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

TMBIM1 Gene

protein-coding   GIFtS: 48
GCID: GC02M219139

Transmembrane BAX Inhibitor Motif Containing 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane BAX Inhibitor Motif Containing 11 2     MST1002
Transmembrane BAX Inhibitor Motif-Containing Protein 12 3     MSTP1002
LFG32 3     Protein Lifeguard 32
RECS12 3     Protein RECS1 Homolog3

External Ids:    HGNC: 234101   Entrez Gene: 641142   Ensembl: ENSG000001359267   OMIM: 6103645   UniProtKB: Q969X13   

Export aliases for TMBIM1 gene to outside databases

Previous GC identifers: GC02M218965 GC02M218847 GC02M210992


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

GeneCards Summary for TMBIM1 Gene: 
TMBIM1 (transmembrane BAX inhibitor motif containing 1) is a protein-coding gene. Diseases associated with TMBIM1 include endotheliitis. An important paralog of this gene is TMBIM4.

UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1
Function: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role
in vascular remodeling

Gene Wiki entry for TMBIM1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMBIM1 gene promoter:
         Max1   AML1a   Brachyury   MyoD   LCR-F1   MZF-1   c-Rel   Pax-2b   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMBIM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMBIM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMBIM1


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

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

TMBIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMBIM1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219139:  view genomic region     (about GC identifiers)

Start:
219,138,915 bp from pter      End:
219,157,309 bp from pter
Size:
18,395 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1 (See protein sequence)
Recommended Name: Protein lifeguard 3  
Size: 311 amino acids; 34607 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Lysosome membrane. Endosome membrane
Sequence caution: Sequence=AAH26693.1; Type=Frameshift; Positions=6; Sequence=BAB55346.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAC11636.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: B3KQY6 Q8N1R3 Q8TAM3 Q96K13

Explore the universe of human proteins at neXtProt for TMBIM1: NX_Q969X1

Explore proteomics data for TMBIM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q969X1

  • TMBIM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMBIM1 Protein Expression
    REFSEQ proteins: NP_071435.2  
    ENSEMBL proteins: 
     ENSP00000258412   ENSP00000409738   ENSP00000401491   ENSP00000404709   ENSP00000414572  
     ENSP00000399987   ENSP00000399345   ENSP00000406744   ENSP00000412518   ENSP00000410136  
     ENSP00000410771   ENSP00000403462   ENSP00000395614   ENSP00000394946   ENSP00000405516  
     ENSP00000408729   ENSP00000413624   ENSP00000380025  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for TMBIM1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA16607040
    GO:0010008endosome membrane IDA16607040
    GO:0016021integral to membrane IEA--

    TMBIM1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR006214 Bax_inhibitor_1-related

    Graphical View of Domain Structure for InterPro Entry Q969X1

    ProtoNet protein and cluster: Q969X1

    UniProtKB/Swiss-Prot: LFG3_HUMAN, Q969X1
    Similarity: Belongs to the BI1 family. LFG subfamily


    TMBIM1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LFG3_HUMAN, Q969X1
    Function: Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role
    in vascular remodeling

    Phenotypes:
         3 GenomeRNAi human phenotypes for TMBIM1:

     G0/1 arrest  Increased G1 DNA content  Increased cell size 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMBIM1 
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    SwitchGear 3'UTR luciferase reporter plasmidTMBIM1 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMBIM1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMBIM1 (ENSP000002584124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RCHY1ENSP000003212394STRING: ENSP00000321239
    SOCS5ENSP000003051334STRING: ENSP00000305133
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TMBIM1 (LFG3)

    Search CenterWatch for drugs/clinical trials and news about TMBIM1 / LFG3

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMBIM1 gene: 
    NM_022152.4  

    Unigene Cluster for TMBIM1:

    Transmembrane BAX inhibitor motif containing 1
    Hs.591605  [show with all ESTs]
    Unigene Representative Sequence: AK090618
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000258412(uc002vhp.1 uc010zjz.1 uc010zka.1) ENST00000465082
    ENST00000444881(uc002vho.1) ENST00000445635 ENST00000437694 ENST00000439306
    ENST00000492966 ENST00000429501 ENST00000466012 ENST00000425694 ENST00000476429
    ENST00000495113 ENST00000418569 ENST00000440422 ENST00000444183 ENST00000453776
    ENST00000444000 ENST00000453281
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate TMBIM1 (see all 9):
    hsa-miR-374b* hsa-miR-3689b hsa-miR-3689a-5p hsa-miR-3689e hsa-miR-361-3p hsa-miR-3652 hsa-miR-556-3p hsa-miR-412
    SwitchGear 3'UTR luciferase reporter plasmidTMBIM1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMBIM1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMBIM1

