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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRMT2B Gene

protein-coding   GIFtS: 46
GCID: GC0XM100264

tRNA methyltransferase 2 homolog B (S. cerevisiae)

(Previous name: chromosome X open reading frame 34 )
(Previous symbol: CXorf34)
 Explore 3 diseases affiliated with
TRMT2B via our new
 Human Malady Compendium 
Biological research products
for TRMT2B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TRNA Methyltransferase 2 Homolog B (S. Cerevisiae)1 2     Chromosome X Open Reading Frame 341
CXorf341 2 3     DJ341D10.31
TRM2 Homolog2 3     TRM2 TRNA Methyltransferase 2 Homolog B2
EC 2.1.1.353 8     TRNA (Uracil(54)-C(5))-Methyltransferase Homolog2
FLJ126871     TRNA (Uracil-5-)-Methyltransferase Homolog2

External Ids:    HGNC: 257481   Entrez Gene: 799792   Ensembl: ENSG000001889177   UniProtKB: Q96GJ13   

Export aliases for TRMT2B gene to outside databases

Previous GC identifers: GC0XM100150 GC0XM090068


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TRMT2B:
This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that
plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA
double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms.
(provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: TRM2_HUMAN, Q96GJ1
Function: Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine
at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity)




(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_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRMT2B gene promoter:
         HOXA9   HOXA9B   RFX1   Brachyury   Gfi-1   POU2F1   POU2F1a   HOXA5   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRMT2B promoter sequence
   Search SABiosciences Chromatin IP Primers for TRMT2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRMT2B


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

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22.1

TRMT2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRMT2B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM100264:  view genomic region     (about GC identifiers)

Start:
100,264,334 bp from pter      End:
100,307,105 bp from pter
Size:
42,772 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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: TRM2_HUMAN, Q96GJ1 (See protein sequence)
Recommended Name: tRNA (uracil(54)-C(5))-methyltransferase homolog  
Size: 504 amino acids; 56476 Da
Secondary accessions: A6NDG5 A6NEI9 A6NMG6 Q5JPF0 Q5JVY6 Q96HU7 Q96IH9 Q9H9K2
Alternative splicing: 3 isoforms:  Q96GJ1-1   Q96GJ1-2   Q96GJ1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TRMT2B: NX_Q96GJ1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96GJ1

  • 2 DME Specific Peptides for TRMT2B (Q96GJ1)
     EQAVEDA  TMTRCSH 

    TRMT2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001161442.1  NP_001161443.1  NP_001161444.1  NP_079193.2  

    ENSEMBL proteins: 
     ENSP00000437279   ENSP00000362030   ENSP00000362026   ENSP00000362027   ENSP00000340970  
     ENSP00000438134   ENSP00000362022  

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    Uscn Proteins for TRMT2B

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--


    TRMT2B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TRMT2B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR025714 Methyltranfer_dom
     IPR025823 tRNA_(uracil-5-)_MeTrfase_met

    Graphical View of Domain Structure for InterPro Entry Q96GJ1

    ProtoNet protein and cluster: Q96GJ1

    UniProtKB/Swiss-Prot: TRM2_HUMAN, Q96GJ1
    Similarity: Belongs to the methyltransferase superfamily. RNA M5U methyltransferase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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

    Function Summary:

         UniProtKB/Swiss-Prot: TRM2_HUMAN, Q96GJ1
    Function: Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine
    at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity)
    Catalytic activity: S-adenosyl-L-methionine + uridine(54) in tRNA = S-adenosyl-L-homocysteine + 5-methyluridine(54) in
    tRNA

    Enzyme Number (IUBMB): EC 2.1.1.351 2

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030697S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity IEA--


    TRMT2B for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TRMT2B:
     Decreased Wnt reporter activit 


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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 TRMT2B

    (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 Small Molecules at EMD Millipore
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    Browse Tocris compounds for TRMT2B

    1 HMDB Compound for TRMT2B    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ribothymidine1-b-D-Ribofuranosylthymine (see all 17)1463-10-1--
    Search CenterWatch for drugs/clinical trials and news about TRMT2B / TRM2 

    (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,
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    About This Section

    REFSEQ mRNAs for TRMT2B gene (4 alternative transcripts): 
    NM_001167970.1  NM_001167971.1  NM_001167972.1  NM_024917.5  

    Unigene Cluster for TRMT2B:

    TRNA methyltransferase 2 homolog B (S. cerevisiae)
    Hs.496501  [show with all ESTs]
    Unigene Representative Sequence: NM_024917
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490509 ENST00000372939 ENST00000372935 ENST00000372936 ENST00000478422
    ENST00000488615 ENST00000338687(uc004egr.3 uc004egv.3) ENST00000545398(uc004egt.3 uc004egq.3 uc004egs.3 uc004egu.3)
    ENST00000372931

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    Additional cDNA sequence: 

    AK022749.1 AK315780.1 AL832849.1 BC008067.2 BC009437.1 BC020116.1 BC034272.2 BX647969.1 

    16 DOTS entries:

    DT.95126701  DT.101984366  DT.70104983  DT.91765842  DT.121281428  DT.91765841  DT.95310537  DT.95126689 
    DT.100027702  DT.100789397  DT.100789400  DT.121281433  DT.91765849  DT.95362513  DT.92349294  DT.95144903 

