PRKAA2 (P54646) variants and mutations

PRKAA2 (also known as P54646) is a human protein-coding gene encoding a 5'-AMP-activated protein kinase catalytic subunit alpha-2 protein. It contributes AMPK catalytic activity in energy-demanding tissues such as heart and skeletal muscle, linking cellular AMP or ADP levels to metabolic adaptation. Altered signaling affects glucose and lipid metabolism and stress tolerance, with limited established monogenic disease. This analysis covers 834 PRKAA2 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes cardiovascular disorder, allergic rhinitis, and neurodegenerative disease. Example PRKAA2 variants include A2V, A2S, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PRKAA2 variants

Examples include A2V, A2S, A2T, A2D, A2A, E3K, E3Q, E3*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.