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    Stxbp5l syntaxin binding protein 5-like [ Mus musculus (house mouse) ]

    Gene ID: 207227, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Stxbp5lprovided by MGI
    Official Full Name
    syntaxin binding protein 5-likeprovided by MGI
    Primary source
    MGI:MGI:2443815
    See related
    Ensembl:ENSMUSG00000022829 AllianceGenome:MGI:2443815
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    LLGL4; T2dm1; t2md1; tomosyn-2; 9430094L02; A830015P08Rik
    Summary
    Predicted to enable GTPase activator activity; myosin II binding activity; and syntaxin binding activity. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within glucose homeostasis; negative regulation of insulin secretion; and regulation of exocytosis. Is active in neuromuscular junction and neuronal dense core vesicle. Is expressed in several structures, including alimentary system; brain; male reproductive gland or organ; spinal cord; and trigeminal nerve. Orthologous to human STXBP5L (syntaxin binding protein 5L). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 6.9), frontal lobe adult (RPKM 4.8) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Stxbp5l in Genome Data Viewer
    Location:
    16 26.32 cM; 16 B3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (36927437..37205377, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (37107075..37385015, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40777 Neighboring gene STARR-seq mESC enhancer starr_40778 Neighboring gene STARR-positive B cell enhancer ABC_E8633 Neighboring gene STARR-positive B cell enhancer ABC_E950 Neighboring gene F-box protein 40 Neighboring gene polymerase (DNA directed), theta Neighboring gene STARR-seq mESC enhancer starr_40780 Neighboring gene STARR-seq mESC enhancer starr_40781 Neighboring gene LIM and senescent cell antigen like domains 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40782 Neighboring gene predicted gene, 57640 Neighboring gene STARR-seq mESC enhancer starr_40783 Neighboring gene STARR-positive B cell enhancer ABC_E2461 Neighboring gene general transcription factor II E, polypeptide 1 (alpha subunit) Neighboring gene RAB, member RAS oncogene family-like 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. Katoh M, et al. Int J Oncol, 2004 Mar. PMID 14767561
    2. Positional cloning of a type 2 diabetes quantitative trait locus; tomosyn-2, a negative regulator of insulin secretion. Bhatnagar S, et al. PLoS Genet, 2011 Oct. PMID 21998599, Free PMC Article
    3. Two distinct genes drive expression of seven tomosyn isoforms in the mammalian brain, sharing a conserved structure with a unique variable domain. Groffen AJ, et al. J Neurochem, 2005 Feb. PMID 15659226
    4. Tomosyn associates with secretory vesicles in neurons through its N- and C-terminal domains. Geerts CJ, et al. PLoS One, 2017. PMID 28746398, Free PMC Article
    5. Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci. Stoehr JP, et al. Diabetes, 2000 Nov. PMID 11078464

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data indicate that bidirectional moving tomosyn-1 (Stxbp5) and tomosyn-2 (Stxbp5l) puncta were observed.
      Title: Tomosyn associates with secretory vesicles in neurons through its N- and C-terminal domains.
    2. tomosyn-2 supports motor performance by regulation of transmitter release willingness to sustain synaptic strength during high-frequency transmission, which makes this gene a candidate for involvement in neuromuscular disorders.
      Title: Tomosyn-2 is required for normal motor performance in mice and sustains neurotransmission at motor endplates.
    3. Data indicate that glucose induces phosphorylation, ubiquitination, and degradation of tomosyn-2.
      Title: Phosphorylation and degradation of tomosyn-2 de-represses insulin secretion.
    4. these findings suggest that tomosyn-2 is a key negative regulator of insulin secretion.
      Title: Positional cloning of a type 2 diabetes quantitative trait locus; tomosyn-2, a negative regulator of insulin secretion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    type 2 diabetes mellitus 1
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC169507

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myosin II binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables syntaxin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of exocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle exocytosis EXP
    Inferred from Experiment
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle exocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuromuscular junction EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in neuronal dense core vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuronal dense core vesicle IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in neuronal dense core vesicle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    syntaxin-binding protein 5-like
    Names
    insulin level locus 1
    lethal(2) giant larvae protein homolog 4
    tomosyn 2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001114611.2 → NP_001108083.1  syntaxin-binding protein 5-like isoform s

      See identical proteins and their annotated locations for NP_001108083.1

      Status: VALIDATED

      Source sequence(s)
      AC113964, AC116468, AC155254
      Consensus CDS
      CCDS49846.1
      UniProtKB/TrEMBL
      B7ZN48
      Related
      ENSMUSP00000110428.2, ENSMUST00000114780.8
      Conserved Domains (5) summary
      COG2319
      Location:108 → 493
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1037 → 1097
      R-SNARE_STXBP5; SNARE domain of STXBP5
      pfam08366
      Location:288 → 395
      LLGL; LLGL2
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001114612.2 → NP_001108084.1  syntaxin-binding protein 5-like isoform b

      See identical proteins and their annotated locations for NP_001108084.1

      Status: VALIDATED

      Source sequence(s)
      AC113964, AC116468, AC155254
      Consensus CDS
      CCDS49847.1
      UniProtKB/TrEMBL
      B2RQE5
      Related
      ENSMUSP00000110430.2, ENSMUST00000114782.8
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1094 → 1154
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. NM_001114613.2 → NP_001108085.1  syntaxin-binding protein 5-like isoform m

