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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

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.

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 VWA8 Gene

Genomics for VWA8 Gene

Regulatory Elements for VWA8 Gene

Promoters for VWA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around VWA8 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for VWA8 Gene at MOPED

Post-translational modifications for VWA8 Gene

  • Glycosylation at Asn 284, Asn 855, Asn 1096, Asn 1142, and Asn 1833
  • Modification sites at PhosphoSitePlus

Other Protein References for VWA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VWA8 Gene

Domains & Families for VWA8 Gene

Protein Domains for VWA8 Gene

Graphical View of Domain Structure for InterPro Entry

A3KMH1

UniProtKB/Swiss-Prot:

VWA8_HUMAN :
  • Contains 1 VWFA domain.
Domain:
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with VWA8: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for VWA8 Gene

Function for VWA8 Gene

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

miRNA for VWA8 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for VWA8 Gene COMPARTMENTS Subcellular localization image for VWA8 gene
Compartment Confidence
mitochondrion 4
extracellular 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for VWA8 Gene

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

Pathways & Interactions for VWA8 Gene

SuperPathways 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:

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 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, MOPED, and MaxQB for VWA8 Gene



SOURCE GeneReport for Unigene cluster for VWA8 Gene Hs.368282

genes like me logo Genes that share expression patterns with VWA8: view

Protein tissue co-expression partners for VWA8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia VWA8 35
  • 89.07 (n)
  • 91.79 (a)
VWA8 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VWA8 35
  • 90.48 (n)
  • 91.82 (a)
VWA8 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vwa8 35
  • 83.33 (n)
  • 86.24 (a)
Vwa8 16
Vwa8 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VWA8 35
  • 99.49 (n)
  • 99.32 (a)
VWA8 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VWA8 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA8 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0564 35
  • 74.94 (n)
  • 79.06 (a)
VWA8 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17650 35
vwa8 35
  • 71.76 (n)
  • 76.23 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68485 35
zebrafish
(Danio rerio)
Actinopterygii vwa8 35
  • 67.22 (n)
  • 72.12 (a)
vwa8 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000545 35
  • 54.58 (n)
  • 55.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta c12.2 35
  • 55.09 (n)
  • 54.68 (a)
c12.2 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F11C1.5 35
  • 49.46 (n)
  • 41.04 (a)
F11C1.5 36
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.972 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4168 36
  • 54 (a)
OneToOne
Species with no ortholog for VWA8:
  • 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
rs9562362 - 41,891,577(+) CTGCA(C/T)GAACT reference, missense
rs3742262 - 41,868,410(-) GATGA(A/C/T)GGAAA reference, missense
rs17062601 - 41,866,027(+) GGTCC(C/T)GGCTG reference, missense
rs9562353 - 41,811,310(+) TTGTC(A/C/T)GGTAG reference, missense
rs2274810 - 41,690,244(+) AGATT(C/T)GATGT reference, missense, utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
VWA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 Res. 1998) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. (PMID: 24057671) Chimusa E.R. … Hoal E.G. (Hum. Mol. Genet. 2014) 3
  5. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3

Products for VWA8 Gene

Sources for VWA8 Gene

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