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VWA5A Gene

protein-coding   GIFtS: 47
GCID: GC11P123987

Von Willebrand Factor A Domain Containing 5A

(Previous names: loss of heterozygosity, 11, chromosomal region 2, gene A)
(Previous symbol: LOH11CR2A)
  See VWA5A-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)
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Aliases
Von Willebrand Factor A Domain Containing 5A1 2     Loss Of Heterozygosity 11 Chromosomal Region 2 Gene A Protein2 3
LOH11CR2A1 2 3 5     BCSC-12 3
BCSC12 3 5     Ortholog Of Mouse AW5519842
Loss Of Heterozygosity, 11, Chromosomal Region 2, Gene A1 2     Von Willebrand Factor A Domain-Containing Protein 5A2
Breast Cancer Suppressor Candidate 12 3     

External Ids:    HGNC: 66581   Entrez Gene: 40132   Ensembl: ENSG000001100027   OMIM: 6029295   UniProtKB: O005343   

Export aliases for VWA5A gene to outside databases

Previous GC identifers: GC11P123492 GC11P119926


(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 VWA5A Gene:
VWA5A (von Willebrand factor A domain containing 5A) is a protein-coding gene. Diseases associated with VWA5A include breast cancer. An important paralog of this gene is PARP4.

UniProtKB/Swiss-Prot: VMA5A_HUMAN, O00534
Function: May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and
disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis




(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_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWA5A gene promoter:
         LHX3b/Lhx3b   C/EBPbeta   FOXD3   Olf-1   Gfi-1   AREB6   PPAR-gamma1   HOXA5   Cart-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWA5A promoter sequence
   Search Chromatin IP Primers for VWA5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWA5A


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

Entrez Gene cytogenetic band: 11q24.1   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24.1

VWA5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA5A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P123987:  view genomic region     (about GC identifiers)

Start:
123,986,069 bp from pter      End:
124,018,428 bp from pter
Size:
32,360 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VMA5A_HUMAN, O00534 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 5A  
Size: 786 amino acids; 86489 Da
Secondary accessions: Q6UN19 Q6UN20 Q9BVF8
Alternative splicing: 4 isoforms:  O00534-1   O00534-2   O00534-3   O00534-4   

Explore the universe of human proteins at neXtProt for VWA5A: NX_O00534

Explore proteomics data for VWA5A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys621
  • Modification sites at PhosphoSitePlus

  • See VWA5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001123614.1  NP_055437.2  NP_938057.1  

    ENSEMBL proteins: 
     ENSP00000407726   ENSP00000355070   ENSP00000404683   ENSP00000376501   ENSP00000376504  
     ENSP00000353485  

    VWA5A Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    (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 O00534

    ProtoNet protein and cluster: O00534

    UniProtKB/Swiss-Prot: VMA5A_HUMAN, O00534
    Similarity: Contains 1 VIT domain
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with VWA5A           About GenesLikeMe


    (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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VMA5A_HUMAN, O00534
    Function: May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and
    disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VWA5A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VWA5A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VWA5A

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate VWA5A:
    hsa-miR-515-5p hsa-miR-4314 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidVWA5A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VWA5A

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA5A


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----

    Find genes that share ontologies with VWA5A           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 VWA5A
    Interactions:

        Search GeneGlobe Interaction Network for VWA5A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for VWA5A (ENSP000003765044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 VWA5A (VMA5A)



    (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 VWA5A gene (3 alternative transcripts): 
    NM_001130142.1  NM_014622.4  NM_198315.2  

    Unigene Cluster for VWA5A:

    Von Willebrand factor A domain containing 5A
    Hs.152944  [show with all ESTs]
    Unigene Representative Sequence: NM_001130142
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456829(uc001pzu.3 uc001pzt.3) ENST00000361352(uc001pzr.3)
    ENST00000449321(uc001pzs.3 uc010sae.2) ENST00000392744 ENST00000533623
    ENST00000392748 ENST00000360334
    miRNA
    Products:
         
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    3 qRT-PCR Assays for microRNAs that regulate VWA5A:
    hsa-miR-515-5p hsa-miR-4314 hsa-miR-519e*
    SwitchGear 3'UTR luciferase reporter plasmidVWA5A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for VWA5A
    Predesigned siRNA for gene silencing in human, mouse, rat VWA5A
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    GenScript: all cDNA clones in your preferred vector (see all 3): VWA5A (NM_001130142)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWA5A
    Primer
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    OriGene qPCR primer pairs and template standards for VWA5A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VWA5A
      QuantiTect SYBR Green Assays in human, mouse, rat VWA5A
      QuantiFast Probe-based Assays in human, mouse, rat VWA5A

    Additional mRNA sequence: 

    AF002672.1 AK291698.1 AK295247.1 AK314934.1 AY366503.1 AY366504.1 AY366505.1 AY366506.1 
    AY366507.1 AY366508.1 BC001234.1 BT006655.1 

