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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.

Additional gene information for VWA3A Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for VWA3A Gene

Promoters and enhancers for VWA3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I022092 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +0.6 623 1.1 SOX13 MXI1 SIN3A BMI1 ZIC2 GATA3 FOXK2 ATF7 PRDM10 RFX1 LOC105371129 VWA3A GC16P022106 PIR50524
GH16I022006 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 12.4 -83.7 -83657 2.8 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF48 YY1 ZNF213 ZNF548 ATF7 ENSG00000275445 GC16P022007 C16orf52 SMG1P4 SMG1P1 SMG1P3 NPIPB4 NPIPB5 NPIPB3 ENSG00000260635
GH16I022024 Enhancer 1 Ensembl ENCODE 10.8 -65.2 -65179 4.3 FOXA2 INSM2 RARA ZNF121 SCRT2 FOS IKZF2 RUNX3 SP5 JUNB PDZD9 SDR42E2 VWA3A C16orf52 RRN3P1 ENSG00000260306 NPIPB3 NPIPB4 NPIPB5 GC16P022022
GH16I021997 Enhancer 0.9 Ensembl ENCODE 10.8 -94.1 -94106 1.3 FOXA2 SAP130 HLF ARID4B MNT THRB ZNF7 GABPA NFIL3 ZNF121 LOC100420536 VWA3A PDZD9 LOC100420644
GH16I022029 Enhancer 0.7 ENCODE 10.8 -62.0 -61984 1.6 ELF3 SOX13 FOXA2 ZNF792 CEBPG KMT2B TEAD3 NR2F6 CREM HOMEZ PDZD9 SDR42E2 VWA3A GC16P022032 GC16P022022 C16orf52
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VWA3A on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for VWA3A Gene

Genomic Locations for VWA3A Gene
chr16:22,091,914-22,156,966
(GRCh38/hg38)
Size:
65,053 bases
Orientation:
Plus strand
chr16:22,103,859-22,168,287
(GRCh37/hg19)

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 posLast=709709
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VWA3A Gene

Domains & Families for VWA3A Gene

Gene Families for VWA3A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot 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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VWA3A Gene

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

Drugs & Compounds for VWA3A Gene

No Compound Related Data Available

Transcripts for VWA3A Gene

Unigene Clusters for VWA3A Gene

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

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for VWA3A Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with VWA3A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia VWA3A 33 34
  • 84.87 (n)
cow
(Bos Taurus)
Mammalia VWA3A 33 34
  • 84.59 (n)
rat
(Rattus norvegicus)
Mammalia Vwa3a 33
  • 80.24 (n)
mouse
(Mus musculus)
Mammalia Vwa3a 33 16 34
  • 79.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia VWA3A 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA3A 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA3A 33 34
  • 61.34 (n)
lizard
(Anolis carolinensis)
Reptilia VWA3A 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa3a 33
  • 60.19 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535802 33
  • 54.61 (n)
VWA3A 34
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000032270 -- 22,127,795(+) T/C intron_variant
rs1000058282 -- 22,124,503(+) A/C intron_variant
rs1000100238 -- 22,120,676(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000189972 -- 22,092,497(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000210271 -- 22,138,680(+) C/T intron_variant

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

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

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)

Additional Variant Information for VWA3A Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA3A Gene

Disorders for VWA3A Gene

Additional Disease Information for 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 (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4 58

Products for VWA3A Gene

Sources for VWA3A Gene

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