TMTC2 Gene
protein-coding GIFtS : 47
GCID: GC12 P083080
transmembrane and tetratricopeptide repeat containing 2
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Aliasesfor TMTC2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Transmembrane And Tetratricopeptide Repeat Containing 2 1 2 DKFZp762A2171 IBDBP12 IBDBP1 Transcript 22 IBDBP1, Transcript 12 Transmembrane And TPR Repeat-Containing Protein 22
Export aliases for TMTC2 gene to outside databases Previous GC identifers: GC12P081584 GC12P080139
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Summariesfor TMTC2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Gene Wiki entry for TMTC2
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Genomic Viewsfor TMTC2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000012.11 NC_018923.1 NT_029419.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TMTC2 gene promoter: Max1 POU3F1 MyoD HNF-3beta S8 NF-kappaB2 TGIF NF-kappaB1 Hlf c-Myc Other transcription factors Search SABiosciences Chromatin IP Primers for TMTC2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMTC2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12q21.31 Ensembl cytogenetic band: 12q21.31 HGNC cytogenetic band: 12q21.31 TMTC2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P083080: view genomic region
(about GC identifiers )
Start:
83,080,659 bp from pter
End:
83,528,649 bp from pter
Size:
447,991 bases
Orientation:
plus strand
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Proteinsfor TMTC2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: TMTC2_HUMAN, Q8N394 (See
protein sequence )Recommended Name: Transmembrane and TPR repeat-containing protein 2 Size : 836 amino acids; 94130 Da
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Sequence caution : Sequence=BAC11102.1; Type=Erroneous initiation;
Secondary accessions : B2RCU7 Q8N2K8Explore the universe of human proteins at neXtProt for TMTC2: NX_Q8N394 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8N394 TMTC2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_689801.1 ENSEMBL proteins: ENSP00000322300 ENSP00000448292 ENSP00000447609 ENSP00000448630 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005783 endoplasmic reticulum
IDA -- GO:0016021 integral to membrane
IEA --
TMTC2 for ontologies About GeneDecksing TMTC2 Antibody Products: Assay Products for TMTC2:
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Protein
Domains / Familiesfor TMTC2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TMTC2 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q8N394 ProtoNet protein and cluster: Q8N394
UniProtKB/Swiss-Prot: TMTC2_HUMAN, Q8N394 Similarity : Belongs to the TMTC familySimilarity : Contains 10 TPR repeats
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Functionfor TMTC2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMTC2 (NM_152588 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMTC2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMTC2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMTC2
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Pathways & Interactionsfor TMTC2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMTC2 1 Interacting protein for TMTC2 (Q8N394 3 ) via UniProtKB, MINT, STRING, and/or I2D About this table
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Drugs & Compoundsfor TMTC2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for TMTC2 Search CenterWatch for drugs/clinical trials and news about TMTC2
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Transcriptsfor TMTC2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
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SwitchGear Genomics ,
GenScript ,
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Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for TMTC2 gene: NM_152588.1 Unigene Cluster for TMTC2:
Transmembrane and tetratricopeptide repeat containing 2 Hs.577775 [show with all ESTs ] Unigene Representative Sequence: AL834509 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000551915 (uc001szs.1 ) ENST00000321196 (uc001szt.3 uc010suk.2 )ENST00000548305 (uc001szr.1 ) ENST00000549919 ENST00000546590 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMTC2 (NM_152588 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMTC2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMTC2
Additional cDNA sequence: AK074634.1 AK299771.1 AK315285.1 AL834509.1 BC047464.1 BC071614.1 BC093852.1 BC093854.1 BC098572.1 BC143378.1
9 DOTS entries : DT.111236 DT.439058
DT.91758558 DT.121175842 DT.121175919 DT.121175929 DT.75149634 DT.95256094 DT.97806648 24/45 AceView cDNA sequences (see all 45 ):
NM_152588 AL834509 AX795392 AI350781 AW474234 BU735946 AX795396 AI537287 BM697269 CA424966 AI886513 AK074634 BC071614 AI765006 BF002762 BP357360 BX508970 CO246142 AV726517 AI262660 BC047464 N51813 BX641525 AX795394 GeneLoc Exon Structure
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Expression for TMTC2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section TMTC2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ATCAAAAAAT
About this image TMTC2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See TMTC2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TMTC2 SOURCE GeneReport for Unigene cluster: Hs.577775 SABiosciences Custom PCR Arrays for TMTC2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMTC2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TMTC2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMTC2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMTC2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMTC2
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Orthologsfor TMTC2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for TMTC2 gene from 5/21 species (see all 21 ) About this table
ENSEMBL Gene Tree for TMTC2 (if available)TreeFam Gene Tree for TMTC2 (if available)
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Paralogsfor TMTC2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TMTC2 gene TMTC3 2 OGT 2 TMTC1 2 TMTC4 2 3 SIMAP similar genes for TMTC2 using alignment to 3 protein entries: TMTC2_HUMAN (see all proteins ):TMTC1 TMTC3 TMTC4
TMTC2 for paralogs About GeneDecksing
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Genomic Variantsfor TMTC2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 12 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TMTC2 (83080659 - 83330659 bp, first 250kb of TMTC2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 12 variations for TMTC2 10 CNVs : 3896 86496 10403 71536 1265 86495 23298 49148 2994 38267 2 Indels : 60102 41669
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMTC2
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Disorders
/ Diseasesfor TMTC2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
TMTC2 for disorders About GeneDecksing 2 diseases for TMTC2 : About MalaCards glaucoma hypoxia 1 disease from the University of Copenhagen DISEASES database for TMTC2 :Primary open angle glaucoma Human Genome Epidemiology (HuGE) Navigator: TMTC2 (4 documents) Export disorders for TMTC2 gene to outside databases
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Publicationsfor TMTC2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for TMTC2 gene, integrated from 9 sources (see all 17 ): (articles sorted by number of sources associating them with TMTC2) Utopia : connect your pdf to the dynamic world of online information
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177) 1 Tao S....Sun J. (2012) Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470) 1 Ovsyannikova I.G....Poland G.A. (2012) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. (PubMed id 20662065) 1 Clancy R.M....Buyon J.P. (2010) Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461) 1 Bennett E.J....Harper J.W. (2010) Three susceptible loci associated with primary open-a ngle glaucoma identified by genome-wide association study in a Japanese populat ion. (PubMed id 19625618) 1 Nakano M....Tashiro K. (2009) Genome-wide association of hypoxia-inducible factor ( HIF)-1alpha and HIF-2alpha DNA binding with expression profiling of hypoxia-ind ucible transcripts. (PubMed id 19386601) 1 Mole D.R....Ratcliffe P.J. (2009) Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826) 1 Uhl G.R....Lerman C. (2008)
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External Searches for TMTC2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TMTC2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing TMTC2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing TMTC2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for TMTC2 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for TMTC2 gene: Search GeneIP for patents involving TMTC2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TMTC2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for TMTC2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TMTC2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMTC2 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TMTC2 OriGene 3'-UTR Clone for TMTC2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMTC2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TMTC2 OriGene Custom Protein Services for TMTC2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMTC2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMTC2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMTC2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TMTC2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMTC2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMTC2
Search Tocris compounds for TMTC2
TMTC2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMTC2
ThermoFisher Antibody for TMTC2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMTC2
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