      See identical proteins and their annotated locations for NP_001108085.1

      Status: VALIDATED

      Source sequence(s)
      AC113964, AC116468, AC155254
      Consensus CDS
      CCDS49848.1
      UniProtKB/TrEMBL
      B7ZN48
      Related
      ENSMUSP00000110429.2, ENSMUST00000114781.8
      Conserved Domains (5) summary
      COG2319
      Location:108 → 493
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1061 → 1121
      R-SNARE_STXBP5; SNARE domain of STXBP5
      pfam08366
      Location:288 → 395
      LLGL; LLGL2
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. NM_172440.4 → NP_766028.2  syntaxin-binding protein 5-like isoform xb

      See identical proteins and their annotated locations for NP_766028.2

      Status: VALIDATED

      Source sequence(s)
      AC113964, AC116468, AC155254
      Consensus CDS
      CCDS28159.2
      UniProtKB/Swiss-Prot
      Q3TSM3, Q3UVG2, Q5DQR1, Q5DQR2, Q5DQR3, Q5DQR4, Q8BS52
      UniProtKB/TrEMBL
      B7ZN49
      Related
      ENSMUSP00000110435.2, ENSMUST00000114787.8
      Conserved Domains (5) summary
      COG2319
      Location:108 → 493
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1118 → 1178
      R-SNARE_STXBP5; SNARE domain of STXBP5
      pfam08366
      Location:288 → 395
      LLGL; LLGL2
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      36927437..37205377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159822.1 → XP_036015715.1  syntaxin-binding protein 5-like isoform X5

      UniProtKB/TrEMBL
      B7ZN48
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1068 → 1128
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_006521886.4 → XP_006521949.1  syntaxin-binding protein 5-like isoform X2

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1125 → 1185
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_036159821.1 → XP_036015714.1  syntaxin-binding protein 5-like isoform X4

      UniProtKB/TrEMBL
      B7ZN48
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1092 → 1152
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_006521884.4 → XP_006521947.1  syntaxin-binding protein 5-like isoform X1

      See identical proteins and their annotated locations for XP_006521947.1

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1149 → 1209
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_036159824.1 → XP_036015717.1  syntaxin-binding protein 5-like isoform X6

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:956 → 1016
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    6. XM_017316899.3 → XP_017172388.1  syntaxin-binding protein 5-like isoform X6

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:956 → 1016
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    7. XM_036159823.1 → XP_036015716.1  syntaxin-binding protein 5-like isoform X6

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:956 → 1016
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    8. XM_030249014.1 → XP_030104874.1  syntaxin-binding protein 5-like isoform X10

      Conserved Domains (1) summary
      cd15893
      Location:722 → 782
      R-SNARE_STXBP5; SNARE domain of STXBP5

    9. XM_030249013.1 → XP_030104873.1  syntaxin-binding protein 5-like isoform X9

      Conserved Domains (1) summary
      cd15893
      Location:746 → 806
      R-SNARE_STXBP5; SNARE domain of STXBP5

    10. XM_036159827.1 → XP_036015720.1  syntaxin-binding protein 5-like isoform X11

      Conserved Domains (1) summary
      cd15893
      Location:634 → 694
      R-SNARE_STXBP5; SNARE domain of STXBP5

    11. XM_036159826.1 → XP_036015719.1  syntaxin-binding protein 5-like isoform X8

      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:901 → 961
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    12. XM_036159825.1 → XP_036015718.1  syntaxin-binding protein 5-like isoform X7

      UniProtKB/TrEMBL
      B7ZN49
      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:925 → 985
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    13. XM_030249011.2 → XP_030104871.1  syntaxin-binding protein 5-like isoform X3

      UniProtKB/TrEMBL
      B2RQE5
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1094 → 1154
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    14. XM_006521885.5 → XP_006521948.1  syntaxin-binding protein 5-like isoform X1

      See identical proteins and their annotated locations for XP_006521948.1

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (5) summary
      COG2319
      Location:248 → 551
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:1149 → 1209
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:73 → 106
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:287 → 395
      LLGL; LLGL2
      cl29593
      Location:73 → 280
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    15. XM_011245849.3 → XP_011244151.1  syntaxin-binding protein 5-like isoform X6

      UniProtKB/TrEMBL
      B7ZN50
      Conserved Domains (4) summary
      COG2319
      Location:9 → 285
      WD40; WD40 repeat [General function prediction only]
      cd15893
      Location:956 → 1016
      R-SNARE_STXBP5; SNARE domain of STXBP5
      sd00039
      Location:17 → 54
      7WD40; WD40 repeat [structural motif]
      pfam08366
      Location:94 → 202
      LLGL; LLGL2

    16. XM_011245850.2 → XP_011244152.1  syntaxin-binding protein 5-like isoform X9

      Conserved Domains (1) summary
      cd15893
      Location:746 → 806
      R-SNARE_STXBP5; SNARE domain of STXBP5
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5DQR4.1 GenPept UniProtKB/Swiss-Prot:Q5DQR4

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