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

VWA8 Gene

protein-coding   GIFtS: 39
GCID: GC13M042141

Von Willebrand Factor A Domain Containing 8

(Previous name: KIAA0564)
(Previous symbol: KIAA0564)
  See related diseases
at  

(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 81 2
KIAA05641 2 3
Von Willebrand Factor A Domain-Containing Protein 82

External Ids:    HGNC: 290711   Entrez Gene: 230782   Ensembl: ENSG000001027637   UniProtKB: A3KMH13   

Export aliases for VWA8 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

GeneCards Summary for VWA8 Gene: 
VWA8 (von Willebrand factor A domain containing 8) is a protein-coding gene. Diseases associated with VWA8 include migraine, and bipolar disorder. GO annotations related to this gene include ATPase activity and ATP binding.


(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_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for VWA8
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWA8 promoter sequence
   Search SABiosciences Chromatin IP Primers for VWA8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA8


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

Entrez Gene cytogenetic band: 13q14.11   Ensembl cytogenetic band:  13q14.11   HGNC cytogenetic band: 13q14.11

VWA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA8 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M042141:  view genomic region     (about GC identifiers)

Start:
42,140,961 bp from pter      End:
42,535,256 bp from pter
Size:
394,296 bases      Orientation:
minus 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: VWA8_HUMAN, A3KMH1 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 8 precursor  
Size: 1905 amino acids; 214824 Da
Subcellular location: Secreted (Potential)
Secondary accessions: O60310 Q5JTP6 Q5VW08 Q7Z6I9 Q86YC9 Q8N3E4
Alternative splicing: 3 isoforms:  A3KMH1-1   A3KMH1-2   A3KMH1-3   (Incomplete sequence)

Explore the universe of human proteins at neXtProt for VWA8: NX_A3KMH1

Explore proteomics data for VWA8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A3KMH1

  • VWA8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VWA8 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001009814.1  NP_055873.1  

    ENSEMBL proteins: 
     ENSP00000368612   ENSP00000281496  

    Human Recombinant Protein Products for VWA8: 
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    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:0005739mitochondrion IEA--

    VWA8 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
    4 InterPro protein domains:
     IPR011704 ATPase_dyneun-rel_AAA
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry A3KMH1

    ProtoNet protein and cluster: A3KMH1

    UniProtKB/Swiss-Prot: VWA8_HUMAN, A3KMH1
    Similarity: Contains 1 VWFA domain


    VWA8 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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    VWA8 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 VWA8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for VWA8 (A3KMH13 ENSP000003686124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KEAP1Q141453, ENSP000001711114I2D: score=2 STRING: ENSP00000171111
    MEGF10Q96KG73, ENSP000002744734I2D: score=2 STRING: ENSP00000274473
    About this table

    (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 VWA8

    Search CenterWatch for drugs/clinical trials and news about VWA8

    (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,
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    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 VWA8 gene (2 alternative transcripts): 
    NM_001009814.1  NM_015058.1  

    Unigene Cluster for VWA8:

    Von Willebrand factor A domain containing 8
    Hs.368282  [show with all ESTs]
    Unigene Representative Sequence: NM_015058
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379310(uc001uyj.3) ENST00000478987 ENST00000281496(uc001uyk.3)
    ENST00000379302
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB011136.1 AK025432.1 AK095155.1 AK308568.1 AL834181.1 BC042924.2 BC053674.1 BC131802.1 

    9 DOTS entries:

    DT.117201  DT.100783866  DT.100739223  DT.75137661  DT.117200  DT.91759149  DT.92018050  DT.120793988 
    DT.120794008 

    24/137 AceView cDNA sequences (see all 137):

    F10476 BU167495 AA322520 AW611936 BU676125 AV682493 AA330072 AI540219 
    AW512241 CK819248 BE222744 BU623187 BX281424 BC053674 AI039391 AI478249 
    BM128258 BQ774199 AI628124 AI332568 AI300333 AI003544 BU178214 AL834181 

    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

    VWA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    VWA8 Expression
    About this image


    See VWA8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWA8

    SOURCE GeneReport for Unigene cluster: Hs.368282
        SABiosciences Custom PCR Arrays for VWA8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA8

    (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 animals.

