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

SPINK2 Gene

protein-coding   GIFtS: 49
GCID: GC04M057676

serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin...

(Previous names: serine protease inhibitor, Kazal type 2 (acrosin-trypsin...)
 Explore 3 diseases affiliated with
SPINK2 via our new
 Human Malady Compendium 
Biological research products
for SPINK2
    

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

Aliases
Serine Peptidase Inhibitor, Kazal Type 2 (Acrosin-Trypsin Inhibitor)1 2
HUSI-II1 2 3
Epididymis Tissue Protein Li 1722 3
Serine Protease Inhibitor, Kazal Type 2 (Acrosin-Trypsin Inhibitor)1
Serine Protease Inhibitor Kazal-Type 22
Acrosin-Trypsin Inhibitor3

External Ids:    HGNC: 112451   Entrez Gene: 66912   Ensembl: ENSG000001280407   OMIM: 6057535   UniProtKB: P201553   

Export aliases for SPINK2 gene to outside databases

Previous GC identifers: GC04M057479 GC04M057637 GC04M057591 GC04M057516 GC04M057370 GC04M053629


(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 SPINK2:
This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein
acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been
associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Nov 2012)

UniProtKB/Swiss-Prot: ISK2_HUMAN, P20155
Function: Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin

Gene Wiki entry for SPINK2


(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_000004.11  NC_018915.1  NT_022853.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINK2 gene promoter:
         NRSF form 1   Brachyury   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPINK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINK2


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

SPINK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M057676:  view genomic region     (about GC identifiers)

Start:
57,676,026 bp from pter      End:
57,687,908 bp from pter
Size:
11,883 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: ISK2_HUMAN, P20155 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 2 precursor  
Size: 84 amino acids; 9291 Da
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for SPINK2:
2JXD (3D)    
Secondary accessions: Q6FGH2

Explore the universe of human proteins at neXtProt for SPINK2: NX_P20155

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20155

  • SPINK2 Protein expression data from MOPED and PaxDb:    About this image 
    SPINK2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001258647.1  NP_001258648.1  NP_001258649.1  NP_001258650.1  NP_001258651.1  NP_066937.1  

    ENSEMBL proteins: 
     ENSP00000248701   ENSP00000425961   ENSP00000423858  

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    Uscn Proteins for SPINK2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    SPINK2 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

    SPINK2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002350 Prot_inh_Kazal

    Graphical View of Domain Structure for InterPro Entry P20155

    ProtoNet protein and cluster: P20155

    1 Blocks protein family: IPB001239 Kazal-type serine protease inhibitor signature

    UniProtKB/Swiss-Prot: ISK2_HUMAN, P20155
    Similarity: Contains 1 Kazal-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISK2_HUMAN, P20155
    Function: Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin

         Genatlas biochemistry entry for SPINK2:
    serine protease inhibitor,Kazal type 2 (acrosin-trypsin inhibitor)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS8428671
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
         
    SPINK2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPINK2:
     Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spink2):
     cellular  endocrine/exocrine gland  reproductive system 

    SPINK2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPINK2 

    miRNA
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    hsa-miR-7-1* hsa-miR-7-2*
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    In Situ Assay
    Products:
       

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPINK2


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPINK2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity TAS8428671

    SPINK2 for ontologies           About GeneDecksing



    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPINK2
    Search CenterWatch for drugs/clinical trials and news about SPINK2 / ISK2 

    (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, Sirion Biotech, 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 SPINK2 gene (6 alternative transcripts): 
    NM_001271718.1  NM_001271719.1  NM_001271720.1  NM_001271721.1  NM_001271722.1  NM_021114.3  

    Unigene Cluster for SPINK2:

    Serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
    Hs.98243  [show with all ESTs]
    Unigene Representative Sequence: BM563686
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509707 ENST00000248701(uc003hcg.1) ENST00000506738 ENST00000504762


    miRNA
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    hsa-miR-7-1* hsa-miR-7-2*
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    Additional cDNA sequence: 

    AK312222.1 BC022514.1 CR542135.1 GU727622.1 NR_073417.1 NR_073418.1 NR_073419.1 X57655.1 

    3 DOTS entries:

    DT.444486  DT.100780011  DT.92421817 

    24/73 AceView cDNA sequences (see all 73):

    AA973772 AA625888 BM314125 AW182819 CR542135 BC022514 AA779272 AW950531 
    BM313844 AA335752 CK905202 BG214688 AW072431 BG700147 BG193436 AA872176 
    BI520020 AA570635 BG193958 BI827169 AW082715 NM_021114 AA416641 X57655 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPINK2    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c
    SP1:                                                      
    SP2:              -     -                                 
    SP3:                    -                                 


