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    ESRRB estrogen related receptor beta [ Homo sapiens (human) ]

    Gene ID: 2103, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ESRRBprovided by HGNC
    Official Full Name
    estrogen related receptor betaprovided by HGNC
    Primary source
    HGNC:HGNC:3473
    See related
    Ensembl:ENSG00000119715 MIM:602167; AllianceGenome:HGNC:3473
    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
    ERR2; ERRb; ESRL2; NR3B2; DFNB35; ERRbeta2; ERR beta-2
    Summary
    This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 4.2), heart (RPKM 1.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESRRB in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (76310777..76501837)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (70444839..70711195)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76777120..76968180)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 43 Neighboring gene uncharacterized LOC105370573 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:76550227-76551213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76578893-76579424 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:76581183-76581684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76582665-76583491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76597945-76598444 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76604854-76605582 Neighboring gene G-patch domain containing 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8767 Neighboring gene uncharacterized LOC105370575 Neighboring gene Sharpr-MPRA regulatory region 6100 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:76770917-76771070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76776165-76776778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76795770-76796291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76796292-76796814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76796815-76797335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76800829-76801328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807160-76807660 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76807661-76808161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76852844-76853344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76952887-76953387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:76966323-76966862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77012337-77012836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017186-77017698 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77017699-77018211 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:77018212-77018723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77031271-77031770 Neighboring gene Sharpr-MPRA regulatory region 14992 Neighboring gene uncharacterized LOC105370576 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:77078938-77079518 Neighboring gene MPRA-validated peak2203 silencer Neighboring gene CYCS pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Expression profiling of nuclear receptors in human and mouse embryonic stem cells. Xie CQ, et al. Mol Endocrinol, 2009 May. PMID 19196830, Free PMC Article
    2. A polymorphism in human estrogen-related receptor beta (ESRRβ) predicts audiometric temporary threshold shift. Bhatt I, et al. Int J Audiol, 2016 Oct. PMID 27399974, Free PMC Article
    3. Messenger RNA profile analysis deciphers new Esrrb responsive genes in prostate cancer cells. Lu Y, et al. BMC Mol Biol, 2015 Dec 1. PMID 26627478, Free PMC Article
    4. ESRRB polymorphisms are associated with comorbidity of temporomandibular disorders and rotator cuff disease. Bonato LL, et al. Int J Oral Maxillofac Surg, 2016 Mar. PMID 26584852
    5. Estrogen-related Receptor β Reduces the Subnuclear Mobility of Estrogen Receptor α and Suppresses Estrogen-dependent Cellular Function. Tanida T, et al. J Biol Chem, 2015 May 8. PMID 25805499, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).
      Title: Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).
    2. SIRT1 mediates breast cancer development and tumorigenesis controlled by estrogen-related receptor beta.
      Title: SIRT1 mediates breast cancer development and tumorigenesis controlled by estrogen-related receptor β.
    3. Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.
      Title: Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.
    4. ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
      Title: ESRRB Inhibits the TGFβ Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.
    5. A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
      Title: A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
    6. Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
      Title: Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.
    7. Expression of estrogen-related receptors in ovarian cancer and impact on survival.
      Title: Expression of estrogen-related receptors in ovarian cancer and impact on survival.
    8. ESRRB regulates glucocorticoid gene expression in mice and patients with acute lymphoblastic leukemia.
      Title: ESRRB regulates glucocorticoid gene expression in mice and patients with acute lymphoblastic leukemia.
    9. Structural Insights into the Specificity of Ligand Binding and Coactivator Assembly by Estrogen-Related Receptor beta.
      Title: Structural Insights into the Specificity of Ligand Binding and Coactivator Assembly by Estrogen-Related Receptor β.
    10. The orphan nuclear receptor Esrrb plays a pioneering role in recruiting the core pluripotency factors Oct4, Sox2, and Nanog to inactive enhancers in closed chromatin during the reprogramming of epiblast stem cells.
      Title: Esrrb Unlocks Silenced Enhancers for Reprogramming to Naive Pluripotency.
    Submit: New GeneRIF Correction See all GeneRIFs (40)

