• Gene id: 340706

Gene Summary

• Gene Symbol: VWA2   Gene   UCSC   Ensembl
• Aliases: AMACO, CCSP-2, CCSP2, NET42
• Gene name: von Willebrand factor A domain containing 2
• Alternate names: von Willebrand factor A domain-containing protein 2, a domain-containing protein similar to matrilin and collagen, colon cancer diagnostic marker, colon cancer secreted protein 2,
• Gene location: 10q25.3 (114239253: 114294499)     Exons: 18     NC_000010.11
• Gene summary(Entrez): 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 o
• OMIM: 300329

Protein Summary

• Protein general information: Q5GFL6  
  • Name: von Willebrand factor A domain containing protein 2 (A domain containing protein similar to matrilin and collagen) (AMACO) (Colon cancer secreted protein 2) (CCSP 2)
  • Length: 755  
  • Mass: 82012
  • 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. {ECO
• Sequence:

  MPPFLLLEAVCVFLFSRVPPSLPLQEVHVSKETIGKISAASKMMWCSAAVDIMFLLDGSNSVGKGSFERSKHFAI
  TVCDGLDISPERVRVGAFQFSSTPHLEFPLDSFSTQQEVKARIKRMVFKGGRTETELALKYLLHRGLPGGRNASV
  PQILIIVTDGKSQGDVALPSKQLKERGVTVFAVGVRFPRWEELHALASEPRGQHVLLAEQVEDATNGLFSTLSSS
  AICSSATPDCRVEAHPCEHRTLEMVREFAGNAPCWRGSRRTLAVLAAHCPFYSWKRVFLTHPATCYRTTCPGPCD
  SQPCQNGGTCVPEGLDGYQCLCPLAFGGEANCALKLSLECRVDLLFLLDSSAGTTLDGFLRAKVFVKRFVRAVLS
  EDSRARVGVATYSRELLVAVPVGEYQDVPDLVWSLDGIPFRGGPTLTGSALRQAAERGFGSATRTGQDRPRRVVV
  LLTESHSEDEVAGPARHARARELLLLGVGSEAVRAELEEITGSPKHVMVYSDPQDLFNQIPELQGKLCSRQRPGC
  RTQALDLVFMLDTSASVGPENFAQMQSFVRSCALQFEVNPDVTQVGLVVYGSQVQTAFGLDTKPTRAAMLRAISQ
  APYLGGVGSAGTALLHIYDKVMTVQRGARPGVPKAVVVLTGGRGAEDAAVPAQKLRNNGISVLVVGVGPVLSEGL
  RRLAGPRDSLIHVAAYADLRYHQDVLIEWLCGEAKQPVNLCKPSPCMNEGSCVLQNGSYRCKCRDGWEGPHCENR
  FLRRP

• Structural information:
  • Protein Domains: (51..22-)
    (/note="VWFA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (296..33-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (343..51-)
    (/note="VWFA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR030755  IPR002035   IPR036465  
  • Prosite: PS00022 PS01186 PS50026 PS50234
  • STRING: ENSP00000376708
• Other Databases: GeneCards:  VWA2  Malacards:  VWA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005604	basement membrane	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007161	calcium-independent cell-matrix adhesion	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0007161	calcium-independent cell-matrix adhesion	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046626	regulation of insulin receptor signaling pathway	IMP	biological process
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005604	basement membrane	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0007161	calcium-independent cell-matrix adhesion	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0007161	calcium-independent cell-matrix adhesion	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046626	regulation of insulin receptor signaling pathway	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq