ANG Gene (Angiogenin): Function, Mutations, and Disease Associations | Biomedical SEO

The ANG gene encodes angiogenin, a 14 kDa protein belonging to the ribonuclease A superfamily. It is a potent inducer of blood vessel formation (angiogenesis) and also plays roles in neuroprotection and innate immunity. Angiogenin is secreted and internalized by cells, where it translocates to the nucleus and promotes ribosomal RNA transcription, thereby supporting cell proliferation and survival. Mutations in ANG are associated with amyotrophic lateral sclerosis (ALS) and Parkinson's disease, while altered expression is observed in various cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• VEGF signaling pathway (Reactome: R-HSA-194138)

• Angiogenesis (KEGG: hsa04310)

• Ribosome biogenesis (Reactome: R-HSA-6791226)

Angiogenin is a secreted protein that binds to endothelial cells and activates signaling cascades leading to cell migration, proliferation, and tube formation. It is internalized via endocytosis and translocates to the nucleus, where it accumulates in the nucleolus and stimulates rRNA transcription by cleaving promoter-associated RNA. This activity is essential for angiogenesis. In neurons, angiogenin promotes survival under stress conditions, partly by modulating the PI3K/Akt pathway. The protein has a signal peptide (residues 1-24) and a mature chain (25-147) with a catalytic triad (His13, Lys40, His114) typical of ribonucleases. Post-translational modifications include glycosylation and phosphorylation, which regulate its activity and stability.