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VWA2 Gene

protein-coding   GIFtS: 40

GC10P109626
von Willebrand factor A domain containing 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
von Willebrand factor A domain containing 21 2     FLJ162131
AMACO1 2 3     colon cancer diagnostic marker2
CCSP-21 2 3     von Willebrand factor A domain-containing protein 22
NET421 2     A-domain containing protein similar to matrilin and collagen2
Colon cancer secreted protein 22 3     MGC1577552
A domain-containing protein similar to matrilin and collagen2 3     colon cancer secreted protein-22
FLJ458571     

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

Export aliases for VWA2 gene to outside databases

Previous GC identifer: GC10P115990


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

  --

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWA2 gene promoter:
         FOXD3   USF1   STAT5A   FOXD1   p53   FAC1   Max1   c-Myc   Pax-5   E47   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for VWA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P109626:  view genomic region     (about GC identifiers)

Start:
109,626,103 bp from pter
End:
109,677,314 bp from pter
Size:
51,212 bases
Orientation:
plus strand

1 alternative location:
Chr10+ 115,999,089-116,051,272     
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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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)
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   

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

Post-translational modifications:

  • A 55 kDa form is produced by proteolytic cleavage1


  • REFSEQ proteins: NP_940898.1  

    ENSEMBL proteins: 
    ENSP00000298715 ENSP00000376708 


    Human Recombinant Proteins 
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    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    About this table

    VWA2 for ontologies           About GeneDecksing



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

    VWA2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000742 EGF_3
     IPR006209 EGF
     IPR006210 EGF-like
     IPR013032 EGF-like_reg_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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
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    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): VWA2
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    OriGene basic RS shRNA (see all 2): VWA2
    OriGene siRNA (see all 2): VWA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VWA2 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VWA2 
    1 SABiosciences Assays for microRNA that regulate VWA2:
    hsa-miR-513c

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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    OriGene GFP tagged cDNA clones in CMV expression vector: VWA2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: VWA2
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    OriGene 3'-UTR clone: VWA2 
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    Cell
    Lines:
      
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    2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509 calcium ion binding ----
    GO:0042802 identical protein binding IEA--
    About this table

    VWA2 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for VWA2 

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

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VWA2


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for VWA2
    Sigma-Aldrich shRNA for VWA2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): VWA2
    OriGene shRNA RFP (see all 2): VWA2
    OriGene basic RS shRNA (see all 2): VWA2
    OriGene siRNA (see all 2): VWA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of VWA2 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of VWA2 
    1 SABiosciences Assays for microRNA that regulate VWA2:
    hsa-miR-513c
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: VWA2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: VWA2
    OriGene untagged cDNA clones in CMV expression vector: VWA2
    OriGene 3'-UTR Clone: VWA2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: VWA2 
    Primers: OriGene genome-wide validated SYBR primer pairs: VWA2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VWA2: PPH23063A

    REFSEQ mRNAs for VWA2 gene: 

    NM_198496.1  

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.75140981  DT.101980447  DT.101964591 

    8 AceView cDNA sequences:

    BX956774 AW206492 AJ536328 AK127756 NM_198496 AJ616914 AK122716 AW855319 

    highest scoring ESTs for VWA2:

    AW206492 AJ536328 AK122716 AK127756 AW856235 BE143292 BF849816 BX956774 NM_198496 AW855319 

    Unigene Cluster for VWA2:

    Von Willebrand factor A domain containing 2
    Hs.197741  [show with all ESTs]
    Unigene Representative Sequence: AY572972


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298715(uc001lbk.1 uc009xyf.1) ENST00000392982(uc001lbl.1)


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    VWA2 expression in normal and diseased human tissues

    1 Data from GNF BioGPS
        About these images

    VWA2 gene expression
    VWA2 gene electronic northern expression
    VWA2 gene sage expression
    About these images

    CGAP SAGE TAG: CTCACATAAA

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: VWA2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for VWA2: PPH23063A
        SABiosciences Custom PCR Arrays for VWA2 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for VWA2 gene from 5/6 species (see all 6)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    VWA21   -- von Willebrand factor A domain containing 2 85.48(n)
    82.46(a)
    477827  XM_535021.2  XP_535021.2 
    cow
    (Bos taurus)
    VWA21   -- von Willebrand factor A domain containing 2 82.68(n)
    79.78(a)
    530237  XM_608702.3  XP_608702.3 
    mouse
    (Mus musculus)
    Vwa21 , 5 19 (52.02 cM)5
    von Willebrand factor A domain containing 21, 5 81.56(n)1
    80.43(a)1
    2406751  NM_172840.21  NP_766428.21 
     AJ5363295  AK0292975  (see all 13)
    chicken
    (Gallus gallus)
    VWA21   -- von Willebrand factor A domain containing 2 65.15(n)
    60.06(a)
    423907  XM_421769.2  XP_421769.2 
    zebrafish
    (Danio rerio)
    LOC5674281   -- similar to von Willebrand factor A domain-containing more 58.94(n)
    50.79(a)
    567428  XM_690723.2  XP_695815.2 
    About this table        Species with no ortholog for VWA2

    ENSEMBL Gene Tree for VWA2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for VWA2 gene
    MATN22  VIT2  COCH2  MATN42  MATN32  MATN12  

    VWA2 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/518 NCBI SNPs in VWA2 are shown (see all 518)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs4765251,2
    C,F,A,116034874(+) ggtcAC/Tctagg 1 -- int18Minor allele frequency- T:0.19NS EA NA WA 624
    rs4853051,2
    C,F,116048045(+) ccctgC/Attttc 1 -- int1 trp39Minor allele frequency- A:0.02NS EA NA 834
    rs4892621,2
    C,F,A,H,116018945(-) tgtttT/Acgggg 1 -- int112Minor allele frequency- A:0.44NS EA NA WA 638
    rs5269301,2
    C,F,O,A,H,116025322(+) ATCCAA/GTAGGC 1 -- int115Minor allele frequency- G:0.43NS EA NA WA 782
    rs5382621,2
    --116002358(+) TCTCTC/GTGTAC 1 -- int10--------
    rs5399461,2
    C,F,H,116046579(+) TTATTA/GTTGTT 1 -- int118Minor allele frequency- G:0.07NS EA NA WA 1052
    rs5406091,2
    C,F,A,H,116040001(+) cactgA/Ggggcc 1 -- int110Minor allele frequency- G:0.25NS EA NA WA 634
    rs5722081,2
    C,F,O,A,H,116019598(-) ACACAT/CTGGGG 1 -- int113Minor allele frequency- C:0.19MN NS EA NA 1128
    rs5727341,2
    --116041208(+) GGGCCC/TTAAGT 1 -- int10--------
    rs5738001,2
    --116041359(+) CAGACC/TTGAGA 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for VWA2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for VWA2
         1 Indel: 101047

    QIAGEN SeqTarget long-range PCR primers for resequencing VWA2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VWA2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: VWA2 (1 document)

    Export disorders and mutations for VWA2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/11 PubMed articles for VWA2 gene, integrated from 7 sources (see all 11):
    (articles sorted by number of sources associating them with VWA2)
    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, 7 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, 7 Xin B.... Markowitz S. (2005)
    3. 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, 7 Gebauer J.M....Wagener R. (2008)
    4. 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)
    5. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    6. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    7. 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)
    8. 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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, 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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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    About This Section

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     Regulatory tfbs in VWA2 promoter
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    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    VWA2 gene at Home site.
    hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4