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MTIF2 mitochondrial translational initiation factor 2 [ Homo sapiens (human) ]

Gene ID: 4528, updated on 5-Mar-2024

Summary

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Official Symbol
MTIF2provided by HGNC
Official Full Name
mitochondrial translational initiation factor 2provided by HGNC
Primary source
HGNC:HGNC:7441
See related
Ensembl:ENSG00000085760 MIM:603766; AllianceGenome:HGNC:7441
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
Summary
During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in colon (RPKM 8.3), thyroid (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2p16.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55236595..55269248, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55233823..55266465, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55463731..55496384, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene clathrin heavy chain linker domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15778 Neighboring gene CDPF1 pseudogene 1 Neighboring gene ribosomal protein S27a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55496405-55497228 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55508487-55509380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55509381-55510272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516372-55516872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516873-55517373 Neighboring gene Sharpr-MPRA regulatory region 7699 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55530138-55530638 Neighboring gene coiled-coil domain containing 88A Neighboring gene uncharacterized LOC124907768

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
  • 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. MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance. Xu D, et al. Pharmacol Res, 2021 Jan. PMID 33129983
  2. Assignment1 of the mitochondrial translational initiation factor 2 gene (MTIF2) to human chromosome 2 bands p16-->p14 by in situ hybridization and with somatic cell hybrids. Bonner DS, et al. Cytogenet Cell Genet, 1998. PMID 9925935
  3. Cloning and sequence analysis of the human mitochondrial translational initiation factor 2 cDNA. Ma L, et al. J Biol Chem, 1995 Jan 27. PMID 7829522
  4. Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. Gelernter J, et al. Mol Psychiatry, 2014 Jan. PMID 24166409, Free PMC Article
  5. The human mitochondrial translation initiation factor 2 gene (MTIF2): transcriptional analysis and identification of a pseudogene. Overman RG Jr, et al. Biochim Biophys Acta, 2003 Aug 25. PMID 12932832

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance.
    Title: MTIF2 impairs 5 fluorouracil-mediated immunogenic cell death in hepatocellular carcinoma in vivo: Molecular mechanisms and therapeutic significance.
  2. This study identified a novel GWS association (1.17 x 10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and CCDC88A, across all of the EA and AA cohorts.
    Title: Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
Submit: New GeneRIF Correction

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

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
nucleocapsid gag HIV-1 NC downregulates mitochondrial translational initiation factor 2 in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

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 GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables ribosomal small subunit binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables translation factor activity, RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables translation initiation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial translational initiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of translational initiation TAS
Traceable Author Statement
more info
 PubMed 
involved_in ribosome disassembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
translation initiation factor IF-2, mitochondrial
Names
IF-2mt

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.

Genomic

  1. NG_047062.1 RefSeqGene

    Range
    5073..37709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005369.1 → NP_001005369.1  translation initiation factor IF-2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001005369.1

    Status: REVIEWED

    Source sequence(s)
    AF494407, BC002667, BC064977, BU684812
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  2. NM_001321001.1 → NP_001307930.1  translation initiation factor IF-2, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BU681583, CB961193
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  3. NM_001321002.1 → NP_001307931.1  translation initiation factor IF-2, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BP282053, BU681583, CB961193
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  4. NM_001321003.1 → NP_001307932.1  translation initiation factor IF-2, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BC067352, BU681583, CB961193
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  5. NM_001321004.1 → NP_001307933.1  translation initiation factor IF-2, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BU681583, CB961193, DB478758
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  6. NM_001321005.1 → NP_001307934.1  translation initiation factor IF-2, mitochondrial isoform b

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BU681583, CB961193
    UniProtKB/Swiss-Prot
    P46199
    Conserved Domains (4) summary
    pfam11987
    Location:272 → 363
    IF-2; Translation-initiation factor 2
    cd03692
    Location:381 → 468
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:111 → 205
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2
    cl21455
    Location:1 → 102
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  7. NM_002453.3 → NP_002444.2  translation initiation factor IF-2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_002444.2

