Free for academic non-profit institutions. Other users need a Commercial license

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. Diseases associated with VWA2 include Diabetes Mellitus, Insulin-Dependent, 17. 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 CIViC summary , 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
GH10G114303 1.1 ENCODE dbSUPER 15.7 +65.4 65440 2.0 WRNIP1 SIN3A ZNF2 ZBTB7B RAD21 GLIS2 ZNF143 CREM DEK ZNF263 VWA2 AFAP1L2 LOC105378494 ENSG00000275024
GH10G114259 0.8 Ensembl ENCODE 21.1 +21.7 21691 1.8 ZNF664 CTCF IKZF1 ZSCAN5C VWA2 TDRD1 AURKAPS2 ENSG00000275024
GH10G114365 1.3 Ensembl ENCODE dbSUPER 10.1 +128.5 128465 3.2 ZNF146 ZSCAN4 FEZF1 EBF1 FOSL1 GATA3 FOXK2 ZSCAN5C ZSCAN29 PRDM10 VWA2 NHLRC2 GC10P114357 AFAP1L2
GH10G114306 1.2 Ensembl ENCODE dbSUPER 10.5 +68.0 67986 1.5 USF2 NR3C1 DPF2 RAD21 ZIC2 FOXA1 MBD2 GATA3 JUND SMC3 AFAP1L2 VWA2 LOC105378494 ENSG00000275024
GH10G114150 0.6 ENCODE 19.6 -87.5 -87461 1.5 JUND RFX1 ZSCAN5C JUN BHLHE40 FOSL2 FOS TDRD1 VWA2 RNU6-709P ADRB1 ENSG00000273904 UBE2V1P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VWA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for VWA2 Gene

114,239,137 bp from pter
114,294,500 bp from pter
55,364 bases
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:
    Recommended name:
    von Willebrand factor A domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • A1A5D4
    • B5MDJ8
    • Q6ZS39
    • Q6ZWJ7
    • Q708C5
    • Q70UZ8

    Protein attributes for VWA2 Gene

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

    Alternative splice isoforms for VWA2 Gene


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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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

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


Subcellular locations from

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 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

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

Drugs & Compounds for VWA2 Gene

No Compound Related Data Available

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

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

No ASD Table

Relevant External Links for VWA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for VWA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for VWA2 Gene:


mRNA Expression by UniProt/SwissProt for VWA2 Gene:

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.

Evidence on tissue expression from TISSUES for VWA2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with VWA2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VWA2 Gene

Orthologs for VWA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VWA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia VWA2 34 35
  • 98.19 (n)
(Canis familiaris)
Mammalia VWA2 34 35
  • 85.61 (n)
(Bos Taurus)
Mammalia VWA2 34 35
  • 82.91 (n)
(Mus musculus)
Mammalia Vwa2 34 16 35
  • 81.78 (n)
(Rattus norvegicus)
Mammalia Vwa2 34
  • 81.21 (n)
(Monodelphis domestica)
Mammalia VWA2 35
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia VWA2 35
  • 55 (a)
(Gallus gallus)
Aves VWA2 34 35
  • 65.42 (n)
(Anolis carolinensis)
Reptilia VWA2 35
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia vwa2 34
  • 62.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1564 34
(Danio rerio)
Actinopterygii vwa2 34 35
  • 59.66 (n)
(Caenorhabditis elegans)
Secernentea mup-4 35
  • 6 (a)
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

Gene Tree for VWA2 (if available)
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
rs1000006452 -- 114,237,909(+) TTGCA(C/T)TCCAG upstream-variant-2KB
rs1000116339 -- 114,288,680(+) CGTCC(A/C/G)TCAGA intron-variant
rs1000144058 -- 114,285,564(+) CTAGC(A/G)TGGCT intron-variant
rs1000185674 -- 114,247,862(+) CCCTG(A/G)GTTCA intron-variant, upstream-variant-2KB

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

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

Disorders for VWA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VWA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 17
  • type 1 diabetes mellitus 17
- elite association - COSMIC cancer census association via MalaCards
Search VWA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VWA2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with VWA2: view

No data available for 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

Loading form....