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VWCE Gene

protein-coding   GIFtS: 43
GCID: GC11M061025

Von Willebrand Factor C And EGF Domains

  Search for VWCE
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 C And EGF Domains1 2
URG112 3 5
HBV X Protein Up-Regulated Gene 11 Protein2 3
HBxAg Up-Regulated Gene 11 Protein2 3
VWC12 5
Von Willebrand Factor C And EGF Domain-Containing Protein2

External Ids:    HGNC: 264871   Entrez Gene: 2200012   Ensembl: ENSG000001679927   OMIM: 6111155   UniProtKB: Q96DN23   

Export aliases for VWCE gene to outside databases

Previous GC identifers: GC11M060783 GC11M057353


(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 VWCE Gene:
VWCE (von Willebrand factor C and EGF domains) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
Function: May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of
hapatocellular carcinoma




(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  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWCE gene promoter:
         Sp1   AML1a   Tal-1   AP-4   AP-2gamma   E47   CREB   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWCE promoter sequence
   Search Chromatin IP Primers for VWCE

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


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

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061025:  view genomic region     (about GC identifiers)

Start:
61,025,758 bp from pter      End:
61,062,896 bp from pter
Size:
37,139 bases      Orientation:
minus 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: VWCE_HUMAN, Q96DN2 (See protein sequence)
Recommended Name: von Willebrand factor C and EGF domain-containing protein precursor  
Size: 955 amino acids; 99915 Da
Sequence caution: Sequence=AAO47606.1; Type=Frameshift; Positions=210, 232, 745, 761, 769, 837, 912;
Secondary accessions: A5PKV0 Q7Z7L6 Q86WK8
Alternative splicing: 2 isoforms:  Q96DN2-1   Q96DN2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWCE: NX_Q96DN2

Explore proteomics data for VWCE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn462, Asn472, Ser879, Ser885
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_689931.2  
    ENSEMBL proteins: 
     ENSP00000301770   ENSP00000334186   ENSP00000442570   ENSP00000441565  

    VWCE Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for VWCE 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd_dom
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry Q96DN2

    ProtoNet protein and cluster: Q96DN2

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001007 von Willebrand factor
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 6 VWFC domains


    Find genes that share domains with VWCE           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: VWCE_HUMAN, Q96DN2
    Function: May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of
    hapatocellular carcinoma
    Induction: By HBxAg

         Gene Ontology (GO): 2 molecular function terms:    About this table

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


    Phenotypes:
         1 GenomeRNAi human phenotype for VWCE:
     Decreased viability 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VWCE
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWCE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWCE


    (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
    VWCE_HUMAN, Q96DN2: Secreted (Potential). Note=According to PubMed:16496348 is localized in the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular3
    nucleus3
    plasma membrane3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with VWCE           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 VWCE
    Interactions:

        Search GeneGlobe Interaction Network for VWCE

    (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 VWCE



    (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 VWCE gene: 
    NM_152718.2  

    Unigene Cluster for VWCE:

    Von Willebrand factor C and EGF domains
    Hs.60640  [show with all ESTs]
    Unigene Representative Sequence: NM_152718
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301770 ENST00000335613(uc001nra.3 uc001nrb.3) ENST00000535710
    ENST00000538438 ENST00000398808 ENST00000535599 ENST00000538579
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VWCE
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VWCE
      QuantiTect SYBR Green Assays in human, mouse, rat VWCE
      QuantiFast Probe-based Assays in human, mouse, rat VWCE

    Additional mRNA sequence: 

    AK056571.1 AK299583.1 AK302241.1 BC042143.1 BC052564.1 BC077719.1 BC142624.1 

    5 DOTS entries:

    DT.100778136  DT.207448  DT.207449  DT.100715608  DT.120754830 

    Selected AceView cDNA sequences (see all 54):

    BQ653752 AK056571 BE464430 AA328361 NM_152718 BQ642831 BC042143 BC052564 
    H74100 BM694786 BC077719 BQ066320 CB988642 CD637960 BU731294 CB240652 
    BX371953 BX107538 CD637963 BX283551 BI252025 AW015067 BQ641995 CD637965 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for VWCE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                                            -                                             
    SP2:                                                                                            -     -                                       
    SP3:                                                                                                                                          


    ECgene alternative splicing isoforms for VWCE

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

    VWCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.60640

    UniProtKB/Swiss-Prot: VWCE_HUMAN, Q96DN2
    Tissue specificity: Expressed in liver

