PRKAA2
Chr 1protein kinase AMP-activated catalytic subunit alpha 2
The protein encoded by this gene is the alpha-2 catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor that phosphorylates and regulates key enzymes in cellular metabolism, autophagy, and transcription in response to cellular energy stress. Mutations cause familial Wolff-Parkinson-White syndrome with hypertrophic cardiomyopathy, inherited in an autosomal dominant pattern. This gene is highly intolerant to loss-of-function mutations, affecting cardiac conduction and energy homeostasis.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRKAA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools