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Aliases for ZEB1 Gene

Aliases for ZEB1 Gene

  • Zinc Finger E-Box Binding Homeobox 1 2 3 5
  • Transcription Factor 8 (Represses Interleukin 2 Expression) 2 3
  • Posterior Polymorphous Corneal Dystrophy 3 2 3
  • Negative Regulator Of IL2 3 4
  • AREB6 3 4
  • TCF8 3 4
  • Zinc Finger Homeodomain Enhancer-Binding Protein 3
  • Delta-Crystallin Enhancer Binding Factor 1 3
  • Zinc Finger E-Box-Binding Homeobox 1 3
  • NIL-2-A Zinc Finger Protein 4
  • Transcription Factor 8 4
  • DELTAEF1 3
  • ZFHX1A 3
  • FECD6 3
  • NIL2A 3
  • ZFHEP 3
  • PPCD3 3
  • TCF-8 4
  • BZP 3

External Ids for ZEB1 Gene

Previous HGNC Symbols for ZEB1 Gene

  • TCF8
  • PPCD3

Previous GeneCards Identifiers for ZEB1 Gene

  • GC10P031648

Summaries for ZEB1 Gene

Entrez Gene Summary for ZEB1 Gene

  • This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

CIViC summary for ZEB1 Gene

GeneCards Summary for ZEB1 Gene

ZEB1 (Zinc Finger E-Box Binding Homeobox 1) is a Protein Coding gene. Diseases associated with ZEB1 include Corneal Dystrophy, Fuchs Endothelial, 6 and Corneal Dystrophy, Posterior Polymorphous, 3. Among its related pathways are ERK Signaling and MicroRNAs in cancer. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding. An important paralog of this gene is ZEB2.

UniProtKB/Swiss-Prot for ZEB1 Gene

  • Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5-CANNTG-3). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.

Gene Wiki entry for ZEB1 Gene

Additional gene information for ZEB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZEB1 Gene

Genomics for ZEB1 Gene

GeneHancer (GH) Regulatory Elements for ZEB1 Gene

Promoters and enhancers for ZEB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J031316 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1601 6.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 ZEB1-AS1 ZEB1 SPTLC1P1 ENSG00000226842 MTPAP RPS4XP11
GH10J031353 Enhancer 0.8 ENCODE 12.9 +35.3 35312 0.2 CTCF PKNOX1 FOXA2 JUN BACH1 BATF IRF4 RAD21 BRCA1 CTBP1 ZEB1-AS1 ZEB1 GC10M031352
GH10J031090 Enhancer 0.9 ENCODE dbSUPER 4.9 -227.4 -227419 0.6 PKNOX1 EBF1 IRF4 RELA CTBP1 EED NFATC1 ATF7 BCLAF1 IKZF2 ENSG00000272381 ZEB1 GC10P031099 GC10M031018 LOC105376481
GH10J031752 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.6 +438.9 438889 9.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF548 ENSG00000222412 EPC1 ENSG00000226842 KIF5B ZEB1 HMGB1P7
GH10J031314 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.7 -3.1 -3134 2.4 ZNF148 JUND ZSCAN16 JUN HNF4A FOS ZEB1-AS1 ZEB1 GC10P031309
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZEB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZEB1 gene promoter:
  • MyoD
  • AREB6

Genomic Locations for ZEB1 Gene

Genomic Locations for ZEB1 Gene
chr10:31,318,495-31,529,814
(GRCh38/hg38)
Size:
211,320 bases
Orientation:
Plus strand
chr10:31,607,424-31,818,742
(GRCh37/hg19)
Size:
211,319 bases
Orientation:
Plus strand

Genomic View for ZEB1 Gene

Genes around ZEB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZEB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZEB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZEB1 Gene

Proteins for ZEB1 Gene

  • Protein details for ZEB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37275-ZEB1_HUMAN
    Recommended name:
    Zinc finger E-box-binding homeobox 1
    Protein Accession:
    P37275
    Secondary Accessions:
    • B4DJV0
    • B4DUW9
    • E9PCM7
    • F5H4I8
    • Q12924
    • Q13800
    • Q2KJ05
    • Q5T968
    • Q5VZ84
    • Q8NB68

