DSG4 Gene
protein-coding GIFtS: 52
GCID: GC18P028956
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desmoglein 4
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Aliases for DSG4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Desmoglein 41 2 | | CDGF132 | | CDHF131 2 3 | | CDH Family Member 132 | | LAH1 2 5 | | Desmoglein-41 | | Cadherin Family Member 132 3 | | |
Export aliases for DSG4 gene to outside databasesPrevious GC identifers: GC18P028776 GC18P027208 GC18P027210 GC18P025812 |
Summaries for DSG4 gene(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 DSG4: This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembranecomponent in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene areassociated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternatesplicing results in multiple transcript variants. (provided by RefSeq, Sep 2009) UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins andintermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiationin hair follicle keratinocytes (By similarity) Gene Wiki entry for DSG4
|
Genomic Views for DSG4 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_000018.9 NC_018929.1 NT_010966.14
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the DSG4 gene promoter: HFH-3 TBP AML1a POU6F1 (c2) Gfi-1 FOXI1 RORalpha1 aMEF-2 Other transcription factors
Search SABiosciences Chromatin IP Primers for DSG4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSG4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 18q12.1 Ensembl cytogenetic band: 18q12.1 HGNC cytogenetic band: 18q12.1DSG4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 18 GeneLoc Exon Structure GeneLoc location for GC18P028956: view genomic region
(about GC identifiers)
Start:
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28,956,740 bp from pter |
End:
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28,994,875 bp from pter |
Size:
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38,136 bases |
Orientation:
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plus strand |
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Proteins for DSG4 gene
(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: DSG4_HUMAN, Q86SJ6 (See
protein sequence)Recommended Name: Desmoglein-4 precursor Size: 1040 amino acids; 113824 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome (Bysimilarity)
Secondary accessions: A2RUI1 Q6Y9L9 Q8IXV4Alternative splicing: 2 isoforms: Q86SJ6-1 Q86SJ6-2 Explore the universe of human proteins at neXtProt for DSG4: NX_Q86SJ6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86SJ6 DSG4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001127925.1 NP_817123.1 ENSEMBL proteins: ENSP00000311859 ENSP00000352785 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
DSG4 for ontologies About GeneDecksing
DSG4 Antibody Products: Assay Products for DSG4: |
Protein
Domains / Families for DSG4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DSG4 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q86SJ6ProtoNet protein and cluster: Q86SJ6 3 Blocks protein families: IPB002126 Cadherin IPB009122 Desmosomal cadherin signature IPB009123 Desmoglein signature
UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections,imparting a strong curvature to the full-length ectodomain (By similarity)Similarity: Contains 4 cadherin domains |
Function for DSG4 gene
(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: DSG4_HUMAN, Q86SJ6Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins andintermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiationin hair follicle keratinocytes (By similarity)
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 DSG4 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSG4 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for DSG4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG4  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG4 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005509 | calcium ion binding |
IEA | -- |
DSG4 for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Dsg4):
DSG4 for phenotypes About GeneDecksing
|
Pathways & Interactions for DSG4 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 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 DSG4
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 4 Interacting proteins for DSG4 (Q86SJ63 ENSP000003527854) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
DSG4 for ontologies About GeneDecksing
|
Drugs & Compounds for DSG4 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 DSG4
1 HMDB Compound for DSG4 About this table Search CenterWatch for drugs/clinical trials and news about DSG4 
|
Transcripts for DSG4 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
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for DSG4 gene (2 alternative transcripts): NM_001134453.1 NM_177986.3 Unigene Cluster for DSG4: Desmoglein 4 Hs.407618 [show with all ESTs]Unigene Representative Sequence: NM_0011344532 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000308128(uc002kwq.2) ENST00000359747(uc002kwr.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSG4 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSG4 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): DSG4 (NM_177986) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DSG4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG4  |
Additional cDNA sequence: AY168788.1 AY177664.1 AY227350.1 AY228236.1 BC039098.1 BC132907.1 BC132909.1 1 DOTS entry: DT.100741566 6 AceView cDNA sequences: NM_177986 AY227350 AY177664 BC039098 BG723199 AY168788 GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for DSG4 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for DSG4
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Expression for DSG4 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
| DSG4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTTTCTGCCT
About this image See DSG4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for DSG4
SOURCE GeneReport for Unigene cluster: Hs.407618 UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6Tissue specificity: Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles, presentin the inner root sheath (IRS) and all layers of the matrix and precortex SABiosciences Expression via Pathway-Focused PCR Arrays including DSG4:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSG4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DSG4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSG4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSG4 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG4 |
Orthologs for DSG4 gene
(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 common ancestor of chordates.