    Status: REVIEWED

    Source sequence(s)
    AC012358, AF494407, BC064977, BU684812, CB961193
    Consensus CDS
    CCDS1853.1
    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Related
    ENSP00000263629.4, ENST00000263629.9
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    55236595..55269248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444424.1 → XP_047300380.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  2. XM_047444427.1 → XP_047300383.1  translation initiation factor IF-2, mitochondrial isoform X2

  3. XM_047444423.1 → XP_047300379.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  4. XM_047444431.1 → XP_047300387.1  translation initiation factor IF-2, mitochondrial isoform X2

  5. XM_011532871.3 → XP_011531173.1  translation initiation factor IF-2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011531173.1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Related
    ENSP00000384481.1, ENST00000403721.5
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  6. XM_047444425.1 → XP_047300381.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  7. XM_047444428.1 → XP_047300384.1  translation initiation factor IF-2, mitochondrial isoform X2

  8. XM_047444429.1 → XP_047300385.1  translation initiation factor IF-2, mitochondrial isoform X2

  9. XM_017004162.3 → XP_016859651.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  10. XM_017004164.3 → XP_016859653.1  translation initiation factor IF-2, mitochondrial isoform X2

  11. XM_047444426.1 → XP_047300382.1  translation initiation factor IF-2, mitochondrial isoform X2

  12. XM_047444430.1 → XP_047300386.1  translation initiation factor IF-2, mitochondrial isoform X2

  13. XM_017004163.2 → XP_016859652.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199
    Conserved Domains (5) summary
    cd01887
    Location:181 → 345
    IF2_eIF5B; Initiation Factor 2 (IF2)/ eukaryotic Initiation Factor 5B (eIF5B) family
    COG0532
    Location:176 → 718
    InfB; Translation initiation factor IF-2, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam11987
    Location:515 → 606
    IF-2; Translation-initiation factor 2
    cd03692
    Location:624 → 711
    mtIF2_IVc; C2 subdomain of domain IV in mitochondrial translation initiation factor 2
    cd03702
    Location:354 → 448
    IF2_mtIF2_II; Domain II of bacterial and mitochondrial Initiation Factor 2

  14. XM_047444432.1 → XP_047300388.1  translation initiation factor IF-2, mitochondrial isoform X3

  15. XM_047444433.1 → XP_047300389.1  translation initiation factor IF-2, mitochondrial isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    55233823..55266465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342148.1 → XP_054198123.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  2. XM_054342153.1 → XP_054198128.1  translation initiation factor IF-2, mitochondrial isoform X2

  3. XM_054342145.1 → XP_054198120.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  4. XM_054342157.1 → XP_054198132.1  translation initiation factor IF-2, mitochondrial isoform X2

  5. XM_054342146.1 → XP_054198121.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  6. XM_054342149.1 → XP_054198124.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  7. XM_054342154.1 → XP_054198129.1  translation initiation factor IF-2, mitochondrial isoform X2

  8. XM_054342155.1 → XP_054198130.1  translation initiation factor IF-2, mitochondrial isoform X2

  9. XM_054342147.1 → XP_054198122.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  10. XM_054342151.1 → XP_054198126.1  translation initiation factor IF-2, mitochondrial isoform X2

  11. XM_054342152.1 → XP_054198127.1  translation initiation factor IF-2, mitochondrial isoform X2

  12. XM_054342156.1 → XP_054198131.1  translation initiation factor IF-2, mitochondrial isoform X2

  13. XM_054342150.1 → XP_054198125.1  translation initiation factor IF-2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D6W5D0, P46199

  14. XM_054342158.1 → XP_054198133.1  translation initiation factor IF-2, mitochondrial isoform X3

  15. XM_054342159.1 → XP_054198134.1  translation initiation factor IF-2, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P46199.2 GenPept UniProtKB/Swiss-Prot:P46199

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