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

FAM219A Gene

protein-coding   GIFtS: 41
GCID: GC09M034400

family with sequence similarity 219, member A

(Previous name: chromosome 9 open reading frame 25 )
(Previous symbol: C9orf25)
  Search for FAM219A
in our new
 Human Malady Compendium 
Biological research products
for FAM219A
    

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

Aliases
Family With Sequence Similarity 219, Member A1 2     Chromosome 9 Open Reading Frame 251
C9orf251 2 3     Protein FAM219A2
BA573M23.51     Uncharacterized Protein C9orf252
FLJ390311     

External Ids:    HGNC: 199201   Entrez Gene: 2032592   Ensembl: ENSG000001649707   UniProtKB: Q8IW503   

Export aliases for FAM219A gene to outside databases


(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 FAM219A:
The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple
alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
(provided by RefSeq, Dec 2010)




(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_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM219A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM219A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM219A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM219A


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p11.2

FAM219A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM219A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M034400:  view genomic region     (about GC identifiers)

Start:
34,398,182 bp from pter      End:
34,458,568 bp from pter
Size:
60,387 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: F219A_HUMAN, Q8IW50 (See protein sequence)
Recommended Name: Protein FAM219A  
Size: 185 amino acids; 20400 Da
Sequence caution: Sequence=CAI13147.1; Type=Erroneous initiation; Sequence=CAI13149.1; Type=Erroneous initiation;
Sequence=CAI13151.1; Type=Erroneous initiation; Sequence=CAI13152.1; Type=Erroneous initiation; Sequence=CAI13153.1;
Type=Erroneous initiation; Sequence=CAI15969.1; Type=Erroneous initiation; Sequence=CAI15970.1; Type=Erroneous
initiation; Sequence=CAI15972.1; Type=Erroneous initiation; Sequence=CAI15973.1; Type=Erroneous initiation;
Sequence=CAI15974.1; Type=Erroneous initiation;
Secondary accessions: A2A364 B4DFE1 B4DSR8 Q5T590 Q5T591 Q5T592 Q5T594 Q5T595 Q8TAZ8
Alternative splicing: 7 isoforms:  Q8IW50-1   Q8IW50-2   Q8IW50-3   Q8IW50-4   Q8IW50-5   Q8IW50-6   Q8IW50-7   

Explore the universe of human proteins at neXtProt for FAM219A: NX_Q8IW50

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IW50

  • FAM219A Protein expression data from MOPED and PaxDb:    About this image 
    FAM219A Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001171869.1  NP_001171870.1  NP_001171871.1  NP_001171872.1  NP_001171874.1  NP_671735.1  

    ENSEMBL proteins: 
     ENSP00000368382   ENSP00000368380   ENSP00000368377   ENSP00000368372   ENSP00000368371  
     ENSP00000297620   ENSP00000409737   ENSP00000368369   ENSP00000392452  

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    Uscn Proteins for FAM219A


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    Uscn ELISAs and CLIAs for FAM219A


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

    ProtoNet protein and cluster: Q8IW50

    UniProtKB/Swiss-Prot: F219A_HUMAN, Q8IW50
    Similarity: Belongs to the FAM219 family


    (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

    Phenotypes:
         2 GenomeRNAi human phenotypes for FAM219A:
     Increased cell number in G2M,   Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAM219A 

    miRNA
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    Inhib. RNA
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM219A


    (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 FAM219A

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

    5/6 Interacting proteins for FAM219A (Q8IW502, 3 ENSP000002976204) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDE6DO439242, 3MINT-64850 I2D: score=5 
    POLA2Q141812, 3MINT-64852 I2D: score=5 
    WWC1Q8IX032, 3MINT-64851 I2D: score=4 
    SPRY2O435972, 3MINT-8271949 I2D: score=2 
    NIPSNAP3AQ9UFN02, 3, ENSP000003638994MINT-8263786 I2D: score=2 STRING: ENSP00000363899
    About this table

    (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 FAM219A
    Search CenterWatch for drugs/clinical trials and news about FAM219A / F219A 

    (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 FAM219A gene (7 alternative transcripts): 
    NM_001184944.1  NM_001184940.1  NM_001184941.1  NM_001184942.1  NM_001184943.1  NM_001184945.1  NM_147202.1  

    Unigene Cluster for FAM219A:

    Family with sequence similarity 219, member A
    Hs.493771  [show with all ESTs]
    Unigene Representative Sequence: NM_001184940
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379089 ENST00000379087 ENST00000379084 ENST00000379081 ENST00000379080
    ENST00000297620 ENST00000422409 ENST00000379078 ENST00000445726(uc011lok.2 uc003zuj.3 uc011lol.2 uc003zul.3 uc022bgc.1 uc022bgd.1 uc003zuk.3)


    miRNA
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    OriGene 3'-UTR Clone: FAM219A
    Browse OriGene MicroRNA Expression Plasmids
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    SwitchGear 3'UTR luciferase reporter plasmidFAM219A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM219A (see all 7)
    OriGene shRNA RFP: FAM219A
    OriGene siRNA: FAM219A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM219A
    Sirion Biotech Custom design and validation of potent shRNA sequences against FAM219A 
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF131828.1 AK022819.1 AK026087.1 AK091262.1 AK096350.1 AK123887.1 AK294054.1 AK299882.1 
    AL833397.1 BC015785.1 BC025348.1 BC041009.2 

    10 DOTS entries:

    DT.92441080  DT.456056  DT.100661324  DT.100782388  DT.40315883  DT.95082218  DT.75101050  DT.92441082 
    DT.86850074  DT.92001729 

    24/198 AceView cDNA sequences (see all 198):

    Z40557 BQ052935 CR612535 BF195182 CA450026 CA423963 AI825871 CA389207 
    BQ888269 BE858193 AK026087 AW192306 CA391355 NM_147202 BG982512 AI140363 
    BQ010689 T34426 AA479037 CD366572 BC015785 AI696157 BM709936 AI304836 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FAM219A (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:        -                 -     -                 -                           
    SP2:        -                 -     -                 -                           
    SP3:                          -     -                 -                           
    SP4:                                -                 -                           
    SP5:                                -                                             


    ECgene alternative splicing isoforms for FAM219A

    (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

    FAM219A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCGTGTAT
    FAM219A Expression
    About this image

    FAM219A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudUreteric Bud CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM219A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM219A

    SOURCE GeneReport for Unigene cluster: Hs.493771
        SABiosciences Custom PCR Arrays for FAM219A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM219A

    (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 FAM219A gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CZH9orf251 chromosome Z open reading frame, human C9orf25 84.86(n)
    95.14(a)
      768856  XM_001231782.2  XP_001231783.1 
    lizard
    (Anolis carolinensis)
    Reptilia C9orf256
    --
    88(a)
    1 ↔ 1
    GL343482.1(428710-457646)
    zebrafish
    (Danio rerio)
    Actinopterygii BM102941.12   -- 76.72(n)    BM102941.1 


    ENSEMBL Gene Tree for FAM219A (if available)
    TreeFam Gene Tree for FAM219A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM219A gene
    FAM219B2  
    1 SIMAP similar gene for FAM219A using alignment to 3 protein entries:     F219A_HUMAN (see all proteins):
    FAM219B

    FAM219A 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

    10/862 NCBI SNPs in FAM219A are shown (see all 862    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1863023401,2
    --34400046(+) AGCCCA/TCTGGA 6 -- ut310--------
    rs1475665381,2
    --34400186(+) AGAAGA/CGTGGG 6 -- ut310--------
    rs773932381,2
    --34400338(+) GAAGCA/GGGTGA 6 -- ut310--------
    rs1449287371,2
    --34400396(+) CTACCC/TGGTTG 6 -- ut310--------
    rs1912094321,2
    --34400431(+) TGAGGA/GGGGGG 6 -- ut310--------
    rs1155082531,2
    C,F--34400473(+) GCGTGT/CGAAGG 6 -- ut311Minor allele frequency- C:0.03WA 118
    rs1512992801,2
    --34400510(+) CCACTA/GCCCTG 6 -- ut310--------
    rs117933081,2
    C,F,A,H--34400581(+) GGCTTC/TGCTGG 6 -- ut31 ese321Minor allele frequency- T:0.42NS EA NA WA 2338
    rs1113909031,2
    C--34400596(+) GGGCCG/AAGCCC 6 -- ut311Minor allele frequency- A:0.50WA 2
    rs456232331,2
    C--34400605(+) CCCTGA/C/GCTTTG 12 -- ut313CSA NA EA 241

    HapMap Linkage Disequilibrium report for FAM219A (34398182 - 34458568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM219A: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 FAM219A gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with FAM219A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)

    (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: 203259 HGNC: 19920 AceView: C9orf25 Ensembl:ENSG00000164970 euGenes: HUgn203259
    ECgene: FAM219A H-InvDB: FAM219A

    (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 FAM219A 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 FAM219A gene:
    Search GeneIP for patents involving FAM219A

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    von Willebrand factor
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