Orthologs for DSG4 gene from 3/11 species (see all 11) About this table
ENSEMBL Gene Tree for DSG4 (if available) TreeFam Gene Tree for DSG4 (if available)  |
Paralogs for DSG4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for DSG4 gene
- CDH42 CDH182 CDH32 CDH102 CDH112 CDH12 CDH62 DSC22
- CDH82 CDH202 CDH222 DSC12 CDH192 DSG12 CDH72 DSG22
- CDH92 CDH122 CDH262 DSC32 CDH22 CDH242 CDH152 CDH52
- DSG32
6 SIMAP similar genes for DSG4 using alignment to 1 protein entry: DSG4_HUMAN:DSG3 DSG1 DSG2 CDH13 DSC1 DSC3
DSG4 for paralogs About GeneDecksing
|
Genomic Variants for DSG4 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 18 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for DSG4 (28956740 - 28994875 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for DSG4 2 CNVs: 34481 8856 Human Gene Mutation Database (HGMD): DSG4
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSG4 |
|
Disorders
/ Diseases for DSG4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DSG4 for disorders About GeneDecksing
OMIM gene information: 607892 OMIM disorders: 607903 UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6
Defects in DSG4 are the cause of hypotrichosis type 6 (HYPT6) [MIM:607903]. A condition characterized by thepresence of less than the normal amount of hair, involving mainly the scalp, chest, arms and legs. It is characterizedby abnormal hair follicles and shafts, which are thin and atrophic Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is apotentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion 10 diseases for DSG4: About MalaCardslocalized autosomal recessive hypotrichosis hypotrichosis pemphigus vulgaris pemphigus foliaceus pemphigus monilethrix ritter's disease impetigo skin disease prostatitis 3 diseases from the University of Copenhagen DISEASES database for DSG4:Monilethrix Hypotrichosis Impetigo 4 Novoseek disease relationships for DSG4 gene About this table
Export disorders for DSG4 gene to outside databases
|
Publications for DSG4 gene (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 DSG4 gene, integrated from 9 sources (see all 29): (articles sorted by number of sources associating them with DSG4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Genetic evidence for a novel human desmosomal cadherin, desmoglein 4. (PubMed id 12648213)1, 2, 3, 9 Whittock N.V. and Bower C. (2003)
- A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (PubMed id 15191570)1, 2 Rafiq M.A.... Ahmad W. (2004)
- 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)
- Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. (PubMed id 12705872)1, 2 Kljuic A....Christiano A.M. (2003)
- Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. (PubMed id 16533311)1, 9 Bazzi H....Christiano A.M. (2006)
- Desmoglein 4 is regulated by transcription factors im plicated in hair shaft differentiation. (PubMed id 19683850)1, 9 Bazzi H....Christiano A.M. (2009)
- [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris] (PubMed id 17294735)1, 9 Li W....Ran Y.P. (2007)
- Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (PubMed id 16439973)1, 9 Shimomura Y....Ito M. (2006)
- An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (PubMed id 16575393)1, 9 Zlotogorski A....Pras E. (2006)
- Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (PubMed id 16543896)1, 9 Schaffer J.V....Christiano A.M. (2006)
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External Searches for DSG4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing DSG4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DSG4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DSG4 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 DSG4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSG4 |
|
| | |
About This Section
| Patent Information for DSG4 gene: Search GeneIP for patents involving DSG4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for DSG4 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
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 | |
 | |
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