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

DLGAP3 Gene

protein-coding   GIFtS: 50
GCID: GC01M035331

discs, large (Drosophila) homolog-associated protein 3

 Explore 3 diseases affiliated with
DLGAP3 via our new
 Human Malady Compendium 
Biological research products
for DLGAP3
    

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

Aliases
Discs, Large (Drosophila) Homolog-Associated Protein 31 2     PSD-95/SAP90-Binding Protein 32 3
DAP31 2 3     SAP90/PSD-95-Associated Protein 32 3
SAPAP31 2 3     Disks Large-Associated Protein 32
DAP-32 3     SAP90/PSD 95 Associated Protein 32

External Ids:    HGNC: 303681   Entrez Gene: 585122   Ensembl: ENSG000001165447   OMIM: 6114135   UniProtKB: O958863   

Export aliases for DLGAP3 gene to outside databases

Previous GC identifers: GC01M034759 GC01M035000 GC01M035103 GC01M033448


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

UniProtKB/Swiss-Prot: DLGP3_HUMAN, O95886
Function: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter
protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma
membrane




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DLGAP3 gene promoter:
         SREBP-1c   ATF-2   NRSF form 1   SREBP-1b   GATA-2   CRE-BP1   SREBP-1a   Zic1   COMP1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDLGAP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for DLGAP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLGAP3


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

Entrez Gene cytogenetic band: 1p35.3-p34.1   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p35.3-p34.1

DLGAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLGAP3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M035331:  view genomic region     (about GC identifiers)

Start:
35,331,037 bp from pter      End:
35,395,186 bp from pter
Size:
64,150 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: DLGP3_HUMAN, O95886 (See protein sequence)
Recommended Name: Disks large-associated protein 3  
Size: 979 amino acids; 106040 Da
Subunit: Interacts with DLG4/PSD-95 (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse, postsynaptic
cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density
of neuronal cells (By similarity)
Sequence caution: Sequence=AAD20042.1; Type=Frameshift; Positions=833;
Secondary accessions: Q5TDD5 Q9H3X7

Explore the universe of human proteins at neXtProt for DLGAP3: NX_O95886

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95886

  • DLGAP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073887.1  
    ENSEMBL proteins: 
     ENSP00000362444   ENSP00000235180  

    Human Recombinant Protein Products: 
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    Uscn Proteins for DLGAP3

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane IEA--
    GO:0014069postsynaptic density IEA--
    GO:0019717synaptosome ----
    GO:0030054cell junction IEA--


    DLGAP3 for ontologies           About GeneDecksing



    DLGAP3 Antibody Products: 
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    Uscn ELISAs and CLIAs for DLGAP3


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

    DLGAP3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005026 GKAP

    Graphical View of Domain Structure for InterPro Entry O95886

    ProtoNet protein and cluster: O95886

    1 Blocks protein family: IPB005026 Guanylate-kinase-associated protein

    UniProtKB/Swiss-Prot: DLGP3_HUMAN, O95886
    Similarity: Belongs to the SAPAP 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: DLGP3_HUMAN, O95886
    Function: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter
    protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma
    membrane

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    hsa-miR-148b* hsa-miR-100* hsa-miR-4271 hsa-miR-4318 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3175
    SwitchGear 3'UTR luciferase reporter plasmidDLGAP3 3' UTR sequence
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IEA--
    GO:0005515protein binding IPI17474147
    GO:0019904protein domain specific binding ----


    DLGAP3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dlgap3tm1Gfng for DLGAP3
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dlgap3):
     behavior/neurological  integument  nervous system 

    DLGAP3 for phenotypes           About GeneDecksing


    (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 DLGAP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/26 Interacting proteins for DLGAP3 (O958861, 2, 3 ENSP000002351804) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-8111127 I2D: score=2 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111847 I2D: score=2 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8112459 I2D: score=2 STRING: ENSP00000244007
    NCK1P163331, 3, ENSP000002889864EBI-1752541,EBI-3448658 I2D: score=2 STRING: ENSP00000288986
    SRCP129312, 3, ENSP000003509414MINT-8112999 I2D: score=2 STRING: ENSP00000350941
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007267cell-cell signaling IEA--


    DLGAP3 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 DLGAP3
    Search CenterWatch for drugs/clinical trials and news about DLGAP3 / DLGP3 

    (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 DLGAP3 gene: 
    NM_001080418.1  

    Unigene Cluster for DLGAP3:

    Discs, large (Drosophila) homolog-associated protein 3
    Hs.733945  [show with all ESTs]
    Unigene Representative Sequence: NM_001080418
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373347 ENST00000495979 ENST00000235180(uc001byc.3)

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    hsa-miR-148b* hsa-miR-100* hsa-miR-4271 hsa-miR-4318 hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3175
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    Additional cDNA sequence: 

    AF131778.1 AK294907.1 BC114370.1 BC141907.1 

    3 DOTS entries:

    DT.75101288  DT.75173493  DT.101964816 

    24/181 AceView cDNA sequences (see all 181):

    BM843300 BE540424 BC011880 Z42527 BI666564 BE253327 BE388676 AI269638 
    BQ710925 AI419254 BC064320 BI667162 BU902025 BE731676 CB530033 BE504811 
    CA503361 AI080133 BX112856 BU607539 CF552366 CD674208 CD677971 CA389995 

    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™, 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

    DLGAP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATCCCACTG

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

    About this image
    See DLGAP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLGAP3

    SOURCE GeneReport for Unigene cluster: Hs.733945
        SABiosciences Custom PCR Arrays for DLGAP3
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    In Situ
    Assay Products:
     

     
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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 common ancestor of animals.

    Orthologs for DLGAP3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DLGAP31 discs, large (Drosophila) homolog-associated protein more 75.9(n)
    74.29(a)
      419638  XM_417786.3  XP_417786.3 
    lizard
    (Anolis carolinensis)
    Reptilia DLGAP36
    --
    59(a)
    1 ↔ 1
    GL343558.1(403335-449903)
    zebrafish
    (Danio rerio)
    Actinopterygii dlgap31 discs, large (Drosophila) homolog-associated protein more 62.07(n)
    60.25(a)
      557556  NM_001044714.2  NP_001038179.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vlc6
    vulcan
    12(a)
    1 → many
    2R(1589605-1592944)
    worm
    (Caenorhabditis elegans)
    Secernentea W03A5.46
    Protein W03A5.4
    16(a)
    1 → many
    III(5431368-5434428)


    ENSEMBL Gene Tree for DLGAP3 (if available)
    TreeFam Gene Tree for DLGAP3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLGAP3 gene
    DLGAP42  DLGAP12  DLGAP22  DLGAP52  
    3 SIMAP similar genes for DLGAP3 using alignment to 3 protein entries:     DLGP3_HUMAN (see all proteins):
    DLGAP2    DLGAP1    DLGAP4

    DLGAP3 for paralogs           About GeneDecksing



    (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

    10/609 NCBI SNPs in DLGAP3 are shown (see all 609    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462931911,2
    --35330630(+) ATTGTA/GCCCCT 1 -- ds50010--------
    rs1833883051,2
    --35330692(+) GGTTTA/GTTGAG 1 -- ds50010--------
    rs1878516541,2
    --35330801(+) AGCTTA/GGCACC 1 -- ds50010--------
    rs1924837371,2
    --35330811(+) CCTCCC/GCCTCT 1 -- ds50010--------
    rs1847152961,2
    --35330862(+) CTGTGA/GGCATC 1 -- ds50010--------
    rs1485113601,2
    --35330947(+) CAAGAA/GAGTGG 1 -- ds50010--------
    rs118070601,2
    C,F,H,--35331107(+) TGAGGG/AGAAGC 1 -- ut31 ese38Minor allele frequency- A:0.06NS NA WA 1178
    rs1143413071,2
    F,--35331328(+) GGGGAG/TGGGGG 1 -- ut311Minor allele frequency- T:0.06WA 118
    rs1879893111,2
    --35331526(+) AAGGTA/GAAAAA 1 -- ut310--------
    rs1421239311,2
    F--35331708(+) TCGGGG/AATGTA 2 /I syn11Minor allele frequency- A:0.00NA 3624

    HapMap Linkage Disequilibrium report for DLGAP3 (35331037 - 35395186 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DLGAP3
         3 CNVs: 74443 84174 84175
    Human Gene Mutation Database (HGMD): DLGAP3

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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

    DLGAP3 for disorders           About GeneDecksing

    OMIM gene information: 611413    OMIM disorders: --

    3 diseases for DLGAP3:    About MalaCards
    fragile x syndrome    trichotillomania    neuronitis

    1 disease from the University of Copenhagen DISEASES database for DLGAP3:
    Trichotillomania
    Human Genome Epidemiology (HuGE) Navigator: DLGAP3 (5 documents)

    Export disorders for DLGAP3 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 DLGAP3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with DLGAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    2. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    3. Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. (PubMed id 19051237)1, 9 Bienvenu O.J....Nestadt G. (2008)
    4. Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation. (PubMed id 22761992)1 Chua J.J....Kindler S. (2012)
    5. Interaction between genetic variants of DLGAP3 and SL C1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms. (PubMed id 21990008)1 Ryu S....Hong K.S. (2011)
    6. Family-based genetic association study of DLGAP3 in T ourette Syndrome. (PubMed id 21184590)1 Crane J....Scharf J.M. (2011)
    7. Investigating SAPAP3 variants in the etiology of obse ssive-compulsive disorder and trichotillomania in the South African white popul ation. (PubMed id 21295225)1 Boardman L....Hemmings S.M. (2011)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    9. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. (PubMed id 19096451)1 ZA1chner S....Murphy D.L. (2009)
    10. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)

    (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: 58512 HGNC: 30368 AceView: LOC113444 Ensembl:ENSG00000116544 euGenes: HUgn58512
    ECgene: DLGAP3 H-InvDB: DLGAP3

    (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 DLGAP3 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 DLGAP3 gene:
    Search GeneIP for patents involving DLGAP3

    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, 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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