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VWA3A Gene(Protein Coding)

Von Willebrand Factor A Domain Containing 3A

GCID:
GC16P022103
GIFtS:
41
Genes Participants
UDN Logo

Aliases for VWA3A Gene

Aliases for VWA3A Gene

  • Von Willebrand Factor A Domain Containing 3A 2 3 5

External Ids for VWA3A Gene

Previous GeneCards Identifiers for VWA3A Gene

  • GC16P022015
  • GC16P020349

Summaries for VWA3A Gene

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA3A Gene

Genomics for VWA3A Gene

Products:

  1. Regulatory Element

Regulatory Elements for VWA3A Gene

Enhancers for VWA3A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around VWA3A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the VWA3A gene promoter:

Genomic Location for VWA3A Gene

Chromosome:
16
Start:
22,091,914 bp from pter
End:
22,156,966 bp from pter
Size:
65,053 bases
Orientation:
Plus strand

Genomic View for VWA3A Gene

Genes around VWA3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA3A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VWA3A Gene

Proteins for VWA3A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for VWA3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCI4-VWA3A_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 3A
    Protein Accession:
    A6NCI4
    Secondary Accessions:
    • A4QMU8
    • A6NNC0
    • Q6UTX4
    • Q6ZQZ9
    • Q8IUY6
    • Q8N9W1

    Protein attributes for VWA3A Gene

    Size:
    1184 amino acids
    Molecular mass:
    134020 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VWA3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA3A Gene

Proteomics data for VWA3A Gene at MOPED

Protein Expression for VWA3A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VWA3A Gene

  • Glycosylation at Asn 709
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA3A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VWA3A Gene

Domains & Families for VWA3A Gene

Protein Domains for VWA3A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VWA3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NCI4

UniProtKB/Swiss-Prot:

VWA3A_HUMAN :
  • Contains 2 VWFA domains.
Domain:
  • Contains 2 VWFA domains.
genes like me logo Genes that share domains with VWA3A: view

No data available for Gene Families for VWA3A Gene

Function for VWA3A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Phenotypes for VWA3A Gene

GenomeRNAi human phenotypes for VWA3A:
genes like me logo Genes that share phenotypes with VWA3A: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for VWA3A Gene

Localization for VWA3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA3A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWA3A Gene COMPARTMENTS Subcellular localization image for VWA3A gene
Compartment Confidence
extracellular 3
cytosol 2
mitochondrion 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for VWA3A Gene

Pathways & Interactions for VWA3A Gene

SuperPathways for VWA3A Gene

PathCards logoMore details on SuperPathways for VWA3A
No Data Available

Interacting Proteins for VWA3A Gene

Gene Ontology (GO) - Biological Process for VWA3A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA3A Gene

Drugs & Compounds for VWA3A Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for VWA3A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for VWA3A Gene

(8) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VWA3A Gene

Von Willebrand factor A domain containing 3A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA3A Gene

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:

Relevant External Links for VWA3A Gene

GeneLoc Exon Structure for
VWA3A
ECgene alternative splicing isoforms for
VWA3A

Expression for VWA3A Gene

Products:

  1. Primer

mRNA expression in normal human tissues for VWA3A Gene

mRNA expression in normal human tissues for VWA3A Gene
mRNA expression by BioGPS for VWA3A GenemRNA expression by GTEx for VWA3A Gene

mRNA differential expression in normal tissues according to GTEx for VWA3A Gene

This gene is overexpressed in Cervix - Endocervix (x8.9), Pituitary (x8.7), and Fallopian Tube (x5.2).

Protein differential expression in normal tissues from HIPED for VWA3A Gene

This gene is overexpressed in Plasma (39.2), Serum (21.6), and Seminal vesicle (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VWA3A Gene



SOURCE GeneReport for Unigene cluster for VWA3A Gene Hs.10697

genes like me logo Genes that share expression patterns with VWA3A: view

Protein tissue co-expression partners for VWA3A Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for VWA3A Gene

Orthologs for VWA3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for VWA3A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia VWA3A 35
  • 84.59 (n)
  • 78.97 (a)
VWA3A 36
  • 79 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia VWA3A 35
  • 84.87 (n)
  • 79.57 (a)
VWA3A 36
  • 79 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Vwa3a 35
  • 79.62 (n)
  • 73.35 (a)
Vwa3a 16
Vwa3a 36
  • 72 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia VWA3A 35
  • 99.38 (n)
  • 98.82 (a)
VWA3A 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Vwa3a 35
  • 80.24 (n)
  • 74.23 (a)
oppossum
(Monodelphis domestica)
 Mammalia VWA3A 36
  • 53 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia VWA3A 36
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves VWA3A 35
  • 61.34 (n)
  • 56.46 (a)
VWA3A 36
  • 54 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia VWA3A 36
  • 51 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia vwa3a 35
  • 60.19 (n)
  • 53.77 (a)
zebrafish
(Danio rerio)
 Actinopterygii LOC100535802 35
  • 54.61 (n)
  • 44.04 (a)
VWA3A 36
  • 42 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 40 (a)
 OneToOne
Species with no ortholog for VWA3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VWA3A Gene

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

Paralogs for VWA3A Gene

Paralogs for VWA3A Gene

(1) SIMAP similar genes for VWA3A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with VWA3A: view

Variants for VWA3A Gene

Sequence variations from dbSNP and Humsavar for VWA3A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1105929 -, - 22,132,997(+) CACCA(C/T)ACCCC reference, missense
rs16972517 - 22,155,655(+) GGCCC(A/C)ATCCT reference, missense
rs8062281 -- 22,149,864(+) GTGTC(A/T)TGAGG reference, missense
rs12934874 -- 22,124,185(+) ctacc(A/C)caaaa intron-variant
rs13329930 -- 22,120,610(+) TGTCA(A/G)TGTGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for VWA3A Gene

Variant ID Type Subtype PubMed ID
nsv7280 OTHER Inversion 18451855
dgv3n1 OTHER Inversion 15895083
nsv511047 OTHER Inversion 20534489
dgv47n16 OTHER Inversion 17901297
nsv499139 OTHER Inversion 21111241
esv998989 OTHER Inversion 20482838
esv2714070 CNV Deletion 23290073
dgv48n16 CNV Insertion 17901297
nsv1764 CNV Loss 18451855
nsv435668 CNV Deletion 17901297
nsv498860 CNV Loss 21111241
dgv2647n71 CNV Loss 21882294
nsv905598 CNV Gain 21882294
nsv519813 CNV Gain+Loss 19592680
nsv469628 CNV Complex 16826518
nsv469818 CNV Complex 16826518
esv2714073 CNV Deletion 23290073
esv2714075 CNV Deletion 23290073

Variation tolerance for VWA3A Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 74.97% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for VWA3A Gene

Disorders for VWA3A Gene

Relevant External Links for VWA3A

Genetic Association Database (GAD)
VWA3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA3A

No disorders were found for VWA3A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA3A Gene

Publications for VWA3A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3

Products for VWA3A Gene

Sources for VWA3A Gene

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