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VWDE Gene

protein-coding   GIFtS: 37
GCID: GC07M012338

Von Willebrand Factor D And EGF Domains

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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)
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Aliases
Von Willebrand Factor D And EGF Domains1 2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for VWDE Gene:
VWDE (von Willebrand factor D and EGF domains) is a protein-coding gene. An important paralog of this gene is TENM2.


(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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Regulatory elements:
   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 Chromatin IP Primers for VWDE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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: VWDE_HUMAN, Q8N2E2 (See protein sequence)
Recommended Name: von Willebrand factor D and EGF domain-containing protein precursor  
Size: 1590 amino acids; 176780 Da
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

Explore proteomics data for VWDE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn367, Asn703, Asn968

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

    REFSEQ proteins: NP_001129396.1  
    ENSEMBL proteins: 
     ENSP00000275358   ENSP00000428810   ENSP00000401687   ENSP00000317143  

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    antibodies-online kits for VWDE (4 products) 


    (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
     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


    Find genes that share domains with VWDE           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): 2 molecular function terms:    About this table

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


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

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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
    VWDE_HUMAN, Q8N2E2: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with VWDE           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 VWDE
    Interactions:

        Search GeneGlobe Interaction Network for VWDE

    (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 VWDE



    (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 VWDE gene: 
    NM_001135924.1  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275358 ENST00000485526 ENST00000521169(uc011jxm.1) ENST00000452576(uc003ssj.2 uc011jxl.1)
    ENST00000326715
    miRNA
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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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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat VWDE
      QuantiFast Probe-based Assays in human, mouse, rat VWDE

    4 AceView cDNA sequences:

    CD656912 AA083940 AA083838 AK075525 

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


    VWDE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    VWDE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWDE Protein Expression
        Custom PCR Arrays for VWDE
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    In Situ
    Assay Products:
     

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

    Orthologs for VWDE gene from Selected species (see all 14)    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 68.93(n)
    62.19(a)
      420587  XM_418688.4  XP_418688.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    76(a)
    60(a)
    1 ↔ many
    1 ↔ many
    6(25679049-25694911)
    6(25702126-25724015)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vwde1 von Willebrand factor D and EGF domains 64.75(n)
    59.17(a)
      100495432  XM_002939011.2  XP_002939057.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000066811 von Willebrand factor D and EGF domain-containing protein-like 58.73(n)
    53.78(a)
      100006681  XM_001345324.4  XP_001345360.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta shf6
    shifted
    26(a)
    1 → many
    X(6665477-6673692)
    worm
    (Caenorhabditis elegans)
    Secernentea T01D3.16
    Protein T01D3.1, isoform b
    8(a)
    1 → many
    V(13689892-13703326) WBGene00011326


    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)
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    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

    Find genes that share paralogs with VWDE           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 VWDE (see all 1949)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1873892081,2
    Cuntested112397065(+) GCCACA/GAACTG 2 F syn10--------
    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,F--12370352(+) TCAGCG/AGTGGC 1 -- ds50012Minor allele frequency- A:0.08WA 120
    rs797066851,2
    F--12370357(+) GGTGGC/GTTTCC 1 -- ds50012Minor allele frequency- G:0.02CSA WA 120
    rs1824464321,2
    C--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--------

    HapMap Linkage Disequilibrium report for VWDE (12370509 - 12443852 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for VWDE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv464374CNV Loss19166990
    nsv887635CNV Loss21882294
    dgv7191n71CNV Loss21882294
    dgv7193n71CNV Loss21882294
    nsv516511CNV Loss19592680
    nsv470044CNV Loss18288195
    nsv464371CNV Gain19166990
    dgv7192n71CNV Gain21882294
    nsv887634CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing VWDE
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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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    Find genes that share disorders with VWDE           About GenesLikeMe

    Genetic Association Database (GAD): VWDE
    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)
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    PubMed articles for VWDE gene integrated from 10 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. (DNA Res. 2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    5. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. (PubMed id 23006423)1 Niu N....Wang L. (BMC Cancer 2012)
    6. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)4 Meigs J.B....Dupuis J. (BMC Med. Genet. 2007)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    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)

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

    (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 VWDE 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 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, 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
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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