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VWA3A Gene

protein-coding   GIFtS: 40
GCID: GC16P022103

Von Willebrand Factor A Domain Containing 3A

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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 A Domain Containing 3A1 2
Von Willebrand Factor A Domain-Containing Protein 3A2

External Ids:    HGNC: 270881   Entrez Gene: 1461772   Ensembl: ENSG000001752677   UniProtKB: A6NCI43   

Export aliases for VWA3A gene to outside databases

Previous GC identifers: GC16P022015 GC16P020349


(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 VWA3A Gene:
VWA3A (von Willebrand factor A domain containing 3A) is a protein-coding gene. An important paralog of this gene is VWA3B.


(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_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWA3A gene promoter:
         c-Fos   SRY   AP-1   Pbx1a   POU2F1   POU2F1a   FosB   c-Jun   MRF-2   Evi-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for VWA3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWA3A


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.1

VWA3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA3A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P022103:  view genomic region     (about GC identifiers)

Start:
22,103,859 bp from pter      End:
22,168,287 bp from pter
Size:
64,429 bases      Orientation:
plus 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., 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: VWA3A_HUMAN, A6NCI4 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 3A precursor  
Size: 1184 amino acids; 134020 Da
Secondary accessions: A4QMU8 A6NNC0 Q6UTX4 Q6ZQZ9 Q8IUY6 Q8N9W1
Alternative splicing: 4 isoforms:  A6NCI4-1   A6NCI4-2   A6NCI4-3   A6NCI4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA3A: NX_A6NCI4

Explore proteomics data for VWA3A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn709
  • Modification sites at PhosphoSitePlus

  • See VWA3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775886.3  
    ENSEMBL proteins: 
     ENSP00000457368   ENSP00000457770   ENSP00000374049   ENSP00000299840   ENSP00000457167  
     ENSP00000456513   ENSP00000374048  

    VWA3A Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for VWA3A 

     
    antibodies-online peptides for VWA3A

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    Search eBioscience for ELISAs for VWA3A 
    antibodies-online kits for VWA3A (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry A6NCI4

    ProtoNet protein and cluster: A6NCI4

    UniProtKB/Swiss-Prot: VWA3A_HUMAN, A6NCI4
    Similarity: Contains 2 VWFA domains


    Find genes that share domains with VWA3A           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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VWA3A

    miRNA
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    Block miRNA regulation of human, mouse, rat VWA3A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VWA3A (see all 10):
    hsa-miR-31 hsa-miR-4303 hsa-miR-550a hsa-miR-4251 hsa-miR-4312 hsa-miR-520a-5p hsa-miR-3160-3p hsa-miR-525-5p
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    Browse Sino Biological Human cDNA Clones
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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
    VWA3A_HUMAN, A6NCI4: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    cytosol2
    mitochondrion2
    nucleus1
    plasma membrane1

    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 VWA3A           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 VWA3A
    Interactions:

        Search GeneGlobe Interaction Network for VWA3A

    (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 VWA3A



    (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 VWA3A gene (2 alternative transcripts): 
    NM_175059.2  NM_173615.4  

    Unigene Cluster for VWA3A:

    Von Willebrand factor A domain containing 3A
    Hs.10697  [show with all ESTs]
    Unigene Representative Sequence: NM_173615
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562340 ENST00000567131 ENST00000566668 ENST00000568328 ENST00000389398(uc010bxc.2 uc010vbq.2 uc010bxd.3 uc002dkg.4)
    ENST00000299840 ENST00000563389 ENST00000563755 ENST00000389397(uc010bxe.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate VWA3A (see all 10):
    hsa-miR-31 hsa-miR-4303 hsa-miR-550a hsa-miR-4251 hsa-miR-4312 hsa-miR-520a-5p hsa-miR-3160-3p hsa-miR-525-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiTect SYBR Green Assays in human, mouse, rat VWA3A
      QuantiFast Probe-based Assays in human, mouse, rat VWA3A

    Additional mRNA sequence: 

    AK093467.1 AK128606.1 AK307544.1 AY360464.1 BC038400.1 BC109294.1 BC109295.1 

    8 DOTS entries:

    DT.407129  DT.99998669  DT.100019005  DT.120658560  DT.120658938  DT.91923781  DT.120658787  DT.91666892 

    Selected AceView cDNA sequences (see all 32):

