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KRT38 Gene

protein-coding   GIFtS: 50
GCID: GC17M039592

Keratin 38

(Previous names: keratin, hair, acidic, 8)
(Previous symbol: KRTHA8)
  See related diseases
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
Keratin 381 2     hHa82
KRTHA81 2 3 5     Keratin, Type I Cuticular Ha82
Keratin, Hair, Acidic, 81 2     keratin-382
Hair Keratin, Type I Ha82 3     HHA83
K382 3     HKA83
HA82 5     Keratin-383

External Ids:    HGNC: 64561   Entrez Gene: 86872   Ensembl: ENSG000001713607   OMIM: 6045425   UniProtKB: O760153   

Export aliases for KRT38 gene to outside databases

Previous GC identifers: GC17M036847 GC17M035356


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KRT38 Gene:
The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic
protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are
clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. (provided by RefSeq,
Jul 2008)

GeneCards Summary for KRT38 Gene:
KRT38 (keratin 38) is a protein-coding gene. Diseases associated with KRT38 include nodular basal cell carcinoma, and ectropion. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT34.




(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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT38 gene promoter:
         SRF   Bach2   SRF (504 AA)   CUTL1   AP-4   Nkx2-5   Evi-1   RORalpha2   c-Myb   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT38 promoter sequence
   Search Chromatin IP Primers for KRT38

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT38


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

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

KRT38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT38 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039592:  view genomic region     (about GC identifiers)

Start:
39,592,621 bp from pter      End:
39,597,596 bp from pter
Size:
4,976 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KRT38_HUMAN, O76015 (See protein sequence)
Recommended Name: Keratin, type I cuticular Ha8  
Size: 456 amino acids; 50480 Da
Miscellaneous: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)
Secondary accessions: A2RRM5 Q6A164

Explore the universe of human proteins at neXtProt for KRT38: NX_O76015

Explore proteomics data for KRT38 at MOPED


See KRT38 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006762.3  
ENSEMBL proteins: 
 ENSP00000246646  

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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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HGNC Gene Families:
IFF1: Intermediate filaments type I, keratins (acidic)

3 InterPro protein domains:
 IPR018039 Intermediate_filament_CS
 IPR001664 IF
 IPR002957 Keratin_I

Graphical View of Domain Structure for InterPro Entry O76015

ProtoNet protein and cluster: O76015

2 Blocks protein domains:
IPB001664 Intermediate filament protein
IPB002957 Type I keratin signature


UniProtKB/Swiss-Prot: KRT38_HUMAN, O76015
Similarity: Belongs to the intermediate filament family


KRT38 for domains           About GeneDecksing


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
     
KRT38 for ontologies           About GeneDecksing


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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 COMPARTMENTS: 

CompartmentConfidence
cytoskeleton3
cytosol3
golgi apparatus2
endoplasmic reticulum1
mitochondrion1
nucleus1
peroxisome1
plasma membrane1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005882intermediate filament IEA--

KRT38 for ontologies           About GeneDecksing


(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 KRT38
Interactions:

    Search GeneGlobe Interaction Network for KRT38

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for KRT38 (O760153 ENSP000002466464) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
PRKAB1Q9Y4783I2D: score=1 
About this table

(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 KRT38



(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KRT38 gene: 
NM_006771.3  

Unigene Cluster for KRT38:

Keratin 38
Hs.248188  [show with all ESTs]
Unigene Representative Sequence: NM_006771
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000246646(uc002hwq.1)
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Additional mRNA sequence: 

AJ786656.1 BC131715.1 

1 DOTS entry:

DT.95301959 

2 AceView cDNA sequences:

NM_006771 AJ786656 

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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KRT38 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCTGGAGACC
KRT38 Expression
About this image

KRT38 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KRT38 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.248188
    Custom PCR Arrays for KRT38
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT38

(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 chordates.

