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 4
  • PEX7-Binding Protein 2 3 4
  • P7BP2 3 4
  • VWA8 5

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. Diseases associated with VWA8 include Cleft Lip/Palate and Inflammatory Bowel Disease 10. Gene Ontology (GO) annotations related to this gene include ATPase activity.

UniProtKB/Swiss-Prot Summary for VWA8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VWA8 Gene

Genomics for VWA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VWA8 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
GH13J041959 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 607.6 -0.4 -382 4.6 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 KDM1A POLR2A LARP7 GABPA PRDM1 VWA8 VWA8-AS1 DGKH ENSG00000231530 RNU6-74P AKAP11 RF00017-1402
GH13J042046 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -87.4 -87381 3.4 IKZF1 BACH1 LARP7 PRDM1 ZNF143 ZIC2 PATZ1 SMAD5 ZNF501 POLR2A ENSG00000231530 DGKH RNU6-74P VWA8 lnc-VWA8-9 AKAP11
GH13J041644 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 15.8 +312.6 312616 8.7 GATAD2A CTCF REST SOX13 FOXA1 RAD21 IRF2 SP1 CEBPA FOXK2 RGCC VWA8 NAA16 OR7E155P OR7E37P RNU6-57P DGKH ENSG00000231530 lnc-MTRF1-4 piR-32214-145
GH13J041996 Enhancer 1.1 Ensembl ENCODE 15.7 -35.4 -35381 2.2 ZNF512 LEF1 JUND MTA2 PKNOX1 MTA1 ZNF24 DPF2 HDAC1 SOX6 VWA8 DGKH ENSG00000231530 RF00017-1402 RPS28P8 lnc-DGKH-3 LOC105370176
GH13J041915 Enhancer 0.9 ENCODE 18.6 +44.1 44096 2.2 SP1 ZNF629 LEF1 BACH1 JUND STAT3 PRDM1 RELA TCF12 IKZF2 VWA8 piR-61101-155 RF00026-288 RNU6-74P RGCC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VWA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VWA8

Genomic Locations for VWA8 Gene

Genomic Locations for VWA8 Gene
chr13:41,566,835-41,961,120
(GRCh38/hg38)
Size:
394,286 bases
Orientation:
Minus strand
chr13:42,140,961-42,535,256
(GRCh37/hg19)
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:
    • Monomer (PubMed:30204880). Isoform 1 and isoform 2 interact with PEX7 (PubMed:30204880). Isoform 2 interacts with isoform 1 of PEX5 in a PEX7-dependent manner (PubMed:30204880).
    Miscellaneous:
    • [Isoform 2]: AA 66-79 are essential for peroxisome localization.
    • [Isoform 3]: Incomplete sequence.

    Alternative splice isoforms for VWA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA8 Gene

Post-translational modifications for VWA8 Gene

  • Glycosylation at Asn284, Asn855, Asn1096, Asn1142, and Asn1833
  • 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

Gene Families for VWA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for VWA8 Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VWA8 Gene

Function for VWA8 Gene

Molecular function for VWA8 Gene

UniProtKB/Swiss-Prot Function:
Exhibits ATPase activity in vitro.

Phenotypes From GWAS Catalog for VWA8 Gene

Gene Ontology (GO) - Molecular Function for VWA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 30204880
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity 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 Vwa8<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWA8

No data available for 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

[Isoform 1]: Mitochondrion.
[Isoform 2]: Mitochondrion. Peroxisome. Note=Localizes to peroxisomes in a PEX7-dependent manner. {ECO:0000269 PubMed:30204880}.

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 5
peroxisome 5
cytosol 2
cytoskeleton 1
nucleus 0

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:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion ISS --
GO:0005777 peroxisome IEA --
genes like me logo Genes that share ontologies with VWA8: view

Pathways & Interactions for VWA8 Gene

PathCards logo

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

mRNA/cDNA for VWA8 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VWA8

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

No ASD Table

Relevant External Links for VWA8 Gene

GeneLoc Exon Structure for
VWA8

Expression for VWA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for VWA8 Gene



Protein tissue co-expression partners for VWA8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VWA8

SOURCE GeneReport for Unigene cluster for VWA8 Gene:

Hs.368282

Evidence on tissue expression from TISSUES for VWA8 Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Blood(4.4)
  • Heart(2)
  • 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 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VWA8 30 31
  • 90.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VWA8 30 31
  • 89.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vwa8 30 17 31
  • 83.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia VWA8 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VWA8 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VWA8 31
  • 78 (a)
OneToOne
KIAA0564 30
  • 74.94 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 86 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vwa8 30
  • 71.76 (n)
Str.17650 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68485 30
Zebrafish
(Danio rerio)
Actinopterygii vwa8 30 31
  • 67.22 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta c12.2 30 31
  • 55.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000545 30
  • 54.58 (n)
Worm
(Caenorhabditis elegans)
Secernentea F11C1.5 30 31
  • 49.46 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4168 31
  • 54 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.972 30
Species where no ortholog for VWA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for VWA8: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VWA8 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
708894 Benign: not provided 41,692,935(-) G/A MISSENSE_VARIANT
710185 Benign: not provided 41,729,685(-) G/A INTRON_VARIANT
710186 Benign: not provided 41,885,938(-) T/A SYNONYMOUS_VARIANT
737789 Likely Benign: not provided 41,671,090(-) T/C SYNONYMOUS_VARIANT
747553 Likely Benign: not provided 41,865,998(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for VWA8 Gene

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)

Additional Variant Information for VWA8 Gene

Human Gene Mutation Database (HGMD)
VWA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA8

SNP Genotyping and Copy Number Assay Products

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

Disorders for VWA8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for VWA8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cleft lip/palate
  • alveolar cleft lip and palate
inflammatory bowel disease 10
  • ibd10
- elite association - COSMIC cancer census association via MalaCards
Search VWA8 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with VWA8: view

No data available for 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
  2. A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. (PMID: 30204880) Niwa H … Fujiki Y (Journal of biochemistry 2018) 3 4
  3. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for VWA8 Gene

Sources for VWA8 Gene