    24/130 AceView cDNA sequences (see all 130):

    BG473171 BQ919445 BQ063167 BE734445 BQ055470 AL556799 BE409102 W39709 
    BQ952071 BQ643429 BG481630 BQ059395 BG390275 CR605503 BQ423218 BQ052955 
    BE258334 BQ429000 BE253147 BI333489 BX091538 BQ066438 BC007526 AI765573 

    GeneLoc Exon Structure

    5/24 Alternative Splicing Database (ASD) splice patterns (SP) for TRMT2B (see all 24)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^
    SP1:                                      -     -     -     -     -                                                                                             
    SP2:                                      -                                                                                                                     
    SP3:                                      -           -     -     -                                                                                             
    SP4:                                      -           -     -     -     -     -     -                 -     -                                                   
    SP5:                                            -     -     -     -                                                                                             

    ExUns: 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                                                        
    SP2:                                                        -               
    SP3:                                                        -               
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for TRMT2B

    (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

    TRMT2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGTGAATAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TRMT2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRMT2B

    SOURCE GeneReport for Unigene cluster: Hs.496501
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    In Situ
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    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for TRMT2B gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trmt2b1 , 5 TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae)5
    TRM2 tRNA methyltransferase 2B1
    82.35(n)1
    76.27(a)1
      X (55.95 cM)5
    2152011  NM_001167994.11  NP_001161466.11 
     1342223395 
    chicken
    (Gallus gallus)
    Aves LOC1008589091 tRNA (uracil-5-)-methyltransferase homolog 67.7(n)
    65.08(a)
      100858909  XM_003643319.1  XP_003643367.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trmt2b1 TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) 58.5(n)
    55.73(a)
      606657  NM_001122943.1  NP_001116415.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38086
    --
    26(a)
    possible ortholog
    3L(18990975-18993708)
    worm
    (Caenorhabditis elegans)
    Secernentea H24K24.46
    Protein H24K24.4
    23(a)
    1 → many
    V(904951-911605)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G284506
    AT3G213006
    RNA methyltransferase family protein
    20(a)
    18(a)
    many → 1
    possible ortholog
    2(12162051-12166039)
    3(7493439-7496289)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    zinc finger C-x8-C-x5-C-x3-H type family protein, ...
    RNA methyltransferase protein, putative, expressed...
    19(a)
    18(a)
    many → 1
    possible ortholog
    4(320281-328266)
    1(5020088-5024720)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria rlmD6
    trmA6
    (see all 3)
    tRNA m(5)U54 methyltransferase, SAM-dependen
    (see all 3)
    19(a)
    17(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    Chromosome(897741-898868)
    Chromosome(4160193-4161293)


    ENSEMBL Gene Tree for TRMT2B (if available)
    TreeFam Gene Tree for TRMT2B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRMT2B gene
    TRMT2A2  
    2 SIMAP similar genes for TRMT2B using alignment to 2 protein entries:     TRM2_HUMAN (see all proteins):
    TUBA1C    TRMT2A

    TRMT2B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TRMT2B
    PGOHUM00000245120


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/550 NCBI SNPs in TRMT2B are shown (see all 550    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379371931,2
    --100263933(+) TCTGTC/GTTCTG 4 -- ds50010--------
    rs1425038261,2
    --100263950(+) GCCCAC/TCCTGG 4 -- ds50010--------
    rs20140061,2
    --100264595(-) ctgaaA/Tttgtg 4 -- ut313Minor allele frequency- T:0.00NA EA 252
    rs1459365441,2
    --100264714(+) CATTCA/GAGATG 4 -- ut310--------
    rs107115061,2
    C,--100264767(+) GATCA-/CTCAGT 4 -- ut310--------
    rs66209771,2
    C--100264922(+) CAATGT/GAAAAT 4 -- ut311Minor allele frequency- G:0.00NA 2
    rs1872600161,2
    --100264955(+) GTCATG/TTGTCC 4 -- ut310--------
    rs1486205791,2
    --100265081(+) CATGAC/TTGAAA 4 -- ut310--------
    rs1922374711,2
    --100265161(+) TTTGAA/GAGGCC 4 -- ut310--------
    rs1839097991,2
    --100265167(+) AGGCCA/GAGGCG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for TRMT2B (100264334 - 100307105 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TRMT2B
         1 CNV: 52901
    Locus Specific Mutation Databases (LSDB): TRMT2B

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    (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

    TRMT2B for disorders           About GeneDecksing

    3 diseases for TRMT2B:    About MalaCards
    homocysteine    pneumonia    malaria


    Export disorders for TRMT2B 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)
    About This Section

    PubMed articles for TRMT2B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TRMT2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
    2. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    6. 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. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 79979 HGNC: 25748 AceView: CXorf34 Ensembl:ENSG00000188917 euGenes: HUgn79979
    ECgene: TRMT2B H-InvDB: TRMT2B

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TRMT2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TRMT2B gene:
    Search GeneIP for patents involving TRMT2B

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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