VWA2

VWA2
Identifiers
AliasesVWA2, AMACO, CCSP-2, NET42, von Willebrand factor A domain containing 2
External IDsMGI: 2684334 HomoloGene: 18238 GeneCards: VWA2
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10q25.3Start114,239,330 bp[1]
End114,291,513 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

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]

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]

The function of this protein is not yet clear; however, it was found markedly induced in colon cancers [8] and may be useful diagnostic serum marker.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165816 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025082 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: von Willebrand factor A domain containing 2".
  6. 1 2 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". J. Biol. Chem. 278 (50): 50240–9. doi:10.1074/jbc.M307794200. PMID 14506275.
  7. ↑ Gebauer JM, Keene DR, Olsen BR, Sorokin LM, Paulsson M, Wagener R (August 2009). "Mouse AMACO, a kidney and skin basement membrane associated molecule that mediates RGD-dependent cell attachment". Matrix Biol. 28 (8): 456–62. doi:10.1016/j.matbio.2009.07.006. PMID 19651211.
  8. ↑ 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, et al. (2004). "IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family". Ann. N. Y. Acad. Sci. 1037 (1): 145–9. doi:10.1196/annals.1337.024. PMID 15699509.
  • Gebauer JM, Müller S, Hanisch FG, et al. (2008). "O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein)". J. Biol. Chem. 283 (26): 17846–54. doi:10.1074/jbc.M704820200. PMID 18434322.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.