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TMCO5A Gene

protein-coding   GIFtS: 38
GCID: GC15P038227

Transmembrane And Coiled-Coil Domains 5A

(Previous name: transmembrane and coiled-coil domains 5)
(Previous symbol: TMCO5)
  Search for TMCO5A
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane And Coiled-Coil Domains 5A1 2
TMCO51 2 3
Transmembrane And Coiled-Coil Domains 51 2
Transmembrane And Coiled-Coil Domain-Containing Protein 5A2

External Ids:    HGNC: 285581   Entrez Gene: 1459422   Ensembl: ENSG000001660697   UniProtKB: Q8N6Q13   

Export aliases for TMCO5A gene to outside databases

Previous GC identifers: GC15P036016 GC15P015072


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMCO5A Gene:
TMCO5A (transmembrane and coiled-coil domains 5A) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMCO5A gene promoter:
         HOXA3   Pax-6   MyoD   POU3F2 (N-Oct-5a)   CUTL1   RelA   POU3F2   C/EBPalpha   AREB6   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMCO5A promoter sequence
   Search Chromatin IP Primers for TMCO5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMCO5A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14

TMCO5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMCO5A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P038227:  view genomic region     (about GC identifiers)

Start:
38,214,140 bp from pter      End:
38,259,925 bp from pter
Size:
45,786 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1 (See protein sequence)
Recommended Name: Transmembrane and coiled-coil domain-containing protein 5A  
Size: 288 amino acids; 34174 Da
Secondary accessions: Q8NA63
Alternative splicing: 2 isoforms:  Q8N6Q1-1   Q8N6Q1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMCO5A: NX_Q8N6Q1

Explore proteomics data for TMCO5A at MOPED


See TMCO5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689666.2  
ENSEMBL proteins: 
 ENSP00000453162   ENSP00000453271   ENSP00000454112   ENSP00000453369   ENSP00000453047  
 ENSP00000453561   ENSP00000327234   ENSP00000445914  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR026617 SMCO2/5

Graphical View of Domain Structure for InterPro Entry Q8N6Q1

ProtoNet protein and cluster: Q8N6Q1

UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1
Similarity: Belongs to the TMCO5 family


Find genes that share domains with TMCO5A           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     3 GenomeRNAi human phenotypes for TMCO5A:
 Decreased viability with pacli  Increased cell number in S and  Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMCO5A
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TMC5A_HUMAN, Q8N6Q1: Membrane; Single-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with TMCO5A           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMCO5A
Interactions:

    Search GeneGlobe Interaction Network for TMCO5A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TMCO5A (TMC5A)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TMCO5A gene: 
NM_152453.2  

Unigene Cluster for TMCO5A:

Transmembrane and coiled-coil domains 5A
Hs.179646  [show with all ESTs]
Unigene Representative Sequence: AK093126
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000560841 ENST00000558625 ENST00000559502(uc001zjv.1) ENST00000558148
ENST00000558158 ENST00000560653 ENST00000559813(uc010bbc.1) ENST00000319669(uc001zjw.3)
ENST00000540944
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Additional mRNA sequence: 

AK093126.1 AK310517.1 BC029221.2 

3 DOTS entries:

DT.202687  DT.100017918  DT.102821379 

24 AceView cDNA sequences:

BP369168 NM_152453 BC029221 BI826726 AK093126 BX089029 BP371418 CD637841 
BM563908 BI461956 AX747940 AW515763 AW118161 AA610065 BG772013 AA778603 
BG720715 BI561792 CD637836 BI832004 CD694802 CD637838 AI218668 CD637839 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TMCO5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAACTTGTGG
TMCO5A Expression
About this image


TMCO5A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Testis (Reproductive System)
         Mature Sertoli Cells Seminiferous Tubules
TMCO5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMCO5A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.179646
    Custom PCR Arrays for TMCO5A
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMCO5A

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for TMCO5A gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmco51 , 5 transmembrane and coiled-coil domains 51, 5 77.66(n)1
71.18(a)1
  2 (59.03 cM)5
673561  NM_026104.41  NP_080380.11 
 1168786915 


ENSEMBL Gene Tree for TMCO5A (if available)
TreeFam Gene Tree for TMCO5A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMCO5A gene
1 SIMAP similar gene for TMCO5A using alignment to 7 protein entries:     TMC5A_HUMAN (see all proteins):
TMCO5B

Find genes that share paralogs with TMCO5A           About GenesLikeMe


1 Pseudogenes.org Pseudogene for TMCO5A
PGOHUM00000257972


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TMCO5A (see all 481)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1864343621,2
--38225484(+) GTTTTA/CATGCC 1 -- us2k10--------
rs1434168811,2
--38225540(+) CACAAC/TTGGAG 1 -- us2k10--------
rs1165536601,2
C,F--38225619(+) CGCTTC/TTTCTG 1 -- us2k11Minor allele frequency- T:0.07WA 118
rs1462704201,2
--38225625(+) TTCTGC/TGCCAC 1 -- us2k10--------
rs1394621571,2
--38225869(+) GAAAAG/TGTTTA 1 -- us2k10--------
rs1441529501,2
--38226060(+) ACAGAA/CTCCAG 1 -- us2k10--------
rs29379811,2
C,F,A,H--38226280(+) ttattG/Ttattg 1 -- us2k1 tfbs310Minor allele frequency- T:0.29NA WA EA 372
rs1469955411,2
C--38226318(+) CGCGC-/GT/TG 
        
GCGCG
1 -- us2k10--------
rs559387701,2
C--38226319(+) GCGCG-/CA/T  
  G
/TGCG
CGCGC
1 -- us2k10--------
rs71623431,2
C--38226320(+) gcgcgT/Cgcgcg 1 -- us2k12Minor allele frequency- C:0.00NA 4

HapMap Linkage Disequilibrium report for TMCO5A (38214140 - 38259925 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for TMCO5A: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TMCO5A
DNA2.0 Custom Variant and Variant Library Synthesis for TMCO5A

(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.)
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Find genes that share disorders with TMCO5A           About GenesLikeMe

Genetic Association Database (GAD): TMCO5A
Human Genome Epidemiology (HuGE) Navigator: TMCO5A (1 document)

Export disorders for TMCO5A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for TMCO5A gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMCO5A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)1, 4 Lanktree M.B....Anand S.S. ( a journal of cerebral circulation 2009)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles. (PubMed id 21577013)1 Bauerschlag D.O....Wagner W. (Oncology 2011)
  5. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)4 Ferreira M.A....Craddock N. (Nat. Genet. 2008)
  6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
  7. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 145942 HGNC: 28558 AceView: MGC35118 Ensembl:ENSG00000166069 euGenes: HUgn145942
ECgene: TMCO5A H-InvDB: TMCO5A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TMCO5A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TMCO5A gene:
Search GeneIP for patents involving TMCO5A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Biologicals
 Novus Tissue Slides
 Search for Antibodies for TMCO5A at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for TMCO5A
 Custom Antibody / Protein Production Service
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for TMCO5A
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMCO5A
 SwitchGear 3'UTR luciferase reporter plasmids for TMCO5A
 SwitchGear Promoter luciferase reporter plasmids for TMCO5A
 Search ThermoFisher Antibodies for TMCO5A
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMCO5A
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMCO5A
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMCO5A
 Search LSBio for Antibodies for TMCO5A
Customized transgenic rodents for:
 Humanization
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 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
 Search Addgene for plasmids for TMCO5A
  Search eBioscience for proteins for TMCO5A
  Search eBioscience for elisas for TMCO5A
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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