    Orthologs for VWA8 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa81 , 5 RIKEN cDNA 1300010F03 gene5
    von Willebrand factor A domain containing 81
    83.33(n)1
    86.24(a)1
      14 (41.90 cM)5
    2191891  NM_027906.11  NP_082182.11 
     788491785 
    chicken
    (Gallus gallus)
    Aves KIAA05641 KIAA0564 74.78(n)
    78.97(a)
      428066  XM_425624.3  XP_425624.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    86(a)
    75(a)
    many → 1
    many → 1
    3(70516751-70533388)
    3(70423023-70476728)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684852 hypothetical protein MGC68485 76.74(n)    BC059997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vwa81 von Willebrand factor A domain containing 8 67.13(n)
    71.9(a)
      561317  NM_001128338.1  NP_001121810.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta c12.21 CG12149-PA 54.7(n)
    53.91(a)
      53434  NM_144347.2  NP_652604.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F11C1.51 Protein F11C1.5 48.91(n)
    40.96(a)
      181431  NM_077759.3  NP_510160.2 


    ENSEMBL Gene Tree for VWA8 (if available)
    TreeFam Gene Tree for VWA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWA8 gene

    VWA8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VWA8
    PGOHUM00000235248


    (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

    10/7397 SNPs in VWA8 are shown (see all 7397)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454706511,2
    Cuntested130455592(+) TGAAGA/C/GAATCT 2 F syn11NA 4548
    rs1164586361,2
    C,F--22941405(+) GGGCGT/CGGGAC 1 -- ds50011Minor allele frequency- C:0.04WA 118
    rs734629991,2
    C,F--22941434(+) ATTAAG/CGGGCC 1 -- ds50013Minor allele frequency- C:0.08WA CSA 121
    rs1435092821,2
    --22941804(+) GGATTA/GAAATT 1 -- ds50010--------
    rs81818101,2
    C,F,A,H--22941885(+) TCACCA/GGGTAG 1 -- ds500117Minor allele frequency- G:0.37NS EA NA WA CSA 931
    rs1843858181,2
    --22941898(+) CCACGC/TTGGAA 1 -- ut310--------
    rs1890429201,2
    C--22942114(+) CCTAAC/TGTTTC 1 -- ut310--------
    rs1820910671,2
    --22942161(+) TTATAA/TGGTTA 1 -- ut310--------
    rs1854804171,2
    C--22942435(+) TTTTCA/GTGTAA 1 -- ut310--------
    rs793147741,2
    C,F--22942599(+) CTTTAA/GGAGCC 1 -- ut311Minor allele frequency- G:0.04WA 118

    HapMap Linkage Disequilibrium report for VWA8 (42140961 - 42390961 bp, first 250kb of VWA8)

    Structural Variations
          Database of Genomic Variants (DGV) variations for VWA8: --

    Human Gene Mutation Database (HGMD): VWA8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing VWA8
    DNA2.0 Custom Variant and Variant Library Synthesis for VWA8

    (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
    2 diseases for VWA8:    About MalaCards
    migraine    bipolar disorder


    VWA8 for disorders           About GeneDecksing


    Export disorders for VWA8 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 VWA8 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with VWA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. A genome-wide association study of bipolar disorder a nd comorbid migraine. (PubMed id 20528957)1 Oedegaard K.J.... J.R. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. A genome-wide scan for common alleles affecting risk for autism. (PubMed id 20663923)1 Anney R....Hallmayer J. (2010)
    6. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (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: 23078 HGNC: 29071 AceView: KIAA0564 Ensembl:ENSG00000102763 euGenes: HUgn23078
    ECgene: VWA8 H-InvDB: VWA8

    (According to HUGE)
    About This Section
    HUGE: KIAA0564

    (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 VWA8 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 VWA8 gene:
    Search GeneIP for patents involving VWA8

    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

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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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