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Aliases for VWA8 Gene

Aliases for VWA8 Gene

  • Von Willebrand Factor A Domain Containing 8 2 3 5
  • KIAA0564 2 3 4
  • Von Willebrand Factor A Domain-Containing Protein 8 3

External Ids for VWA8 Gene

Previous HGNC Symbols for VWA8 Gene

  • KIAA0564

Previous GeneCards Identifiers for VWA8 Gene

  • GC13M042141

Summaries for VWA8 Gene

GeneCards Summary for VWA8 Gene

VWA8 (Von Willebrand Factor A Domain Containing 8) is a Protein Coding gene. GO annotations related to this gene include ATPase activity.

Additional gene information for VWA8 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 VWA8 Gene

Genomics for VWA8 Gene

Regulatory Elements for VWA8 Gene

Enhancers for VWA8 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
GH13H041644 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +312.5 312529 8 PKNOX1 FOXA2 ZFP64 ARID4B FEZF1 YY1 SP5 TSHZ1 REST PPARG RGCC VWA8 NAA16 OR7E155P OR7E37P RNU6-57P DGKH ENSG00000231530 GC13M041633 GC13M041702
GH13H041915 1.2 Ensembl ENCODE 18.5 +44.1 44096 2 ATF1 TBL1XR1 RB1 INSM2 BMI1 FEZF1 BATF ZNF366 ZSCAN5C SCRT2 VWA8 KARSP1 RNU6-74P
GH13H041612 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.6 +346.8 346766 3 ELF3 SOX13 PKNOX1 FOXA2 SAP130 JUN RAD21 ZNF644 RARA TEAD3 VWA8 GC13M041633 PIR52393
GH13H041693 1.6 FANTOM5 Ensembl ENCODE 7.6 +265.6 265561 4 PKNOX1 ATF1 FEZF1 ZNF2 YY1 FOS ATF7 RUNX3 JUNB TSHZ1 RGCC VWA8 DGKH GC13M041702 GC13M041633
GH13H041996 1 ENCODE 11.3 -35.0 -35000 0 PKNOX1 ATF1 ARNT TCF12 GATA2 ELK1 ATF7 RUNX3 ZNF592 MEF2D VWA8 GC13M041982 GC13P041978
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA8 on UCSC Golden Path with GeneCards custom track

Promoters for VWA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061874 320 2001 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZHX2 MXD4

Genomic Location for VWA8 Gene

Chromosome:
13
Start:
41,566,825 bp from pter
End:
41,961,120 bp from pter
Size:
394,296 bases
Orientation:
Minus strand

Genomic View for VWA8 Gene

Genes around VWA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA8 Gene

Proteins for VWA8 Gene

  • Protein details for VWA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A3KMH1-VWA8_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 8
    Protein Accession:
    A3KMH1
    Secondary Accessions:
    • O60310
    • Q5JTP6
    • Q5VW08
    • Q7Z6I9
    • Q86YC9
    • Q8N3E4

    Protein attributes for VWA8 Gene

    Size:
    1905 amino acids
    Molecular mass:
    214824 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VWA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA8 Gene

Post-translational modifications for VWA8 Gene

  • Glycosylation at posLast=284284, Asn855, posLast=10961096, Asn1142, and posLast=18331833
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for VWA8 Gene

Domains & Families for VWA8 Gene

Gene Families for VWA8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for VWA8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with VWA8: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for VWA8 Gene

Function for VWA8 Gene

Phenotypes From GWAS Catalog for VWA8 Gene

Gene Ontology (GO) - Molecular Function for VWA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA,ISS --
genes like me logo Genes that share ontologies with VWA8: view
genes like me logo Genes that share phenotypes with VWA8: view

Animal Models for VWA8 Gene

MGI Knock Outs for VWA8:
  • Vwa8 tm1b(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for VWA8 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VWA8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VWA8 Gene

Localization for VWA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA8 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 VWA8 gene
Compartment Confidence
mitochondrion 4
extracellular 3
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VWA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005739 mitochondrion IEA,ISS --
genes like me logo Genes that share ontologies with VWA8: view

Pathways & Interactions for VWA8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VWA8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for VWA8 Gene

Drugs & Compounds for VWA8 Gene

No Compound Related Data Available

Transcripts for VWA8 Gene

Unigene Clusters for VWA8 Gene

Von Willebrand factor A domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VWA8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for VWA8 Gene