Orthologs for KRT38 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia KRT381 keratin 38 83.6(n)
76.08(a)
  490987  XM_548110.3  XP_548110.2 
lizard
(Anolis carolinensis)
Reptilia --
--
Keratin aHA1; Uncharacterized protein
45(a)
40(a)
many ↔ many
many ↔ many
6(70606275-70614367)
6(70591466-70598937)
zebrafish
(Danio rerio)
Actinopterygii wu:fb17f056
zgc:920616
(see all 14)
zgc:92061
(see all 14)
39(a)
38(a)
(see all 14)
many ↔ many
many ↔ many
(see all 14)
22(11885419-11889710) ENSDARG00000095147
22(11866190-11869256) ENSDARG00000000212


ENSEMBL Gene Tree for KRT38 (if available)
TreeFam Gene Tree for KRT38 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KRT38 gene
KRT342  KRT172  KRT162  KRT312  KRT252  KRT392  KRT402  KRT202  
KRT372  KRT272  KRT322  KRT362  KRT192  KRT282  KRT142  KRT132  
KRT262  KRT102  KRT122  KRT352  KRT152  KRT242  KRT92  KRT33B2  
KRT33A2  
Selected SIMAP similar genes for KRT38 using alignment to 1 protein entry:     KRT38_HUMAN(see all similar genes):
KRT37    KRTHA7    KRT33B    KRT33A    KRT34    KRT31
KRT15    KRT19    JUP    KRT14    KRT16    KRT20
KRT35    keratin    KRT13    KRT10    KRT17    KRT18

KRT38 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for KRT38
PGOHUM00000237073


(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 KRT38 (see all 268)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1488706151,2
Cuntested140384649(+) GATGGA/C/GAGAGA 2 P S mis10--------
rs711551401,2
C--39594935(-) GGGGG-/GTATAG 1 -- int12Minor allele frequency- G:0.25NA CSA 4
rs1999221811,2
--39594939(+) ACCCCC/TCCCAC 1 -- int10--------
rs14555291,2
C,F,A,H--40379681(-) CCACCT/CGTGAC 1 -- ds500113Minor allele frequency- C:0.22NA WA CSA EA 381
rs80688811,2
C,F,A,H--40379686(+) GGGTGA/GCCCTT 1 -- ds500112Minor allele frequency- G:0.23NA WA CSA EA 377
rs1867011021,2
--40379765(+) GGTTTC/TCTTGT 1 -- ds50010--------
rs1506566941,2
--40379911(+) TGATGA/GTTCAA 1 -- ds50010--------
rs72177331,2
C,F,H--40379916(+) attcaA/Gaaacc 1 -- ds50015Minor allele frequency- G:0.01NS EA WA 412
rs1910855601,2
--40380038(+) ATGAAC/TAATTG 1 -- ds50010--------
rs1837478811,2
--40380043(+) CAATTG/TTTAAT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for KRT38 (39592621 - 39597596 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for KRT38:    About this table    
Variant IDTypeSubtypePubMed ID
esv2715932CNV Deletion23290073
nsv483014CNV Loss15286789
dgv962e1CNV Complex17122850
dgv961e1CNV Complex17122850

Human Gene Mutation Database (HGMD): KRT38
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing KRT38
DNA2.0 Custom Variant and Variant Library Synthesis for KRT38

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604542    OMIM disorders: --

4 diseases for KRT38:    About MalaCards
nodular basal cell carcinoma    ectropion    basal cell carcinoma    inflammatory bowel disease

2 diseases from the University of Copenhagen DISEASES database for KRT38:
Nodular basal cell carcinoma     Ectropion

KRT38 for disorders           About GeneDecksing

Genetic Association Database (GAD): KRT38
Human Genome Epidemiology (HuGE) Navigator: KRT38 (1 document)

Export disorders for KRT38 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 KRT38 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KRT38)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a 190-kilobase pair domain of human type I hair keratin genes. (PubMed id 9756910)1, 2, 3 Rogers M.A.... Schweizer J. (J. Biol. Chem. 1998)
  2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
  3. Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease. (PubMed id 15248378)1, 4 BA1ning C....Witt H. (Dig Liver Dis 2004)
  4. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. (PubMed id 15617563)1, 2 Rogers M.A.... Schweizer J. (Differentiation 2004)
  5. Charting the molecular network of the drug target Bcr-Abl. (PubMed id 19380743)1 Brehme M....Superti-Furga G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
  6. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
  7. 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)
  8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. (PubMed id 10391933)1 Langbein L....Schweizer J. (J. Biol. Chem. 1999)
  10. Human hair keratins. (PubMed id 7686952)1 Yu J....Bertolino A.P. (J. Invest. Dermatol. 1993)

(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: 8687 HGNC: 6456 AceView: KRTHA8 Ensembl:ENSG00000171360 euGenes: HUgn8687
ECgene: KRT38 H-InvDB: KRT38

(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 KRT38 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 KRT38 gene:
Search GeneIP for patents involving KRT38

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 Tissue Slides
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 Browse ESI BIO Cell Lines and PureStem Progenitors for KRT38
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT38
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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