    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
    Autosomal recessive nonsyndromic hearing loss 35
    MedGen: C1837857 OMIM: 608565 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA polymerase II complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables estrogen response element binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear steroid receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables steroid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell dedifferentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in embryonic placenta development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inner ear development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of stem cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stem cell population maintenance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in condensed chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of integrator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    steroid hormone receptor ERR2
    Names
    estrogen receptor-like 2
    estrogen-related nuclear receptor beta
    nuclear receptor ERRB2
    nuclear receptor subfamily 3 group B member 2
    orphan nuclear receptor

    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_012278.3 RefSeqGene

      Range
      70362..196062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001379180.1 → NP_001366109.1  steroid hormone receptor ERR2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC008050, AC016543
      Consensus CDS
      CCDS91910.1
      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      UniProtKB/TrEMBL
      A0A2R8Y491
      Related
      ENSP00000493776.1, ENST00000644823.1
      Conserved Domains (2) summary
      cd06946
      Location:233 → 452
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:119 → 214
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    2. NM_001411038.1 → NP_001397967.1  steroid hormone receptor ERR2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008050, AC016543
      Consensus CDS
      CCDS91909.1
      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      UniProtKB/TrEMBL
      E7EWD9
      Related
      ENSP00000424992.2, ENST00000512784.6

    3. NM_004452.4 → NP_004443.3  steroid hormone receptor ERR2 isoform 1

      See identical proteins and their annotated locations for NP_004443.3

      Status: REVIEWED

      Source sequence(s)
      AC008050, AC016543
      Consensus CDS
      CCDS9850.2
      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      Related
      ENSP00000370270.2, ENST00000380887.7
      Conserved Domains (2) summary
      cd06946
      Location:212 → 431
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:98 → 193
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      76310777..76501837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431079.1 → XP_047287035.1  steroid hormone receptor ERR2 isoform X2

    2. XM_011536553.3 → XP_011534855.1  steroid hormone receptor ERR2 isoform X3

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      Conserved Domains (2) summary
      cd06946
      Location:233 → 452
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:119 → 214
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    3. XM_011536547.3 → XP_011534849.1  steroid hormone receptor ERR2 isoform X1

      Conserved Domains (3) summary
      cd06946
      Location:233 → 452
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:119 → 214
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
      pfam15502
      Location:455 → 524
      MPLKIP; M-phase-specific PLK1-interacting protein

    4. XM_011536554.3 → XP_011534856.1  steroid hormone receptor ERR2 isoform X4

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      Conserved Domains (3) summary
      cd06946
      Location:233 → 452
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:119 → 214
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
      pfam15502
      Location:455 → 522
      MPLKIP; M-phase-specific PLK1-interacting protein

    5. XM_024449508.2 → XP_024305276.1  steroid hormone receptor ERR2 isoform X5

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      Related
      ENSP00000423004.1, ENST00000505752.6
      Conserved Domains (2) summary
      cd06946
      Location:233 → 452
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:119 → 214
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    6. XM_011536550.3 → XP_011534852.1  steroid hormone receptor ERR2 isoform X2

      See identical proteins and their annotated locations for XP_011534852.1

      Conserved Domains (3) summary
      cd06946
      Location:212 → 431
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:98 → 193
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
      pfam15502
      Location:434 → 503
      MPLKIP; M-phase-specific PLK1-interacting protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      70444839..70711195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375568.1 → XP_054231543.1  steroid hormone receptor ERR2 isoform X6

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4
      UniProtKB/TrEMBL
      E7EWD9

    2. XM_054375565.1 → XP_054231540.1  steroid hormone receptor ERR2 isoform X3

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4

    3. XM_054375563.1 → XP_054231538.1  steroid hormone receptor ERR2 isoform X1

    4. XM_054375566.1 → XP_054231541.1  steroid hormone receptor ERR2 isoform X4

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4

    5. XM_054375567.1 → XP_054231542.1  steroid hormone receptor ERR2 isoform X5

      UniProtKB/Swiss-Prot
      A2VDJ2, B6ZGU4, O95718, Q5F0P7, Q5F0P8, Q9HCB4

    6. XM_054375564.1 → XP_054231539.1  steroid hormone receptor ERR2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95718.3 GenPept UniProtKB/Swiss-Prot:O95718

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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