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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

Regulatory Elements for VWA3A Gene

Enhancers for VWA3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F022006 1.3 FANTOM5 ENCODE 12.4 -83.7 -83657 2.8 ATF1 PKNOX1 ARID4B SIN3A ZNF48 YY1 ZNF548 SP3 ZHX2 MIER2 SMG1P4 SMG1P1 NPIPB5 ENSG00000260635 ENSG00000260905 EEF2K VWA3A ENSG00000260306 OTOA ENSG00000275445
GH16F022024 1.1 Ensembl ENCODE 10.8 -65.2 -65180 4.3 INSM2 RARA ZNF121 SCRT2 FOS SP5 JUNB TBX21 ZSCAN16 ETV4 PDZD9 SDR42E2 VWA3A RRN3P1 ENSG00000260306 NPIPB5 GC16P022022 GC16P022032
GH16F022029 1.1 Ensembl ENCODE 10.8 -62.1 -62055 1.7 SOX13 ELF3 ZNF792 CEBPG TEAD3 NR2F6 CREM HOMEZ ZNF652 MIXL1 PDZD9 SDR42E2 VWA3A GC16P022032 GC16P022022
GH16F021997 1.1 Ensembl ENCODE 10.8 -94.1 -94106 1.3 SAP130 ZMYM3 ARID4B ZNF266 THRB KMT2B ZNF7 ZNF121 ZNF335 ZNF600 VWA3A LOC100420536 LOC100420644
GH16F022070 1 FANTOM5 Ensembl ENCODE 11.6 -20.6 -20642 2.4 SMARCA4 POLR2A PRDM1 PDZD9 VWA3A SDR42E2 UQCRC2 ENSG00000260905 OTOA GC16P022079 GC16P022057
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA3A on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence for VWA3A Gene

Proteins for VWA3A Gene

  • 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

Post-translational modifications for VWA3A Gene

  • Glycosylation at Asn 709
  • Modification sites at PhosphoSitePlus

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

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VWA3A gene
Compartment Confidence
extracellular 3
mitochondrion 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for VWA3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with VWA3A: view

Pathways & Interactions for VWA3A Gene

SuperPathways for VWA3A Gene

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

Transcripts for VWA3A Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for VWA3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VWA3A Gene:

VWA3A

SOURCE GeneReport for Unigene cluster for VWA3A Gene:

Hs.10697
genes like me logo Genes that share expression patterns with VWA3A: view

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
chimpanzee
(Pan troglodytes)
Mammalia VWA3A 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia VWA3A 34 35
  • 84.87 (n)
cow
(Bos Taurus)
Mammalia VWA3A 34 35
  • 84.59 (n)
rat
(Rattus norvegicus)
Mammalia Vwa3a 34
  • 80.24 (n)
mouse
(Mus musculus)
Mammalia Vwa3a 34 16 35
  • 79.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA3A 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA3A 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA3A 34 35
  • 61.34 (n)
lizard
(Anolis carolinensis)
Reptilia VWA3A 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa3a 34
  • 60.19 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535802 34
  • 54.61 (n)
VWA3A 35
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for VWA3A was found in the sources mined by GeneCards:
  • 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
rs1047797 -- 22,156,883(+) TGGCG(G/T)GTGTG utr-variant-3-prime
rs10521117 -- 22,149,965(+) ACGCA(A/C)AACAA intron-variant
rs10521120 -- 22,094,276(+) AGTCT(C/T)TGCCA intron-variant, upstream-variant-2KB
rs10564178 -- 22,124,531(+) ACATC(-/TAT)TATTA intron-variant
rs1105928 -- 22,133,257(+) ggttg(A/C)acaac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7280 OTHER inversion 18451855
nsv499139 OTHER inversion 21111241
nsv469818 CNV loss 16826518
nsv469628 CNV gain 16826518
nsv1140248 OTHER inversion 24896259
nsv1077770 OTHER inversion 25765185
esv998989 OTHER inversion 20482838
esv3638199 CNV loss 21293372
esv3638198 CNV gain 21293372
esv3638196 CNV gain 21293372
esv3638195 CNV gain 21293372
esv3368991 OTHER inversion 20981092
dgv47n16 OTHER inversion 17901297
dgv3n1 OTHER inversion 15895083

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)

Relevant External Links for VWA3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  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 64
  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 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J. … Pennacchio L.A. (Nature 2004) 4 64

Products for VWA3A Gene

Sources for VWA3A Gene

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