    Additional mRNA sequence: 

    AB257295.1 AF173384.1 AF193045.1 AK027755.1 AK075465.1 AK090618.1 AK093911.1 AK130380.1 
    AK130713.1 AK298123.1 AK298500.1 AK300597.1 BC007980.2 BC013428.1 BC026348.1 BC026693.2 

    24/25 DOTS entries (see all 25):

    DT.453875  DT.100878573  DT.97857237  DT.100878577  DT.100878585  DT.100878581  DT.97860193  DT.40270711 
    DT.100044536  DT.120940014  DT.100878579  DT.120940020  DT.95068979  DT.100760914  DT.120939894  DT.120939899 
    DT.120939948  DT.120939905  DT.120939938  DT.120939947  DT.120939975  DT.95265054  DT.100726520  DT.92037678 

    24/625 AceView cDNA sequences (see all 625):

    CA432967 CD672873 CF127316 AA485293 CR603628 BE876675 AA314367 CA308938 
    BU731854 BM783320 AA586936 AI887529 BM973928 BM562548 AI203703 AA451947 
    BU621999 CA450215 CD109166 BQ008069 AW778790 AI985350 N26313 BU155642 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TMBIM1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                                                      
    SP2:                    -                                                                                 
    SP3:              -                                                                                       
    SP4:                    -                                                                                 
    SP5:              -     -                                                                                 


    ECgene alternative splicing isoforms for TMBIM1

    (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

    TMBIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCCATCTG
    TMBIM1 Expression
    About this image


    See TMBIM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMBIM1

    SOURCE GeneReport for Unigene cluster: Hs.591605
        SABiosciences Custom PCR Arrays for TMBIM1
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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 and fungi.

    Orthologs for TMBIM1 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmbim11 , 5 transmembrane BAX inhibitor motif containing 11, 5 86.08(n)1
    89.32(a)1
      1 (38.53 cM)5
    696601  NM_027154.51  NP_081430.31 
     742882475 
    chicken
    (Gallus gallus)
    Aves TMBIM11 transmembrane BAX inhibitor motif containing 1 71.02(n)
    72.22(a)
      424218  XM_422067.3  XP_422067.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMBIM16
    Uncharacterized protein
    70(a)
    1 ↔ 1
    1(88815165-88834073)
    zebrafish
    (Danio rerio)
    Actinopterygii tmbim11 transmembrane BAX inhibitor motif containing 1 62.19(n)
    58.72(a)
      449819  NM_001005992.1  NP_001005992.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303796
    --
    26(a)
    possible ortholog
    2R(3827461-3829375)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1206
    Y42H9AR.26
    (see all 3)
    Protein Y42H9AR.2
    (see all 3)
    36(a)
    33(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(9707550-9709814)
    IV(8099874-8101424)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BXI1(YNL305C)4 Protein involved in apoptosis; variously described more   --   14(59791-58898) 855411  NP_014094.1 


    ENSEMBL Gene Tree for TMBIM1 (if available)
    TreeFam Gene Tree for TMBIM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMBIM1 gene
    TMBIM42  GRINA2  ENSG000002281442  FAIM22  
    4 SIMAP similar genes for TMBIM1 using alignment to 15 protein entries:     LFG3_HUMAN (see all proteins):
    RECS1    FAIM2    TMBIM4    GRINA

    TMBIM1 for paralogs           About GeneDecksing



    (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) 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

    1 SNPs in TMBIM1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0173824
    ----see VAR_0173822 P L mis40--------

    HapMap Linkage Disequilibrium report for TMBIM1 (219138915 - 219157309 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMBIM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv519829CNV Loss19592680
    nsv875854CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 610364    OMIM disorders: --

    2 diseases for TMBIM1:    About MalaCards
    endotheliitis    


    TMBIM1 for disorders           About GeneDecksing


    Export disorders for TMBIM1 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 TMBIM1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TMBIM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RECS1 deficiency in mice induces susceptibility to cystic medial degeneration. (PubMed id 16607040)1, 2 Zhao H.... Nojima H. (2006)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. A shear stress responsive gene product PP1201 protect s against Fas-mediated apoptosis by reducing Fas expression on the cell surface . (PubMed id 21107705)1 Shukla S....Srinivasula S.M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64114 HGNC: 23410 AceView: PP1201 Ensembl:ENSG00000135926 euGenes: HUgn64114
    ECgene: TMBIM1 H-InvDB: TMBIM1

    (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 TMBIM1 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 TMBIM1 gene:
    Search GeneIP for patents involving TMBIM1

    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: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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