Human Adenosine Deaminase 2 (ADA2) Protein

Background

ADA2, encoded by the CECR1 gene, is a secreted protein that belongs to the adenosine deaminase family but has a distinct role compared to ADA. While ADA mainly regulates purine metabolism, ADA2 functions as a growth factor and modulates immune and vascular systems. It plays a significant role in macrophage activation, promoting M2 polarization, and regulating endothelial cell proliferation and angiogenesis. ADA2 is highly expressed in immune-related tissues, particularly monocytes and macrophages. Loss-of-function mutations in ADA2 cause Deficiency of ADA2 (DADA2), an autoinflammatory disorder characterized by systemic vasculitis, early-onset stroke, immunodeficiency, and bone marrow failure. Elevated ADA2 activity has also been linked to tumor progression and inflammation. ADA2 is a critical biomarker and therapeutic target for managing vasculitic and immune-related diseases.