VWA2

Protein
VWA2
Identifiers
AliasesVWA2, AMACO, CCSP-2, NET42, von Willebrand factor A domain containing 2, CCSP2
External IDsOMIM: 618281; MGI: 2684334; HomoloGene: 18238; GeneCards: VWA2; OMA:VWA2 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for VWA2
Genomic location for VWA2
Band10q25.3Start114,239,254 bp[1]
End114,294,489 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for VWA2
Genomic location for VWA2
Band19|19 D2Start56,862,681 bp[2]
End56,900,510 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • thymus

  • right uterine tube

  • olfactory zone of nasal mucosa

  • sural nerve

  • testicle

  • body of stomach

  • fundus

  • skin of abdomen

  • body of pancreas

  • skin of leg
Top expressed in
  • otic vesicle

  • molar

  • secondary oocyte

  • primary oocyte

  • lip

  • tail of embryo

  • proximal tubule

  • genital tubercle

  • cervix

  • pulmonary alveolar epithelium
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • identical protein binding
  • calcium ion binding
Cellular component
  • extracellular region
  • basement membrane
  • extracellular exosome
  • extracellular space
  • extracellular matrix
  • collagen-containing extracellular matrix
Biological process
  • calcium-independent cell-matrix adhesion
  • protein homooligomerization
  • regulation of insulin receptor signaling pathway
  • growth plate cartilage chondrocyte morphogenesis
Sources:Amigo / QuickGO
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: 56.86 – 56.9 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]

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000165816 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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. Bibcode:2004NYASA1037..145E. doi:10.1196/annals.1337.024. PMID 15699509. S2CID 41689175.
  • 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.

External links


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