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWCE

    (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 VWCE gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwce1 , 5 von Willebrand factor C and EGF domains1, 5 80.76(n)1
    79.29(a)1
      19 (6.87 cM)5
    717681  NM_027913.11  NP_082189.11 
     106342335 
    chicken
    (Gallus gallus)
    Aves VWCE6
    von Willebrand factor C and EGF domains
    58(a)
    1 ↔ 1
    5(406183-412683) ENSGALG00000028882
    lizard
    (Anolis carolinensis)
    Reptilia VWCE6
    von Willebrand factor C and EGF domains
    67(a)
    1 ↔ 1
    GL343235.1(706284-741993)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004882021 fibrillin-3-like 58.35(n)
    54.32(a)
      100488202  XM_002937657.2  XP_002937703.2 
    zebrafish
    (Danio rerio)
    Actinopterygii VWCE6
    von Willebrand factor C and EGF domains
    23(a)
    1 ↔ 1
    22(4193485-4221296) ENSDARG00000087398
    worm
    (Caenorhabditis elegans)
    Secernentea mua-36
    Protein MUA-3, isoform a (mua-3) mRNA, complete cd...
    6(a)
    1 → many
    III(10160690-10183531) WBGene00003482


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWCE gene
    FBN12  EGFL62  NELL22  NELL12  NPNT2  FBN22  FBN32  

    Find genes that share paralogs with VWCE           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for VWCE
    PGOHUM00000260288 PGOHUM00000260289


    (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 VWCE (see all 835)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1395526671,2
    --57392644(+) ATACAA/CAGAAC 1 -- us2k10--------
    rs744008921,2
    C--61025288(-) GCTCCC/AACTTA 1 -- ds50013Minor allele frequency- A:0.17NA 6
    rs122802391,2
    C,H--61025343(+) ctgggG/Ttctat 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 422
    rs1139968721,2
    C--61025470(+) TTTAAC/GTATAT 1 -- ds50010--------
    rs617429211,2
    C,F--61025737(+) GTAAGC/TGGTGA 1 -- ds50011Minor allele frequency- T:0.02NS 60
    rs1425015971,2
    --61025738(+) TAAGCA/GGTGAA 1 -- ds50010--------
    rs1459378551,2
    C--61025921(+) CCAGGC/GAGGAT 1 -- ut310--------
    rs1385036101,2
    --61026017(+) TTCCAC/TCCTCA 1 -- ut310--------
    rs112306481,2
    C,F,H--61026130(+) TCTCCC/TGGACA 1 -- ut31 ese310Minor allele frequency- T:0.01NS EA NA EU 2271
    rs1831147941,2
    C--61026131(+) CTCCCA/GGACAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for VWCE (61025758 - 61062896 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for VWCE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv341CNV Insertion18451855
    nsv509415CNV Insertion20534489
    nsv832177CNV Loss17160897
    esv28446CNV Loss19812545
    nsv428259CNV Gain+Loss18775914
    nsv8834CNV Gain+Loss18304495
    dgv390e1CNV Complex17122850

    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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    OMIM gene information: 611115    OMIM disorders: --


    Find genes that share disorders with VWCE           About GenesLikeMe


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

    1. Enhanced cell survival of Hep3B cells by the hepatitis B x antigen effector, URG11, is associated with upregulation of beta-catenin. (PubMed id 16496348)1, 2 Lian Z.... Feitelson M.A. (Hepatology 2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Upregulated expression of a unique gene by hepatitis B x antigen promotes hepatocellular growth and tumorigenesis. (PubMed id 12869306)1, 3 Lian Z....Feitelson M.A. (Neoplasia 2003)
    4. URG11 promotes gastric cancer growth and invasion by activation of beta-catenin signalling pathway. (PubMed id 19413886)1 Du R....Fan D. (J. Cell. Mol. Med. 2010)
    5. URG11 mediates hypoxia-induced epithelial-to-mesenchymal transition by modulation of E-cadherin and beta-catenin. (PubMed id 19900406)1 Du R....Fan D. (Biochem. Biophys. Res. Commun. 2010)
    6. 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)
    7. 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. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D.... White O. (Nature 1995)

    (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: 220001 HGNC: 26487 AceView: FLJ32009 Ensembl:ENSG00000167992 euGenes: HUgn220001
    ECgene: VWCE H-InvDB: VWCE

    (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 VWCE 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 VWCE gene:
    Search GeneIP for patents involving VWCE

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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