    ECgene alternative splicing isoforms for SPINK2

    (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

    SPINK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTAGTGATG
    SPINK2 Expression
    About this image

    SPINK2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)Adipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SPINK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPINK2

    SOURCE GeneReport for Unigene cluster: Hs.98243

    UniProtKB/Swiss-Prot: ISK2_HUMAN, P20155
    Tissue specificity: Expressed in epididymis (at protein level)

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPINK2

    (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 SPINK2 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spink21 , 5 serine peptidase inhibitor, Kazal type 21, 5 66.25(n)1
    58.75(a)1
      5 (41.53 cM)5
    699821  NM_183284.21  NP_899107.11 
     772051075 
    chicken
    (Gallus gallus)
    Aves ISK1L_CHICK6
    Trypsin inhibitor ClTI-1
    41(a)
    1 ↔ 1
    4(50767022-50769233)
    lizard
    (Anolis carolinensis)
    Reptilia SPINK26
    --
    53(a)
    1 ↔ 1
    GL343257.1(1419937-1603080)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1588526
    CR381551.16
    (see all 4)
    --
    45(a)
    43(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    14(19055668-19056708)
    14(19497074-19497787)


    ENSEMBL Gene Tree for SPINK2 (if available)
    TreeFam Gene Tree for SPINK2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/378 NCBI SNPs in SPINK2 are shown (see all 378    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776166471,2
    C--57675552(+) ATTTTC/TGAGAC 9 -- ds50010--------
    rs793714441,2
    C--57675561(+) ACAGAC/G/TTCTCG 9 -- ds50010--------
    rs1496439841,2
    --57675620(+) ACCTCC/TGCCTC 9 -- ds50010--------
    rs1876132461,2
    --57675633(+) GGGTTC/TGAGCG 9 -- ds50010--------
    rs1444085081,2
    --57675634(+) GGTTCG/TAGCGA 9 -- ds50010--------
    rs1932140681,2
    --57675648(+) TCCTGC/TCTCAG 9 -- ds50010--------
    rs1483445521,2
    --57675660(+) CTCCCA/GAGTAG 9 -- ds50010--------
    rs1850753601,2
    --57675670(+) GCTGGA/GACTAC 9 -- ds50010--------
    rs1421914521,2
    --57675769(+) AGCTCA/GTGATA 9 -- ds50010--------
    rs1875108331,2
    --57675779(+) ACGCCC/TGCCTC 9 -- ds50010--------

    HapMap Linkage Disequilibrium report for SPINK2 (57676026 - 57687908 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPINK2: --

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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

    SPINK2 for disorders           About GeneDecksing

    OMIM gene information: 605753    OMIM disorders: --

    3 diseases for SPINK2:    About MalaCards
    celiac disease    epididymitis    infertility

    Human Genome Epidemiology (HuGE) Navigator: SPINK2 (1 document)

    Export disorders for SPINK2 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 SPINK2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SPINK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization and sequence of the gene encoding the human acrosin- trypsin inhibitor (HUSI-II). (PubMed id 8428671)1, 2, 3 Moeritz A.... Fink E. (1993)
    2. Identification of trypsin-inhibitory site and structure determination of human SPINK2 serine proteinase inhibitor. (PubMed id 19422058)1, 2, 9 Chen T.... Lyu P.-C. (2009)
    3. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PubMed id 20736409)1, 2 Li J.... Liu Y. (2010)
    4. 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)
    5. Molecular cloning and sequence analysis of the cDNA encoding the human acrosin-trypsin inhibitor (HUSI-II). (PubMed id 1704312)1, 2 Moeritz A.... Fink E. (1991)
    6. Amino acid sequence elucidation of human acrosin-trypsin inhibitor (HUSI-II) reveals that Kazal-type proteinase inhibitors are structurally related to beta-subunits of glycoprotein hormones. (PubMed id 2226783)1, 2 Fink E.... Eulitz M. (1990)
    7. The SPINK gene family and celiac disease susceptibility. (PubMed id 17333166)1 Wapenaar M.C....Wijmenga C. (2007)
    8. A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Gene expression patterns associated with infertility in humans and rodent models. (PubMed id 15120973)1 Rockett J.C....Dix D.J. (2004)

    (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: 6691 HGNC: 11245 AceView: SPINK2 Ensembl:ENSG00000128040 euGenes: HUgn6691
    ECgene: SPINK2 H-InvDB: SPINK2

    (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 SPINK2 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 SPINK2 gene:
    Search GeneIP for patents involving SPINK2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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