    14 DOTS entries:

    DT.100783388  DT.411752  DT.100783387  DT.101980471  DT.120685663  DT.100783385  DT.120685664  DT.100783386 
    DT.97769769  DT.97841319  DT.100644637  DT.102826375  DT.102826376  DT.120685683 

    Selected AceView cDNA sequences (see all 123):

    AY366503 NM_198315 BE856012 BU619632 CA424211 AY366508 AY366505 BI255861 
    BU633353 BU618586 AY366504 CD516738 CN480142 NM_014622 BP338115 BQ186769 
    CA952446 BI757746 AY366507 AU131195 AU279509 BM768378 AI753310 BM981561 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VWA5A (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for VWA5A

    (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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    VWA5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACACCTTA
    VWA5A Expression
    About this image


    VWA5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    VWA5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWA5A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.152944

    UniProtKB/Swiss-Prot: VMA5A_HUMAN, O00534
    Tissue specificity: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA5A

    (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 VWA5A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa5a1 , 5 von Willebrand factor A domain containing 5A1, 5 74.86(n)1
    69.53(a)1
      9 (20.89 cM)5
    677761  NM_172767.31  NP_766355.31 
     387182685 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    32(a)
    31(a)
    1 ↔ many
    1 ↔ many
    27(106493-114485) ENSGALG00000000193
    24(6286897-6296644) ENSGALG00000028815
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    45(a)
    36(a)
    1 ↔ many
    1 ↔ many
    GL343253.1(1791011-1814256)
    GL343253.1(1880857-1898093)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689532 hypothetical protein MGC68953 73.96(n)    BC057735.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005351911 von Willebrand factor A domain-containing protein 5A-like 54.33(n)
    47.85(a)
      100535191  XM_003201391.2  XP_003201439.2 


    ENSEMBL Gene Tree for VWA5A (if available)
    TreeFam Gene Tree for VWA5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWA5A gene
    PARP42  VWA5B12  VWA5B22  

    Find genes that share paralogs with VWA5A           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 VWA5A (see all 771)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803285311,2
    F--123984177(+) TTAGGG/ATAAGA 3 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1840315771,2
    --123984255(+) GATACA/GGTGGC 3 -- us2k10--------
    rs107906341,2
    C,F,A,H--123984528(+) AGGCTG/AGGCAA 3 -- us2k112Minor allele frequency- A:0.34NA WA CSA EA 374
    rs19398491,2
    C,H--123984666(+) CATCTA/TTATCG 3 -- us2k1 tfbs315Minor allele frequency- T:0.00MN NS EA NA WA CSA 613
    rs1887618781,2
    --123984671(+) TTATCA/GGTTTA 3 -- us2k10--------
    rs569234491,2
    C,F--123984683(+) TTGTGT/CATATT 3 -- us2k12Minor allele frequency- C:0.04WA 120
    rs1807814251,2
    --123984735(+) AACCAG/TCAACT 3 -- us2k10--------
    rs49368931,2
    C,F,A,H--123984748(+) TGTGTG/ATTTCC 3 -- us2k121Minor allele frequency- A:0.11NS EA NA 2648
    rs1862176371,2
    --123984783(+) TGCATG/TCCTGG 3 -- us2k10--------
    rs1903395331,2
    --123984851(+) TGCCCA/GCGTTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for VWA5A (123986069 - 124018428 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VWA5A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898435CNV Gain21882294
    dgv82n21CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VWA5A
    DNA2.0 Custom Variant and Variant Library Synthesis for VWA5A

    (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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    OMIM gene information: 602929    OMIM disorders: --

    1 disease for VWA5A:    
    About MalaCards
    breast cancer


    Find genes that share disorders with VWA5A           About GenesLikeMe

    Genetic Association Database (GAD): VWA5A

    Export disorders for VWA5A 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 VWA5A gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with VWA5A)
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    1. The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor gene. (PubMed id 14504409)1, 2, 3 Martin E.S.... Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    2. Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. (PubMed id 9417908)1, 2, 3 Monaco C.... Croce C.M. (Genomics 1997)
    3. A genome-wide association study of aging. (PubMed id 21782286)1, 4 Walter S....Franceschini N. (Neurobiol. Aging 2011)
    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. (Genome Res. 2004)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    7. Breast cancer suppressor candidate-1 (BCSC-1) is a melanoma tumor suppressor that down regulates MITF. (PubMed id 22594792)1 Anghel S.I....Piguet V. (amp 2012)
    8. Frequent alterations of LOH11CR2A, PIG8 and CHEK1 genes at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognostic implications. (PubMed id 21803008)1 Sinha S....Panda C.K. (Mol Oncol 2011)
    9. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 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)
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    Entrez Gene: 4013 HGNC: 6658 AceView: LOH11CR2A Ensembl:ENSG00000110002 euGenes: HUgn4013
    ECgene: VWA5A H-InvDB: VWA5A

    (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 VWA5A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for VWA5A gene:
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    GeneCards and IP:
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