    BC038400 BF739772 CB241886 BU684516 AX748144 AA398185 AA781930 CB241369 
    BM998658 BI916787 BX114698 AY360464 AK128606 BE466460 BU683697 AI016658 
    N47075 AI192034 AK098260 AK093467 BI755006 BG570684 BI035585 CD705779 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for VWA3A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^
    SP1:                                                                                                                    -                                       
    SP2:                          -                                               -                                                                                 
    SP3:                                                                                                                                                            
    SP4:              -           -                                                                                                                                 
    SP5:              -                                                                                                                                             

    ExUns: 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for VWA3A

    (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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    VWA3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTTAACTG
    VWA3A Expression
    About this image

    VWA3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWA3A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.10697
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    In Situ
    Assay Products:
     

     
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    (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 chordates.

    Orthologs for VWA3A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa3a1 , 5 von Willebrand factor A domain containing 3A1, 5 79.62(n)1
    73.35(a)1
      7 (64.90 cM)5
    2338131  NM_177697.31  NP_808365.21 
     1207395575 
    chicken
    (Gallus gallus)
    Aves VWA3A1 von Willebrand factor A domain containing 3A 61.34(n)
    56.46(a)
      416616  XM_414917.4  XP_414917.4 
    lizard
    (Anolis carolinensis)
    Reptilia VWA3A6
    von Willebrand factor A domain containing 3A
    51(a)
    1 ↔ 1
    GL343846.1(113512-145914)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vwa3a1 von Willebrand factor A domain containing 3A 60.19(n)
    53.77(a)
      100490749  XM_002931981.2  XP_002932027.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005358021 von Willebrand factor A domain-containing protein 3A-like 54.61(n)
    44.04(a)
      100535802  XM_003198187.2  XP_003198235.2 


    ENSEMBL Gene Tree for VWA3A (if available)
    TreeFam Gene Tree for VWA3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VWA3A gene
    VWA3B2  
    1 SIMAP similar gene for VWA3A using alignment to 5 protein entries:     VWA3A_HUMAN (see all proteins):
    VWA3B

    Find genes that share paralogs with VWA3A           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 VWA3A (see all 1249)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842854171,2
    --22102308(+) GAAGCA/GAAGAA 1 -- us2k10--------
    rs1891861101,2
    --22102546(+) AATGCC/TGTGGT 1 -- us2k10--------
    rs1916147141,2
    --22102607(+) CTATTG/TTGAGC 1 -- us2k10--------
    rs1848881431,2
    --22102614(+) GAGCAC/TGTTGG 1 -- us2k10--------
    rs1896096481,2
    --22103060(+) ATTCTC/TAGAAA 1 -- us2k10--------
    rs1815352281,2
    --22103124(+) TTAGCA/GACTTA 1 -- us2k10--------
    rs1868476021,2
    --22103131(+) CTTACA/GAGTTG 1 -- us2k10--------
    rs801350261,2
    C,F--22103255(+) TTAAAA/CAGTCA 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs735339851,2
    C,F--22103307(+) TGGGAA/TTGTTT 1 -- us2k12Minor allele frequency- T:0.13WA 120
    rs740121971,2
    C,F--22103331(+) TCCAGG/ATGATT 1 -- us2k13Minor allele frequency- A:0.15WA CSA 122

    HapMap Linkage Disequilibrium report for VWA3A (22103859 - 22168287 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for VWA3A (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714075CNV Deletion23290073
    esv2714070CNV Deletion23290073
    esv2714073CNV Deletion23290073
    nsv435668CNV Deletion17901297
    dgv48n16CNV Insertion17901297
    nsv498860CNV Loss21111241
    nsv1764CNV Loss18451855
    dgv2647n71CNV Loss21882294
    nsv905598CNV Gain21882294
    nsv519813CNV Gain+Loss19592680

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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 VWA3A           About GenesLikeMe

    Genetic Association Database (GAD): VWA3A

    Export disorders for VWA3A 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 VWA3A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with VWA3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. 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)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    5. 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)
    6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)
    7. (PubMed id )2 

    (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: 146177 HGNC: 27088 AceView: LOC146177 Ensembl:ENSG00000175267 euGenes: HUgn146177
    ECgene: VWA3A H-InvDB: VWA3A

    (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 VWA3A 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 VWA3A gene:
    Search GeneIP for patents involving VWA3A

    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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