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VWA2 Gene

protein-coding   GIFtS: 45
GCID: GC10P115990

Von Willebrand Factor A Domain Containing 2

  See VWA2-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 21 2     CCSP-22 3
A Domain-Containing Protein Similar To Matrilin And Collagen2 3     NET422
Colon Cancer Secreted Protein 22 3     Colon Cancer Diagnostic Marker2
AMACO2 3     Von Willebrand Factor A Domain-Containing Protein 22

External Ids:    HGNC: 247091   Entrez Gene: 3407062   Ensembl: ENSG000001658167   UniProtKB: Q5GFL63   

Export aliases for VWA2 gene to outside databases

Previous GC identifer: GC10P109626


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VWA2 Gene:
This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is
localized to the extracellular matrix and may serve as a structural component in basement membranes or in
anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and
is a candidate serological marker for colon cancer. (provided by RefSeq, Jan 2013)

GeneCards Summary for VWA2 Gene:
VWA2 (von Willebrand factor A domain containing 2) is a protein-coding gene. Diseases associated with VWA2 include colon cancer. An important paralog of this gene is VWA1.

Gene Wiki entry for VWA2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWA2 gene promoter:
         HFH-3   TBP   C/EBPbeta   Lmo2   FOXD3   FOXI1   AREB6   SRY   FOXC1   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWA2 promoter sequence
   Search Chromatin IP Primers for VWA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWA2


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

Entrez Gene cytogenetic band: 10q25.3   Ensembl cytogenetic band:  10q25.3   HGNC cytogenetic band: 10q25.3

VWA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P115990:  view genomic region     (about GC identifiers)

Start:
115,999,018 bp from pter      End:
116,051,272 bp from pter
Size:
52,255 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: VWA2_HUMAN, Q5GFL6 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 2 precursor  
Size: 755 amino acids; 82012 Da
Subunit: Forms monomers and multimers (By similarity)
Miscellaneous: May be used as a serological marker for colon neoplasia
Secondary accessions: A1A5D4 B5MDJ8 Q6ZS39 Q6ZWJ7 Q708C5 Q70UZ8
Alternative splicing: 3 isoforms:  Q5GFL6-1   Q5GFL6-2   Q5GFL6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA2: NX_Q5GFL6

Explore proteomics data for VWA2 at MOPED

Post-translational modifications: 

  • A 55 kDa form is produced by proteolytic cleavage1
  • Glycosylation2 at Asn147

  • See VWA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001258975.1  
    ENSEMBL proteins: 
     ENSP00000376708   ENSP00000473752  

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for VWA2 

     
    antibodies-online proteins for VWA2 (5 products) 

     
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    antibodies-online antibodies for VWA2 (15 products) 

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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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    3 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q5GFL6

    ProtoNet protein and cluster: Q5GFL6

    UniProtKB/Swiss-Prot: VWA2_HUMAN, Q5GFL6
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 3 VWFA domains


    Find genes that share domains with VWA2           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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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with VWA2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VWA2

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    (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
    VWA2_HUMAN, Q5GFL6: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005604basement membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with VWA2           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 VWA2
    Interactions:

        Search GeneGlobe Interaction Network for VWA2

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007161calcium-independent cell-matrix adhesion IEA--

    Find genes that share ontologies with VWA2           About GenesLikeMe



    (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 VWA2



    (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 VWA2 gene (2 alternative transcripts): 
    NM_001272046.1  NM_198496.1  

    Unigene Cluster for VWA2:

    Von Willebrand factor A domain containing 2
    Hs.197741  [show with all ESTs]
    Unigene Representative Sequence: NM_001272046
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298715(uc001lbk.1 uc009xyf.1) ENST00000392982(uc001lbl.1)
    ENST00000603594
    miRNA
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    hsa-miR-374b* hsa-miR-513c hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidVWA2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat VWA2

    Additional mRNA sequence: 

    AJ536328.2 AJ616914.1 AK122716.1 AK127756.1 AY572972.1 BC128588.1 BC128589.1 BC143380.1 

    5 DOTS entries:

    DT.75140981  DT.40229862  DT.101980447  DT.101964591  DT.91963787 

    8 AceView cDNA sequences:

    BX956774 AW206492 AK127756 NM_198496 AK122716 AJ616914 AJ536328 AW855319 

    GeneLoc Exon Structure


    (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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    VWA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCACATAAA
    VWA2 Expression
    About this image


    VWA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
    VWA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.197741

