von Willebrand factor A domain-containing protein 2 (VWA2)

Von Willebrand factor A domain-containing protein 2 (VWA2, also known as AMACO or CCSP-2) is a secreted extracellular matrix protein characterized by three von Willebrand factor A (VWA) domains, two epidermal growth factor (EGF)-like domains, and a cysteine-rich region.[1][5][6] It is localized mainly in basement membranes and is thought to play a structural role in the extracellular matrix, possibly anchoring or supporting collagen VII or fibrillin scaffolds.[1][3] VWA2 expression is prominent in tissues such as skin, cartilage, lung, and kidney.[1][3] It is up-regulated in colorectal carcinomas and serves as a promising biomarker for colorectal cancer, with increased expression linked to epigenetic modifications and the WNT/Myc oncogenic program.[2][4][5] Genetic variation in VWA2 is associated with type 1 diabetes risk,[1][8] and rare mutations may contribute to Alzheimer’s disease susceptibility.[1] Although it binds to FRAS1 in the Fraser complex, its precise biological functions remain incompletely defined.[5][9] There are currently no known drugs that target VWA2 directly, and it is mainly of research and diagnostic interest as a biomarker rather than a therapeutic target.[2][6]

Other names

AMACOCCSP-2NET42Colon cancer secreted protein 2A domain-containing protein similar to matrilin and collagenCCSP2FLJ45857FLJ16213