Protein
VWA2 |
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Identifiers |
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Aliases | VWA2, AMACO, CCSP-2, NET42, von Willebrand factor A domain containing 2, CCSP2 |
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External IDs | OMIM: 618281; MGI: 2684334; HomoloGene: 18238; GeneCards: VWA2; OMA:VWA2 - orthologs |
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Gene location (Human) |
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![Chromosome 10 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/2/2f/Ideogram_human_chromosome_10.svg/300px-Ideogram_human_chromosome_10.svg.png) | Chr. | Chromosome 10 (human)[1] |
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| Band | 10q25.3 | Start | 114,239,254 bp[1] |
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End | 114,294,489 bp[1] |
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Gene location (Mouse) |
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![Chromosome 19 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/8/82/Ideogram_house_mouse_chromosome_19.svg/260px-Ideogram_house_mouse_chromosome_19.svg.png) | Chr. | Chromosome 19 (mouse)[2] |
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| Band | 19|19 D2 | Start | 56,862,681 bp[2] |
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End | 56,900,510 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - otic vesicle
- molar
- secondary oocyte
- primary oocyte
- lip
- tail of embryo
- proximal tubule
- genital tubercle
- cervix
- pulmonary alveolar epithelium
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001272046 NM_198496 NM_001320804 |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 10: 114.24 – 114.29 Mb | Chr 19: 56.86 – 56.9 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000165816 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025082 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: von Willebrand factor A domain containing 2".
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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