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

VWA5A Gene

protein-coding   GIFtS: 44
GCID: GC11P123987

von Willebrand factor A domain containing 5A

(Previous names: loss of heterozygosity, 11, chromosomal region 2, gene...)
(Previous symbol: LOH11CR2A)
 Explore 4 diseases affiliated with
VWA5A via our new
 Human Malady Compendium 
Biological research products
for VWA5A
    

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

Aliases
Von Willebrand Factor A Domain Containing 5A1 2     Breast Cancer Suppressor Candidate 12 3
LOH11CR2A1 2 3 5     Loss Of Heterozygosity 11 Chromosomal Region 2 Gene A Protein2 3
BCSC-11 2 3     Ortholog Of Mouse AW5519842
BCSC12 3 5     Von Willebrand Factor A Domain-Containing Protein 5A2
Loss Of Heterozygosity, 11, Chromosomal Region 2, Gene A1 2     

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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VWA5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00534

  • VWA5A Protein expression data from MOPED and PaxDb:    About this image 
    VWA5A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123614.1  NP_055437.2  NP_938057.1  

    ENSEMBL proteins: 
     ENSP00000407726   ENSP00000355070   ENSP00000404683   ENSP00000432231   ENSP00000431452  
     ENSP00000376501   ENSP00000376504   ENSP00000353485  

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    Novus Biologicals VWA5A Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for VWA5A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    VWA5A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VWA5A


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

    VWA5A for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (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

    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 - Customizable classic, inducible, and humanized mouse model solutions for VWA5A 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidVWA5A 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA5A


    (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 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 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 VWA5A
    Search CenterWatch for drugs/clinical trials and news about VWA5A / VMA5A 

    (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 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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456829(uc001pzu.3 uc001pzt.3) ENST00000361352(uc001pzr.3)
    ENST00000449321(uc001pzs.3 uc010sae.2) ENST00000524524 ENST00000530025
    ENST00000392744 ENST00000533623 ENST00000392748 ENST00000360334

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VWA5A
    3 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VWA5A (see all 4)
    OriGene shRNA RFP: VWA5A
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    Sirion Biotech Custom design and validation of potent shRNA sequences against VWA5A 
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWA5A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VWA5A

    Additional cDNA 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 

    24/123 AceView cDNA sequences (see all 123):

    CA952694 NM_014622 BU619632 BU633353 CR599674 AL548501 BT006655 CA424211 
    BP338115 AI564882 BM768378 AY366508 BI255861 BE856012 CA952446 AU279509 
    AU131195 AY366505 BI757746 BU618586 BM981561 AA534528 BC001234 AL541683 

    GeneLoc Exon Structure

    5/8 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™, 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

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

    VWA5A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See VWA5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWA5A

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for VWA5A gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves VWA5A6
    Uncharacterized protein
    33(a)
    1 ↔ 1
    27(61775-69431)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    44(a)
    38(a)
    1 ↔ many
    1 ↔ many
    GL343253.1(1791085-1813620)
    GL343253.1(1882641-1896787)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689532 hypothetical protein MGC68953 73.96(n)    BC057735.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005351461 von Willebrand factor A domain-containing protein 5A-like 54.57(n)
    47.29(a)
      100535146  XM_003201390.1  XP_003201438.1 


    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)
    About This Section
    Paralogs for VWA5A gene
    PARP42  VWA5B12  VWA5B22  

    VWA5A 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

    10/626 NCBI SNPs in VWA5A are shown (see all 626    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--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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VWA5A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    VWA5A for disorders           About GeneDecksing

    OMIM gene information: 602929    OMIM disorders: --

    4 diseases for VWA5A:    About MalaCards
    breast cancer    nasopharynx carcinoma    nasopharyngitis    carcinoma


    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)
    About This Section

    PubMed articles for VWA5A gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with VWA5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (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. (1997)
    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. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Breast cancer suppressor candidate-1 (BCSC-1) is a mel anoma tumor suppressor that down regulates MITF. (PubMed id 22594792)1 Anghel S.I....Piguet V. (2012)
    6. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    7. A genome-wide association study of aging. (PubMed id 21782286)1 Walter S....Franceschini N. (2011)
    8. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Frequent alterations of LOH11CR2A, PIG8 and CHEK1 gene s at chromosomal 11q24.1-24.2 region in breast carcinoma: clinical and prognosti c implications. (PubMed id 21803008)1 Sinha S....Panda C.K. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4013 HGNC: 6658 AceView: LOH11CR2A Ensembl:ENSG00000110002 euGenes: HUgn4013
    ECgene: VWA5A H-InvDB: VWA5A

    (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 VWA5A 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 VWA5A gene:
    Search GeneIP for patents involving VWA5A

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