    Protein attributes for ZEB1 Gene

    Size:
    1124 amino acids
    Molecular mass:
    124074 Da
    Quaternary structure:
    • Interacts (via N-terminus) with SMARCA4/BRG1.
    SequenceCaution:
    • Sequence=BAG62481.1; Type=Frameshift; Positions=177; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZEB1 Gene

    Alternative splice isoforms for ZEB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZEB1 Gene

Post-translational modifications for ZEB1 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5195
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ZEB1

No data available for DME Specific Peptides for ZEB1 Gene

Domains & Families for ZEB1 Gene

Gene Families for ZEB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

P37275

UniProtKB/Swiss-Prot:

ZEB1_HUMAN :
  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
Family:
  • Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
genes like me logo Genes that share domains with ZEB1: view

Function for ZEB1 Gene

Molecular function for ZEB1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5-CANNTG-3). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.

Phenotypes From GWAS Catalog for ZEB1 Gene

Gene Ontology (GO) - Molecular Function for ZEB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA,IEA 23765923
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with ZEB1: view
genes like me logo Genes that share phenotypes with ZEB1: view

Human Phenotype Ontology for ZEB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZEB1 Gene

MGI Knock Outs for ZEB1:

Animal Model Products

Transcription Factor Targets for ZEB1 Gene

Selected GeneGlobe predicted Target genes for ZEB1

Clone Products

  • Addgene plasmids for ZEB1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ZEB1 Gene

Localization for ZEB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZEB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZEB1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZEB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20418909
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ZEB1: view

Pathways & Interactions for ZEB1 Gene

genes like me logo Genes that share pathways with ZEB1: view

SIGNOR curated interactions for ZEB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ZEB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 23765923
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS 8138542
GO:0006955 immune response TAS 1840704
genes like me logo Genes that share ontologies with ZEB1: view

Drugs & Compounds for ZEB1 Gene

(2) Drugs for ZEB1 Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2430
genes like me logo Genes that share compounds with ZEB1: view

Transcripts for ZEB1 Gene

Unigene Clusters for ZEB1 Gene

Zinc finger E-box binding homeobox 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for ZEB1

Alternative Splicing Database (ASD) splice patterns (SP) for ZEB1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - -
SP6:

Relevant External Links for ZEB1 Gene

GeneLoc Exon Structure for
ZEB1
ECgene alternative splicing isoforms for
ZEB1

Expression for ZEB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZEB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZEB1 Gene

This gene is overexpressed in Rectum (32.4), Fetal gut (10.1), Fetal Brain (9.1), Liver (8.9), and Uterus (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZEB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ZEB1 Gene:

ZEB1

SOURCE GeneReport for Unigene cluster for ZEB1 Gene:

Hs.124503

mRNA Expression by UniProt/SwissProt for ZEB1 Gene:

P37275-ZEB1_HUMAN
Tissue specificity: Colocalizes with SMARCA4/BRG1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas.

Evidence on tissue expression from TISSUES for ZEB1 Gene

  • Gall bladder(5)
  • Nervous system(4.9)
  • Lung(3)
  • Muscle(2.7)
  • Intestine(2.5)
  • Heart(2.4)
  • Kidney(2.4)
  • Lymph node(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZEB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Abdomen:
  • abdominal wall
  • intestine
General:
  • blood vessel
genes like me logo Genes that share expression patterns with ZEB1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ZEB1 Gene

Orthologs for ZEB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZEB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZEB1 34 33
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZEB1 34 33
  • 93.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZEB1 34 33
  • 87.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zeb1 16 34 33
  • 85.94 (n)
oppossum
(Monodelphis domestica)
Mammalia ZEB1 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zeb1 33
  • 84.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZEB1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZEB1 34 33
  • 83.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZEB1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zeb1 33
  • 75.25 (n)
zebrafish
(Danio rerio)
Actinopterygii zeb1b 34 33
  • 64.55 (n)
OneToMany
zeb1a 34
  • 40 (a)
OneToMany
zfhx1 33
worm
(Caenorhabditis elegans)
Secernentea F58G1.2 34
  • 17 (a)
ManyToMany
tra-4 34
  • 14 (a)
ManyToMany
Species where no ortholog for ZEB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZEB1 Gene

ENSEMBL:
Gene Tree for ZEB1 (if available)
TreeFam:
Gene Tree for ZEB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZEB1: view image

Paralogs for ZEB1 Gene

Paralogs for ZEB1 Gene

(29) SIMAP similar genes for ZEB1 Gene using alignment to 11 proteins:

  • ZEB1_HUMAN
  • A0JLS9_HUMAN
  • F6TDF5_HUMAN
  • F6U0D0_HUMAN
  • H0YMD3_HUMAN
  • H0YMN2_HUMAN
  • H0YN12_HUMAN
  • H0YND9_HUMAN
  • L0R5E9_HUMAN
  • L8EAF3_HUMAN
  • Q32Q63_HUMAN
genes like me logo Genes that share paralogs with ZEB1: view

Variants for ZEB1 Gene

Sequence variations from dbSNP and Humsavar for ZEB1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1057518956 pathogenic, Glaucoma, Polymorphous posterior corneal dystrophy, Visual loss 31,520,308(+) C/T coding_sequence_variant, stop_gained
rs118020901 pathogenic, Corneal dystrophy, Fuchs endothelial, 6, Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] 31,521,854(+) A/C/G coding_sequence_variant, missense_variant
rs199944415 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] 31,521,764(+) A/C/G coding_sequence_variant, missense_variant
rs567252241 Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270] 31,521,422(+) A/G coding_sequence_variant, missense_variant
rs766305306 pathogenic, Corneal dystrophy 31,520,905(+) GGGGGGG/GGGGGGGG coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ZEB1 Gene

Variant ID Type Subtype PubMed ID
dgv701n100 CNV loss 25217958
esv3891780 CNV gain 25118596
esv3891781 CNV loss 25118596
nsv550382 CNV loss 21841781
nsv831824 CNV loss 17160897
nsv831826 CNV loss 17160897
nsv947816 CNV duplication 23825009
nsv947817 CNV duplication 23825009

Variation tolerance for ZEB1 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZEB1 Gene

Human Gene Mutation Database (HGMD)
ZEB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZEB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZEB1 Gene

Disorders for ZEB1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ZEB1 Gene - From: LncRNADisease, HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ZEB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZEB1_HUMAN
  • Corneal dystrophy, posterior polymorphous, 3 (PPCD3) [MIM:609141]: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. {ECO:0000269 PubMed:16252232, ECO:0000269 PubMed:23599324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269 PubMed:20036349, ECO:0000269 PubMed:23599324, ECO:0000269 PubMed:25190660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZEB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZEB1: view

No data available for Genatlas for ZEB1 Gene

Publications for ZEB1 Gene

  1. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. (PMID: 16252232) Krafchak CM … Richards JE (American journal of human genetics 2005) 2 3 4 22 58
  2. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. (PMID: 20036349) Riazuddin SA … Katsanis N (American journal of human genetics 2010) 3 4 22 58
  3. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (PMID: 18172091) Mehta JS … Aung T (Investigative ophthalmology & visual science 2008) 3 22 44 58
  4. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. (PMID: 17935237) Aldave AJ … Richards JE (American journal of medical genetics. Part A 2007) 3 22 44 58
  5. The TCF8 gene encoding a zinc finger protein (Nil-2-a) resides on human chromosome 10p11.2. (PMID: 1427828) Williams TM … Shows TB (Genomics 1992) 2 3 22 58

Products for ZEB1 Gene

  • Addgene plasmids for ZEB1

Sources for ZEB1 Gene

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