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

VWA3A Gene

protein-coding   GIFtS: 38
GCID: GC16P022103

Von Willebrand Factor A Domain Containing 3A

  Search for VWA3A
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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VWA3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: VWA3A_HUMAN, A6NCI4 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 3A precursor  
Size: 1184 amino acids; 134020 Da
Subcellular location: Secreted (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NCI4

  • VWA3A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VWA3A Protein Expression
    REFSEQ proteins: NP_775886.3  
    ENSEMBL proteins: 
     ENSP00000457368   ENSP00000457770   ENSP00000374049   ENSP00000299840   ENSP00000457167  
     ENSP00000456513   ENSP00000374048  

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    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--

    VWA3A 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
    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


    VWA3A 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for VWA3A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VWA3A 
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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 VWA3A

    (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 VWA3A

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 VWA3A gene (2 alternative transcripts): 
    NM_175059.2  NM_173615.3  

    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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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for VWA3A
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VWA3A
    Sirion Biotech Customized lentivirus for stable overexpression of VWA3A 
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    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 

    24/32 AceView cDNA sequences (see all 32):

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

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


    VWA3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See VWA3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWA3A

    SOURCE GeneReport for Unigene cluster: Hs.10697
        SABiosciences Custom PCR Arrays for VWA3A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA3A

    (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 VWA3A gene from 4/11 species (see all 11)    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 60.76(n)
    55.86(a)
      416616  XM_414917.3  XP_414917.3 
    lizard
    (Anolis carolinensis)
    Reptilia VWA3A6
    von Willebrand factor A domain containing 3A
    50(a)
    1 ↔ 1
    GL343846.1(113512-145914)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005358021 von Willebrand factor A domain-containing protein 3A-like 49.61(n)
    40.23(a)
      100535802  XM_003198187.1  XP_003198235.1 


    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)
    About This Section
    Paralogs for VWA3A gene
    VWA3B2  
    1 SIMAP similar gene for VWA3A using alignment to 5 protein entries:     VWA3A_HUMAN (see all proteins):
    VWA3B

    VWA3A for paralogs           About GeneDecksing



    (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

    10/1249 SNPs in VWA3A are shown (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) 10/18 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    VWA3A for disorders           About MalaCards

    VWA3A for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for VWA3A gene integrated from 9 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. (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. (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. (2006)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (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. (2004)
    6. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 146177 HGNC: 27088 AceView: LOC146177 Ensembl:ENSG00000175267 euGenes: HUgn146177
    ECgene: VWA3A H-InvDB: VWA3A

    (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 VWA3A 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 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, 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
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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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