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

VWA2 Gene

protein-coding   GIFtS: 43
GCID: GC10P115990

Von Willebrand Factor A Domain Containing 2

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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)
About This Section

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

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, and adenoma. GO annotations related to this gene include identical protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VWA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Secreted
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

Post-translational modifications:

  • UniProtKB: A 55 kDa form is produced by proteolytic cleavage
  • View neXtProt modification sites for NX_Q5GFL6

  • VWA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001258975.1  
    ENSEMBL proteins: 
     ENSP00000376708   ENSP00000473752  

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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005604basement membrane ----

    VWA2 for ontologies           About GeneDecksing



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


    VWA2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
    GO:0042802identical protein binding ----
         
    VWA2 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VWA2

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    VWA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 VWA2

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate VWA2:
    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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    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:

    AW206492 BX956774 AJ536328 AK127756 AJ616914 AK122716 NM_198496 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™, 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

    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


    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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA2

    (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 VWA2 gene from 5/10 species (see all 10)    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 81.56(n)1
    80.43(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 65.15(n)
    60.06(a)
      423907  XM_421769.3  XP_421769.3 
    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 58.89(n)
    50.29(a)
      567428  XM_690723.4  XP_695815.4 


    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)
    About This Section
    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

    VWA2 for paralogs           About GeneDecksing



    (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) 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

    10/1282 SNPs in VWA2 are shown (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

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for VWA2:    About MalaCards
    colon cancer    adenoma    alzheimer's disease


    VWA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for VWA2 gene, integrated from 9 sources (see all 15):
    (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. (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. (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. (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. (2008)
    5. A rapid cloning method employing orthogonal end protec tion. (PubMed id 22685543)1 Jakobi A.J. and Huizinga E.G. (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. (2011)
    7. Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity. (PubMed id 18492952)1 Gao W....Sadler J.E. (2008)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family. (PubMed id 15699509)1 Eller E....Fain P.R. (2004)

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

    (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 VWA2 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 VWA2 gene:
    Search GeneIP for patents involving VWA2

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
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     Regulatory tfbs in VWA2 promoter
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     Browse Proteins at Cloud-Clone Corp.
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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