      AL139039, AL358777
      Consensus CDS
      CCDS4512.1
      UniProtKB/TrEMBL
      Q8WXK6, Q8WXK7
      Related
      ENSP00000314844.3, ENST00000316170.9
      Conserved Domains (1) summary
      pfam02485
      Location:95 → 356
      Branch; Core-2/I-Branching enzyme

    3. NM_145649.5 → NP_663624.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

      See identical proteins and their annotated locations for NP_663624.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains a different 5' end exon compared to variant 2. The encoded isoform (A) is longer and has a distinct N-terminus, compared to isoform B.
      Source sequence(s)
      AL139039, AL358777
      Consensus CDS
      CCDS34338.1
      UniProtKB/Swiss-Prot
      Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
      UniProtKB/TrEMBL
      Q08M29
      Related
      ENSP00000419411.2, ENST00000495262.7
      Conserved Domains (1) summary
      pfam02485
      Location:97 → 357
      Branch; Core-2/I-Branching enzyme

    4. NM_145655.4 → NP_663630.2  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C

      See identical proteins and their annotated locations for NP_663630.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different 5' end exon compared to variant 2. The encoded isoform (C) is longer and has a distinct N-terminus, compared to isoform B.
      Source sequence(s)
      AL358777
      Consensus CDS
      CCDS4513.1
      UniProtKB/TrEMBL
      A0AAG2TJN9
      Related
      ENSP00000265012.4, ENST00000265012.5
      Conserved Domains (1) summary
      pfam02485
      Location:97 → 358
      Branch; Core-2/I-Branching enzyme

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      10521351..10629368
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715052.4 → XP_006715115.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

      See identical proteins and their annotated locations for XP_006715115.1

      UniProtKB/Swiss-Prot
      Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
      UniProtKB/TrEMBL
      Q08M29
      Conserved Domains (1) summary
      pfam02485
      Location:97 → 357
      Branch; Core-2/I-Branching enzyme

    2. XM_047418633.1 → XP_047274589.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    3. XM_005248999.3 → XP_005249056.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

      See identical proteins and their annotated locations for XP_005249056.1

      UniProtKB/TrEMBL
      Q08M29
      Conserved Domains (1) summary
      pfam02485
      Location:20 → 281
      Branch; Core-2/I-Branching enzyme

    4. XM_047418632.1 → XP_047274588.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

    5. XM_011514468.4 → XP_011512770.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

      Conserved Domains (1) summary
      pfam02485
      Location:97 → 316
      Branch; Core-2/I-Branching enzyme

    6. XM_005248997.4 → XP_005249054.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

      UniProtKB/TrEMBL
      A0AAG2TJ15
      Conserved Domains (1) summary
      pfam02485
      Location:95 → 302
      Branch; Core-2/I-Branching enzyme

    RNA

    1. XR_926136.3 RNA Sequence

    2. XR_002956275.2 RNA Sequence

    3. XR_007059235.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654713.1 Reference GRCh38.p14 PATCHES

      Range
      32235..140252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332163.1 → XP_054188138.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    2. XM_054332161.1 → XP_054188136.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

    3. XM_054332165.1 → XP_054188140.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

    4. XM_054332158.1 → XP_054188133.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

      UniProtKB/Swiss-Prot
      Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9

    5. XM_054332164.1 → XP_054188139.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    6. XM_054332159.1 → XP_054188134.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X6

    7. XM_054332160.1 → XP_054188135.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

    8. XM_054332162.1 → XP_054188137.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X7

    RNA

    1. XR_008485746.1 RNA Sequence

    2. XR_008485748.1 RNA Sequence

    3. XR_008485747.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10389059..10497066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355151.1 → XP_054211126.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    2. XM_054355147.1 → XP_054211122.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X8

    3. XM_054355149.1 → XP_054211124.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

    4. XM_054355153.1 → XP_054211128.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

    5. XM_054355145.1 → XP_054211120.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

      UniProtKB/Swiss-Prot
      Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9

    6. XM_054355152.1 → XP_054211127.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    7. XM_054355146.1 → XP_054211121.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X6

    8. XM_054355148.1 → XP_054211123.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

    9. XM_054355150.1 → XP_054211125.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X9

    RNA

    1. XR_008487295.1 RNA Sequence

    2. XR_008487297.1 RNA Sequence

    3. XR_008487296.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0V5.1 GenPept UniProtKB/Swiss-Prot:Q8N0V5

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