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

VWDE Gene

protein-coding   GIFtS: 36
GCID: GC07M012338

von Willebrand factor D and EGF domains

  Search for VWDE
in our new
 Human Malady Compendium 
Biological research products
for VWDE
    

(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 D And EGF Domains1 2
FLJ147121
Von Willebrand Factor D And EGF Domain-Containing Protein2

External Ids:    HGNC: 218971   Entrez Gene: 2218062   Ensembl: ENSG000001465307   UniProtKB: Q8N2E23   

Export aliases for VWDE gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWDE gene promoter:
         Sox5   FOXF2   SRF (504 AA)   MEF-2   FOXD1   HNF-3beta   MEF-2A   SRY   Sox9   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for VWDE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWDE


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p21.3

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M012338:  view genomic region     (about GC identifiers)

Start:
12,370,509 bp from pter      End:
12,443,852 bp from pter
Size:
73,344 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 12,423,482-12,496,820     

(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: VWDE_HUMAN, Q8N2E2 (See protein sequence)
Recommended Name: von Willebrand factor D and EGF domain-containing protein precursor  
Size: 1590 amino acids; 176780 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=BAB55237.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC11671.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=EAW93644.1; Type=Erroneous gene
model prediction;
Secondary accessions: Q96SQ3

Explore the universe of human proteins at neXtProt for VWDE: NX_Q8N2E2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N2E2

  • VWDE Protein expression data from MOPED and PaxDb:    About this image 
    VWDE Protein Expression
    REFSEQ proteins: NP_001129396.1  
    ENSEMBL proteins: 
     ENSP00000275358   ENSP00000428810   ENSP00000401687   ENSP00000317143  

    Human Recombinant Protein Products for VWDE: 
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    Uscn Proteins for VWDE

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

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

    VWDE 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

    VWDE for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR001846 VWF_type-D

    Graphical View of Domain Structure for InterPro Entry Q8N2E2

    ProtoNet protein and cluster: Q8N2E2

    UniProtKB/Swiss-Prot: VWDE_HUMAN, Q8N2E2
    Similarity: Contains 7 EGF-like domains
    Similarity: Contains 1 VWFD 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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for VWDE 

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    (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 VWDE

    (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 VWDE
    Search CenterWatch for drugs/clinical trials and news about VWDE 

    (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,
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    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 VWDE gene: 
    NM_001135924.1  

    Unigene Cluster for VWDE:

    Von Willebrand factor D and EGF domains
    Hs.669526  [show with all ESTs]
    Unigene Representative Sequence: BC144316
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275358 ENST00000485526 ENST00000521169(uc011jxm.1) ENST00000452576(uc003ssj.2 uc011jxl.1)
    ENST00000326715

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    hsa-miR-3671 hsa-miR-361-5p hsa-miR-876-5p hsa-miR-3074-3p hsa-miR-619 hsa-miR-3167
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AK027618.1 BC144316.1 BC144319.1 

    5 DOTS entries:

    DT.70104089  DT.100721192  DT.40276112  DT.121100373  DT.91804215 

    4 AceView cDNA sequences:

    CD656912 AA083940 AK075525 AA083838 

    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

    VWDE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    VWDE Expression
    About this image
    See VWDE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWDE

    SOURCE GeneReport for Unigene cluster: Hs.669526
        SABiosciences Custom PCR Arrays for VWDE

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWDE

    (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 VWDE gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwde1 , 5 von Willebrand factor D and EGF domains1, 5 79.06(n)1
    73.36(a)1
      6 (5.64 cM)5
    2325851  NM_001013757.21  NP_001013779.21 
     131856135 
    chicken
    (Gallus gallus)
    Aves VWDE1 von Willebrand factor D and EGF domains 68.76(n)
    62.31(a)
      420587  XM_418688.3  XP_418688.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    59(a)
    44(a)
    possible ortholog
    1 ↔ 1
    6(25702126-25724015)
    1(98982778-99112762)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000066811 von Willebrand factor D and EGF domain-containing protein-like 59.02(n)
    54.31(a)
      100006681  XM_001345324.3  XP_001345360.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWDE gene
    TENM22  WIF12  TENM12  TENM42  TENM32  
    5 SIMAP similar genes for VWDE using alignment to 4 protein entries:     VWDE_HUMAN (see all proteins):
    CUBN    WIF1    PROS1    NTNG1    SNED1

    VWDE 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

    10/1726 NCBI SNPs in VWDE are shown (see all 1726    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1914696191,2
    --12370016(+) TGCCAC/TTTTTT 1 -- ds50010--------
    rs38324921,2
    C--12370030(-) ATTCCC/-AGCCT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs792044161,2
    C,F--12370286(+) GGGAAA/CGCCTC 1 -- ds50011Minor allele frequency- C:0.08WA 118
    rs745528341,2
    C,F--12370301(+) AAGAAC/GCTGCT 1 -- ds50011Minor allele frequency- G:0.07WA 118
    rs736799731,2
    C--12370352(+) TCAGCG/AGTGGC 1 -- ds50012Minor allele frequency- A:0.08WA 120
    rs797066851,2
    --12370357(+) GGTGGC/GTTTCC 1 -- ds50012Minor allele frequency- G:0.02CSA WA 120
    rs1824464321,2
    --12370358(+) GTGGCC/TTTCCT 1 -- ds50010--------
    rs37351801,2
    C,F,A--12370369(-) AGCTAG/CAGGTT 1 -- ds500112Minor allele frequency- C:0.34EA NA WA CSA 1862
    rs1391682381,2
    C--12370406(+) TACTT-/AACTTC 1 -- ds50010--------
    rs781212611,2
    C,F--12370415(+) TCTGTG/AAGCCC 1 -- ds50012Minor allele frequency- A:0.04WA EA 238

    HapMap Linkage Disequilibrium report for VWDE (12370509 - 12443852 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VWDE: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VWDE for disorders           About MalaCards

    VWDE for disorders           About GeneDecksing

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

    Export disorders for VWDE 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 VWDE gene integrated from 9 sources:
    (articles sorted by number of sources associating them with VWDE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2, 3 Otsuki T....Isogai T. (2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    5. 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. (2002)

    (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: 221806 HGNC: 21897 AceView: FLJ14712.1 Ensembl:ENSG00000146530 euGenes: HUgn221806
    ECgene: VWDE H-InvDB: VWDE

    (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 VWDE 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 VWDE gene:
    Search GeneIP for patents involving VWDE

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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