No ASD Table

Relevant External Links for VWA8 Gene

GeneLoc Exon Structure for
VWA8
ECgene alternative splicing isoforms for
VWA8

Expression for VWA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VWA8 Gene

Protein differential expression in normal tissues from HIPED for VWA8 Gene

This gene is overexpressed in Kidney (11.5), Salivary gland (7.9), Stomach (6.6), Lymph node (6.4), and Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VWA8 Gene



Protein tissue co-expression partners for VWA8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VWA8 Gene:

VWA8

SOURCE GeneReport for Unigene cluster for VWA8 Gene:

Hs.368282

Evidence on tissue expression from TISSUES for VWA8 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Blood(4.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with VWA8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VWA8 Gene

Orthologs for VWA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for VWA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA8 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia VWA8 33 34
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia VWA8 33 34
  • 89.07 (n)
mouse
(Mus musculus)
Mammalia Vwa8 33 16 34
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA8 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA8 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA8 34
  • 78 (a)
OneToOne
KIAA0564 33
  • 74.94 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 86 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa8 33
  • 71.76 (n)
Str.17650 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68485 33
zebrafish
(Danio rerio)
Actinopterygii vwa8 33 34
  • 67.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta c12.2 33 34
  • 55.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000545 33
  • 54.58 (n)
worm
(Caenorhabditis elegans)
Secernentea F11C1.5 33 34
  • 49.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4168 34
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.972 33
Species where no ortholog for VWA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for VWA8 Gene

ENSEMBL:
Gene Tree for VWA8 (if available)
TreeFam:
Gene Tree for VWA8 (if available)

Paralogs for VWA8 Gene

Pseudogenes.org Pseudogenes for VWA8 Gene

genes like me logo Genes that share paralogs with VWA8: view

No data available for Paralogs for VWA8 Gene

Variants for VWA8 Gene

Sequence variations from dbSNP and Humsavar for VWA8 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000005341 -- 41,913,485(+) TCACC(C/T)CACTG intron-variant
rs1000012502 -- 41,819,119(+) AAGAA(A/G)AAACT intron-variant
rs1000013728 -- 41,901,013(+) TAAAT(C/T)AGATA intron-variant
rs1000021749 -- 41,572,695(+) AGAGA(C/T)CCTTG intron-variant
rs1000027523 -- 41,650,187(+) TTGTA(C/T)ACTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VWA8 Gene

Variant ID Type Subtype PubMed ID
dgv1634n100 CNV gain 25217958
dgv3127n54 CNV loss 21841781
dgv75e55 CNV loss 17911159
esv1000583 CNV insertion 20482838
esv1036188 CNV insertion 17803354
esv1655024 CNV insertion 17803354
esv2023186 CNV deletion 18987734
esv24878 CNV gain 19812545
esv2567475 CNV deletion 19546169
esv2666000 CNV deletion 23128226
esv2670625 CNV deletion 23128226
esv2671706 CNV deletion 23128226
esv2747307 CNV deletion 23290073
esv2747309 CNV deletion 23290073
esv3249163 CNV deletion 24192839
esv3303045 CNV tandem duplication 20981092
esv3307780 CNV mobile element insertion 20981092
esv3402311 CNV duplication 20981092
esv3440943 CNV insertion 20981092
esv3550368 CNV deletion 23714750
esv3631883 CNV loss 21293372
esv3631884 CNV loss 21293372
esv7327 CNV loss 19470904
nsv1038912 CNV gain 25217958
nsv1138218 CNV deletion 24896259
nsv1160106 CNV deletion 26073780
nsv455865 CNV gain 19166990
nsv474356 CNV novel sequence insertion 20440878
nsv475896 CNV novel sequence insertion 20440878
nsv528324 CNV loss 19592680
nsv561539 CNV gain 21841781
nsv832588 CNV gain 17160897
nsv977383 CNV duplication 23825009

Variation tolerance for VWA8 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.07; 96.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA8 Gene

Disorders for VWA8 Gene

Relevant External Links for VWA8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA8

No disorders were found for VWA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA8 Gene

Publications for VWA8 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8). (PMID: 28414126) Luo M … Mandarino LJ (Biochemical and biophysical research communications 2017) 3 60
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for VWA8 Gene

Sources for VWA8 Gene

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