AlphaFold predicted structure
PRKAG2 · Q9UGJ0
Mean pLDDT
66.4/ 100
Low
569 residues
Confidence breakdown
- Very high(≥ 90)42%
- Confident(70–90)9%
- Low(50–70)3%
- Very low(< 50)46%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PRKAG2
Chr 7q36.1protein kinase AMP-activated non-catalytic subunit gamma 2
- Aliases:
- AAKG, AAKG2, H91620p, WPWS, CMH6
- MANE:
- ENST00000287878.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlycogen storage disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLikely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedProgressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedUndiagnosed metabolic disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
hypertrophic cardiomyopathy 6
0.79hypertrophic cardiomyopathy
0.79lethal congenital glycogen storage disease of heart
0.78Wolff-Parkinson-White syndrome
0.74Glycogen storage disease due to phosphorylase kinase deficiency
0.69cardiomyopathy
0.59familial dilated cardiomyopathy
0.55Rare familial disorder with hypertrophic cardiomyopathy
0.54Abnormality of the cardiovascular system
0.52PRKAG2-related cardiomyopathy
0.48
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
5'-AMP-activated protein kinase subunit gamma-2
AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:24563466). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:14722619, PubMed:24563466). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:14722619, PubMed:24563466). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:14722619, PubMed:24563466). Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits (PubMed:14722619, PubMed:24563466). ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit (PubMed:14722619, PubMed:24563466). ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive (PubMed:14722619, PubMed:24563466)
Diseases associated with PRKAG2
Curated MONDO disease pages that list PRKAG2 among their top associated genes.