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Aliases for VWA2 Gene

Aliases for VWA2 Gene

  • Von Willebrand Factor A Domain Containing 2 2 3 5
  • A Domain-Containing Protein Similar To Matrilin And Collagen 3 4
  • Colon Cancer Secreted Protein 2 3 4
  • CCSP-2 3 4
  • AMACO 3 4
  • Von Willebrand Factor A Domain-Containing Protein 2 3
  • Colon Cancer Diagnostic Marker 3
  • NET42 3

External Ids for VWA2 Gene

Previous GeneCards Identifiers for VWA2 Gene

  • GC10P115990
  • GC10P109626

Summaries for VWA2 Gene

Entrez Gene Summary for VWA2 Gene

  • This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

GeneCards Summary for VWA2 Gene

VWA2 (Von Willebrand Factor A Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is COL12A1.

Gene Wiki entry for VWA2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VWA2 Gene

Genomics for VWA2 Gene

Regulatory Elements for VWA2 Gene

Enhancers for VWA2 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
GH10F114259 0.8 Ensembl ENCODE 21.1 +21.6 21620 1.9 ZNF664 IKZF1 VWA2 TDRD1 AURKAPS2 ENSG00000275024
GH10F114150 0.8 ENCODE 19.5 -87.5 -87461 1.5 JUND JUN BHLHE40 FOS FOSL2 TDRD1 VWA2 RNU6-709P ADRB1 ENSG00000273904 UBE2V1P5
GH10F114303 0.2 ENCODE 15.7 +65.4 65440 2.0 WRNIP1 ZNF2 RAD21 GLIS2 ZNF143 CREM ZNF263 SP3 ZNF654 YY2 VWA2 AFAP1L2 LOC105378494 ENSG00000275024
GH10F114265 0.5 ENCODE 11.3 +26.7 26740 0.2 VWA2 TDRD1 AURKAPS2 ENSG00000275024
GH10F114266 0.6 ENCODE 11.3 +27.6 27649 0.4 CTCF FEZF1 RAD21 ZNF518A OSR2 GATA3 GLIS1 ZNF580 PRDM10 FOXJ2 TDRD1 VWA2 ENSG00000275024 AURKAPS2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around VWA2 on UCSC Golden Path with GeneCards custom track

Promoters for VWA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001764316 463 801 CTCF KLF1 ZNF266 ZNF48 RAD21 E2F1 GLIS2 ZNF366 PATZ1 SCRT2

Genomic Location for VWA2 Gene

Chromosome:
10
Start:
114,239,137 bp from pter
End:
114,294,500 bp from pter
Size:
55,364 bases
Orientation:
Plus strand

Genomic View for VWA2 Gene

Genes around VWA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VWA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VWA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VWA2 Gene

Proteins for VWA2 Gene

  • Protein details for VWA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5GFL6-VWA2_HUMAN
    Recommended name:
    von Willebrand factor A domain-containing protein 2
    Protein Accession:
    Q5GFL6
    Secondary Accessions:
    • A1A5D4
    • B5MDJ8
    • Q6ZS39
    • Q6ZWJ7
    • Q708C5
    • Q70UZ8

    Protein attributes for VWA2 Gene

    Size:
    755 amino acids
    Molecular mass:
    82012 Da
    Quaternary structure:
    • Forms monomers and multimers.
    Miscellaneous:
    • May be used as a serological marker for colon neoplasia.

    Alternative splice isoforms for VWA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VWA2 Gene

Post-translational modifications for VWA2 Gene

No data available for DME Specific Peptides for VWA2 Gene

Domains & Families for VWA2 Gene

Protein Domains for VWA2 Gene

Suggested Antigen Peptide Sequences for VWA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5GFL6

UniProtKB/Swiss-Prot:

VWA2_HUMAN :
  • Contains 2 EGF-like domains.
Domain:
  • Contains 2 EGF-like domains.
  • Contains 3 VWFA domains.
genes like me logo Genes that share domains with VWA2: view

No data available for Gene Families for VWA2 Gene

Function for VWA2 Gene

Gene Ontology (GO) - Molecular Function for VWA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IDA 14506275
genes like me logo Genes that share ontologies with VWA2: view
genes like me logo Genes that share phenotypes with VWA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for VWA2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VWA2 Gene

Localization for VWA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VWA2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VWA2 Gene COMPARTMENTS Subcellular localization image for VWA2 gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for VWA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 14506275
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with VWA2: view

Pathways & Interactions for VWA2 Gene

SuperPathways for VWA2 Gene

No Data Available

Interacting Proteins for VWA2 Gene

Gene Ontology (GO) - Biological Process for VWA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007161 calcium-independent cell-matrix adhesion IEA --
GO:0046626 regulation of insulin receptor signaling pathway IMP 15699509
GO:0051260 protein homooligomerization IDA 14506275
genes like me logo Genes that share ontologies with VWA2: view

No data available for Pathways by source and SIGNOR curated interactions for VWA2 Gene

Transcripts for VWA2 Gene

mRNA/cDNA for VWA2 Gene

(10) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VWA2 Gene

Von Willebrand factor A domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VWA2 Gene

No ASD Table

Relevant External Links for VWA2 Gene

GeneLoc Exon Structure for
VWA2
ECgene alternative splicing isoforms for
VWA2

Expression for VWA2 Gene

mRNA expression in normal human tissues for VWA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VWA2 Gene

This gene is overexpressed in Stomach (x7.0).

Protein differential expression in normal tissues from HIPED for VWA2 Gene

This gene is overexpressed in Heart (35.6), Fetal heart (22.0), and Pancreas (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VWA2 Gene



Protein tissue co-expression partners for VWA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of VWA2 Gene:

VWA2

SOURCE GeneReport for Unigene cluster for VWA2 Gene:

Hs.197741

mRNA Expression by UniProt/SwissProt for VWA2 Gene:

Q5GFL6-VWA2_HUMAN
Tissue specificity: Expression is generally absent in normal colon and other normal body tissues, but it is induced an average of 78-fold in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon cancer cell lines.
genes like me logo Genes that share expression patterns with VWA2: view

Primer Products

Orthologs for VWA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VWA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VWA2 34 35
  • 98.19 (n)
dog
(Canis familiaris)
Mammalia VWA2 34 35
  • 85.61 (n)
cow
(Bos Taurus)
Mammalia VWA2 34 35
  • 82.91 (n)
mouse
(Mus musculus)
Mammalia Vwa2 34 16 35
  • 81.78 (n)
rat
(Rattus norvegicus)
Mammalia Vwa2 34
  • 81.21 (n)
oppossum
(Monodelphis domestica)
Mammalia VWA2 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VWA2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves VWA2 34 35
  • 65.42 (n)
lizard
(Anolis carolinensis)
Reptilia VWA2 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa2 34
  • 62.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1564 34
zebrafish
(Danio rerio)
Actinopterygii vwa2 34 35
  • 59.66 (n)
worm
(Caenorhabditis elegans)
Secernentea mup-4 35
  • 6 (a)
OneToMany
Species where no ortholog for VWA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 VWA2 Gene

ENSEMBL:
Gene Tree for VWA2 (if available)
TreeFam:
Gene Tree for VWA2 (if available)

Paralogs for VWA2 Gene

(2) SIMAP similar genes for VWA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with VWA2: view

Variants for VWA2 Gene

Sequence variations from dbSNP and Humsavar for VWA2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036641 A colorectal cancer sample
rs1003441 -- 114,284,605(+) AAGCT(C/T)CAGTC intron-variant
rs10082357 -- 114,289,291(+) CAGGC(A/G)GGAGA intron-variant, reference, missense
rs1010462 -- 114,281,518(+) CTGTG(A/G)TTCAT intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs10536165 -- 114,294,857(+) AAAAC(-/CTAA)CTAAC intron-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for VWA2 Gene

Variant ID Type Subtype PubMed ID
esv2646179 CNV insertion 19546169
esv3443044 CNV duplication 20981092
nsv7211 OTHER inversion 18451855
nsv948192 CNV duplication 23825009

Variation tolerance for VWA2 Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.16; 90.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VWA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VWA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VWA2 Gene

Disorders for VWA2 Gene

Relevant External Links for VWA2

Genetic Association Database (GAD)
VWA2
Human Genome Epidemiology (HuGE) Navigator
VWA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VWA2

No disorders were found for VWA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VWA2 Gene

Publications for VWA2 Gene

  1. Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. (PMID: 15580307) Xin B. … Markowitz S. (Oncogene 2005) 2 3 4 22 64
  2. Identification and characterization of AMACO, a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney. (PMID: 14506275) Sengle G. … Wagener R. (J. Biol. Chem. 2003) 2 3 4 22 64
  3. O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein). (PMID: 18434322) Gebauer J.M. … Wagener R. (J. Biol. Chem. 2008) 3 22 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for VWA2 Gene

Sources for VWA2 Gene

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