VWA2

von Willebrand factor A domain-containing protein 2, also known as A domain-containing protein similar to matrilin and collagen (AMACO) is a protein that in humans is encoded by the VWA2 gene.[5][6]

VWA2
Identifiers
AliasesVWA2, AMACO, CCSP-2, NET42, von Willebrand factor A domain containing 2, CCSP2
External IDsOMIM: 618281 MGI: 2684334 HomoloGene: 18238 GeneCards: VWA2
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10q25.3Start114,239,254 bp[1]
End114,294,489 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

340706

240675

Ensembl

ENSG00000165816

ENSMUSG00000025082

UniProt

Q5GFL6

Q70UZ7

RefSeq (mRNA)

NM_001272046
NM_198496
NM_001320804

NM_172840

RefSeq (protein)

NP_001258975
NP_001307733

NP_766428

Location (UCSC)Chr 10: 114.24 – 114.29 MbChr 19: 56.87 – 56.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AMACO is a member of the von Willebrand factor A-like (VWA) domain containing protein superfamily and consists of three VWA-like domains, two EGF-like domains, a cysteine-rich domain and a unique C-terminal domain.[6] AMACO is an extracellular matrix protein and mostly deposited adjacent to basement membranes.[7]

AMACO binds directly to FRAS1 which is part of the Fraser complex important for epithelial-connective tissue interaction[8], the exact biological role of AMACO, however, is still unknown. In 2005 AMACO was found markedly induced in colon cancers [9]; indicating that it might be a good candidate as a biomarker for this type of cancer.

References
  1. GRCh38: Ensembl release 89: ENSG00000165816 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025082 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: von Willebrand factor A domain containing 2".
  6. Sengle G, Kobbe B, Morgelin M, Paulsson M, Wagener R (December 2003). "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". The Journal of Biological Chemistry. 278 (50): 50240–9. doi:10.1074/jbc.M307794200. PMID 14506275.
  7. Gebauer JM, Keene DR, Olsen BR, Sorokin LM, Paulsson M, Wagener R (October 2009). "Mouse AMACO, a kidney and skin basement membrane associated molecule that mediates RGD-dependent cell attachment". Matrix Biology. 28 (8): 456–62. doi:10.1016/j.matbio.2009.07.006. PMID 19651211.
  8. Richardson RJ, Gebauer JM, Zhang JL, Kobbe B, Keene DR, Karlsen KR, Richetti S, Wohl AP, Sengle G, Neiss WF, Paulsson M, Hammerschmidt M, Wagener R (May 2014). "AMACO is a component of the basement membrane-associated Fraser complex". The Journal of Investigative Dermatology. 134 (5): 1313–1322. doi:10.1038/jid.2013.492. PMC 4361737. PMID 24232570.
  9. Xin B, Platzer P, Fink SP, Reese L, Nosrati A, Willson JK, Wilson K, Markowitz S (January 2005). "Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia". Oncogene. 24 (4): 724–31. doi:10.1038/sj.onc.1208134. PMID 15580307.

Further reading
  • Eller E, Vardi P, Daly MJ, Babu S, Roberts C, Yang F, Eisenbarth GS, Fain PR (December 2004). "IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family". Annals of the New York Academy of Sciences. 1037 (1): 145–9. doi:10.1196/annals.1337.024. PMID 15699509.
  • Gebauer JM, Müller S, Hanisch FG, Paulsson M, Wagener R (June 2008). "O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein)". The Journal of Biological Chemistry. 283 (26): 17846–54. doi:10.1074/jbc.M704820200. PMID 18434322.
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