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VWA5B1 Gene

protein-coding   GIFtS: 41
GCID: GC01P020617

Von Willebrand Factor A Domain Containing 5B1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Von Willebrand Factor A Domain Containing 5B11 2
Von Willebrand Factor A Domain-Containing Protein 5B12

External Ids:    HGNC: 265381   Entrez Gene: 1277312   Ensembl: ENSG000001588167   UniProtKB: Q5TIE33   

Export aliases for VWA5B1 gene to outside databases

Previous GC identifers: GC01P020491 GC01P018863


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for VWA5B1 Gene:
VWA5B1 (von Willebrand factor A domain containing 5B1) is a protein-coding gene. An important paralog of this gene is PARP4.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWA5B1 gene promoter:
         C/EBPbeta   ATF-2   MyoD   XBP-1   CP2   HFH-1   COMP1   FOXO1a   c-Myb   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for VWA5B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWA5B1


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

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

VWA5B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA5B1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P020617:  view genomic region     (about GC identifiers)

Start:
20,617,412 bp from pter      End:
20,681,387 bp from pter
Size:
63,976 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VW5B1_HUMAN, Q5TIE3 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 5B1 precursor  
Size: 1220 amino acids; 133802 Da
Sequence caution: Sequence=BAB71439.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A4IF35 A4IF36 Q3ZCM4 Q6ZUB4 Q96M71
Alternative splicing: 5 isoforms:  Q5TIE3-1   Q5TIE3-2   Q5TIE3-3   Q5TIE3-4   Q5TIE3-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA5B1: NX_Q5TIE3

Explore proteomics data for VWA5B1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn140, Asn650, Asn1017
  • Modification sites at PhosphoSitePlus

  • See VWA5B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034589.2  
    ENSEMBL proteins: 
     ENSP00000431194   ENSP00000364220   ENSP00000437095   ENSP00000437028   ENSP00000432600  
     ENSP00000435623   ENSP00000289815   ENSP00000364224   ENSP00000289825  

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for VWA5B1 

     
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    Search antibodies-online for peptides for VWA5B1

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for VWA5B1 
    antibodies-online kits for VWA5B1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR013694 VIT
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q5TIE3

    ProtoNet protein and cluster: Q5TIE3

    UniProtKB/Swiss-Prot: VW5B1_HUMAN, Q5TIE3
    Similarity: Contains 1 VIT domain
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with VWA5B1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VWA5B1

    miRNA
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    Block miRNA regulation of human, mouse, rat VWA5B1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate VWA5B1:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat VWA5B1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA5B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VW5B1_HUMAN, Q5TIE3: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    cytosol2
    mitochondrion2
    plasma membrane2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with VWA5B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VWA5B1
    Interactions:

        Search GeneGlobe Interaction Network for VWA5B1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VWA5B1 (VW5B1)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VWA5B1 gene (2 alternative transcripts): 
    NM_144623.2  NM_001039500.2  

    Unigene Cluster for VWA5B1:

    Von Willebrand factor A domain containing 5B1
    Hs.205178  [show with all ESTs]
    Unigene Representative Sequence: NM_001039500
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485375 ENST00000375079 ENST00000473325(uc001bdd.2) ENST00000530722
    ENST00000534075 ENST00000467486 ENST00000525343 ENST00000289815(uc009vpt.2)
    ENST00000375083 ENST00000289825
    miRNA
    Products:
         
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    5 qRT-PCR Assays for microRNAs that regulate VWA5B1:
    hsa-miR-130b* hsa-miR-3176 hsa-miR-510 hsa-miR-3922-3p hsa-miR-455-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VWA5B1
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    GenScript: all cDNA clones in your preferred vector: VWA5B1 (NM_001039500)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VWA5B1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VWA5B1
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    OriGene qSTAR qPCR primer pairs in human, mouse for VWA5B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VWA5B1
      QuantiTect SYBR Green Assays in human, mouse, rat VWA5B1
      QuantiFast Probe-based Assays in human, mouse, rat VWA5B1

    Additional mRNA sequence: 

    AK125833.1 AK295797.1 BC101378.1 BC101379.2 BC101380.1 BC101381.1 

    5 DOTS entries:

    DT.101960175  DT.40303351  DT.121354269  DT.121354260  DT.121354271 

    6 AceView cDNA sequences:

    NM_144623 AK057346 BX116920 AA630176 AK125833 AI797955 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VWA5B1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:                                                                                                                                                            
    SP2:                                                                                                                          -     -                           
    SP3:                    -                                                                                                                                       
    SP4:              -     -                                                                                                                                       
    SP5:              -     -                                                                                                                                       


    ECgene alternative splicing isoforms for VWA5B1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VWA5B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAACAGCCA
    VWA5B1 Expression
    About this image


    VWA5B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    VWA5B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWA5B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.205178
        Custom PCR Arrays for VWA5B1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA5B1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for VWA5B1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa5b11 , 5 von Willebrand factor A domain containing 5B11, 5 79.94(n)1
    74.12(a)1
      4 (70.43 cM)5
    757181  NM_029401.11  NP_083677.11 
     1385653605 
    chicken
    (Gallus gallus)
    Aves VWA5B11 von Willebrand factor A domain containing 5B1 64.88(n)
    58.35(a)
      771681  XM_001234928.3  XP_001234929.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017302631 von Willebrand factor A domain-containing protein 5B1-like 62.92(n)
    56.97(a)
      101730263  XM_004919918.1  XP_004919975.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vwa5b16
    von Willebrand factor A domain containing 5B1
    49(a)
    1 ↔ 1
    23(37226235-37319313) ENSDARG00000059705


    ENSEMBL Gene Tree for VWA5B1 (if available)
    TreeFam Gene Tree for VWA5B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWA5B1 gene
    PARP42  VWA5A2  VWA5B22  

    Find genes that share paralogs with VWA5B1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VWA5B1 (see all 1479)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs764702471,2
    F--20615455(+) TGAGGG/TTTAAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs753435501,2
    F--20615482(+) GAAAGG/CCTTCA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs168238051,2
    C,F,H--20615501(+) TTGTGT/AGGGAC 1 -- us2k120Minor allele frequency- A:0.07NA NS EA WA 2458
    rs1873564061,2
    --20615514(+) AATCTA/GGTTGG 1 -- us2k10--------
    rs746901061,2
    C,F--20615534(+) TGCCAG/AGTTCC 1 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1904683361,2
    --20615573(+) TTTCCC/GCAAGC 1 -- us2k10--------
    rs127318181,2
    C,F--20615583(+) CACTGG/CCTCCA 1 -- us2k15Minor allele frequency- C:0.07NA 128
    rs46548471,2
    C,F--20615594(+) AGGCCC/TAGCTC 1 -- us2k11Minor allele frequency- T:0.05NA 120
    rs46548481,2
    C,F,A,H--20615595(+) GGCCCG/AGCTCA 1 -- us2k120Minor allele frequency- A:0.35NA NS EA WA CSA 1329
    rs348057341,2
    C,F--20615696(+) ACCTAT/CCATTT 1 -- us2k15Minor allele frequency- C:0.06NA 128

    HapMap Linkage Disequilibrium report for VWA5B1 (20617412 - 20681387 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VWA5B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669937CNV Deletion23128226
    nsv5631CNV Insertion18451855
    nsv871750CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VWA5B1
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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.)
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    Find genes that share disorders with VWA5B1           About GenesLikeMe

    Genetic Association Database (GAD): VWA5B1
    Human Genome Epidemiology (HuGE) Navigator: VWA5B1 (1 document)

    Export disorders for VWA5B1 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)
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    PubMed articles for VWA5B1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with VWA5B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 127731 HGNC: 26538 AceView: FLJ32784 Ensembl:ENSG00000158816 euGenes: HUgn127731
    ECgene: VWA5B1 H-InvDB: VWA5B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VWA5B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VWA5B1 gene:
    Search GeneIP for patents involving VWA5B1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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