    UniProtKB/Swiss-Prot: VWA2_HUMAN, Q5GFL6
    Tissue specificity: Expression is generally absent in normal colon and other normal body tissues, but it is
    induced an average of 78-fold in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon
    cancer cell lines

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for VWA2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa21 , 5 von Willebrand factor A domain containing 21, 5 81.78(n)1
    80.59(a)1
      19 (52.02 cM)5
    2406751  NM_172840.21  NP_766428.21 
     568742495 
    chicken
    (Gallus gallus)
    Aves VWA21 von Willebrand factor A domain containing 2 65.42(n)
    60.56(a)
      423907  XM_421769.4  XP_421769.4 
    lizard
    (Anolis carolinensis)
    Reptilia VWA26
    von Willebrand factor A domain containing 2
    51(a)
    1 ↔ 1
    GL343204.1(8169-65497)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.15642 Xenopus laevis transcribed sequence with weak similarity more 72.62(n)    CF285997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vwa21 von Willebrand factor A domain containing 2 59.66(n)
    51.21(a)
      567428  XM_690723.5  XP_695815.4 
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    Protein MUP-4 (mup-4) mRNA, complete cds
    6(a)
    1 → many
    III(7479681-7489075) WBGene00003497


    ENSEMBL Gene Tree for VWA2 (if available)
    TreeFam Gene Tree for VWA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWA2 gene
    VWA12  MATN42  COL14A12  MATN32  MATN22  VIT2  COL12A12  COCH2  
    COL20A12  MATN12  
    2 SIMAP similar genes for VWA2 using alignment to 1 protein entry:     VWA2_HUMAN:
    F9    COL21A1

    Find genes that share paralogs with VWA2           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 VWA2 (see all 1282)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0366414
    A colorectal cancer sample4--see VAR_0366412 L R mis40--------
    rs1511977171,2
    --115997047(+) CTGAAA/GCAACA 1 -- us2k10--------
    rs779617261,2
    F--115997051(+) AGCAAC/TAGGTA 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs355795961,2
    C,F--115997090(+) TCATAA/GTCACA 1 -- us2k15Minor allele frequency- G:0.06NA WA 244
    rs1380725691,2
    --115997116(+) ATACC-/TCCCCC 1 -- us2k10--------
    rs597491321,2
    C--115997117(+) TACCT-/CCCCCC 1 -- us2k10--------
    rs714730301,2
    C--115997117(+) TACCT-/CC/CCC
            
    CCCCC
    1 -- us2k12NA CSA 4
    rs70864751,2
    C,F,A,H--115997122(+) CCCCCC/GCCCCC 1 -- us2k1 tfbs3 trp33Minor allele frequency- G:0.02EA NS CSA 180
    rs1836848241,2
    C--115997374(+) GTGGCA/GAGTCC 1 -- us2k10--------
    rs1892343391,2
    --115997428(+) CAGGCA/GTGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VWA2 (115999018 - 116051272 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VWA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2646179CNV Insertion19546169
    dgv826n71CNV Loss21882294
    nsv7211OTHER Inversion18451855

    Site Specific Mutation Identification with 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.)
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    1 disease for VWA2:    
    About MalaCards
    colon cancer


    Find genes that share disorders with VWA2           About GenesLikeMe

    Genetic Association Database (GAD): VWA2
    Human Genome Epidemiology (HuGE) Navigator: VWA2 (1 document)

    Export disorders for VWA2 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 VWA2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with VWA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of AMACO, a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney. (PubMed id 14506275)1, 2, 3, 9 Sengle G.... Wagener R. (J. Biol. Chem. 2003)
    2. Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. (PubMed id 15580307)1, 2, 3, 9 Xin B.... Markowitz S. (Oncogene 2005)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    4. O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein). (PubMed id 18434322)1, 9 Gebauer J.M....Wagener R. (J. Biol. Chem. 2008)
    5. A rapid cloning method employing orthogonal end protection. (PubMed id 22685543)1 Jakobi A.J. and Huizinga E.G. (PLoS ONE 2012)
    6. A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13. (PubMed id 21385852)1 Zhou M....Ding J. (Blood 2011)
    7. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)1 Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)
    8. Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity. (PubMed id 18492952)1 Gao W....Sadler J.E. (Blood 2008)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    10. 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)

    (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: 340706 HGNC: 24709 AceView: AMACO Ensembl:ENSG00000165816 euGenes: HUgn340706
    ECgene: VWA2 H-InvDB: VWA2

    (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 VWA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    (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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