PRKAG2
Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2
Gene Information Card
| Symbol | PRKAG2 |
|---|---|
| Full Name | Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 51422 ncbi.nlm.nih.gov/gene/51422 |
| Ensembl ID | ENSG00000106617 |
| UniProt ID | Q9UGJ0 |
| OMIM ID | 602743 |
| HGNC ID | 9386 |
| Aliases | CMH6, WPWS, AAKG2, H91620, AMPK gamma 2 |
Description
PRKAG2 encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK), a heterotrimeric complex that acts as a cellular energy sensor. Mutations in PRKAG2 are associated with cardiac glycogen storage disease, Wolff-Parkinson-White syndrome, and hypertrophic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wolff-Parkinson-White syndrome | Gain-of-function mutations lead to glycogen accumulation in cardiac tissue, disrupting electrical conduction. | OMIM #194200 |
| Hypertrophic cardiomyopathy 6 | Missense mutations cause constitutive AMPK activation, promoting glycogen storage and ventricular hypertrophy. | OMIM #600858 |
| Glycogen storage disease of heart | Dominant-negative mutations impair AMPK regulation, resulting in excessive glycogen deposition. | OMIM #261740 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Liver | 5.1 | Low |
| Brain | 4.2 | Low |
| Pancreas | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.6 | High expression in heart tissue |
| HepG2 | 6.2 | Moderate expression |
| SH-SY5Y | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.905G>A (p.Arg302Gln) | Missense | Rare | Gain-of-function; increased AMPK activity leading to glycogen storage |
| c.592G>A (p.Glu198Lys) | Missense | Rare | Dominant-negative; reduced AMPK activity, cardiac hypertrophy |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Gain-of-function; associated with WPW syndrome |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most pathogenic mutations are gain-of-function or dominant-negative.
Gain of Function (GOF)
Mutations such as p.Arg302Gln and p.Arg488Trp increase AMPK activity, leading to glycogen accumulation and cardiac conduction defects.
Dominant Negative (DN)
Mutations like p.Glu198Lys impair AMPK complex assembly, reducing overall kinase activity and causing hypertrophic cardiomyopathy.
View complete mutation data：
Gene Ontology (GO)
| • AMP-activated protein kinase activity (GO:0004679) | • ATP binding (GO:0005524) |
| • Protein heterodimerization activity (GO:0046982) | • Regulation of cellular response to stress (GO:0080135) |
Pathways
• AMPK signaling pathway (KEGG: hsa04152)
• Insulin signaling pathway (KEGG: hsa04910)
• Adipocytokine signaling pathway (KEGG: hsa04920)
Protein Summary
The PRKAG2 protein is a regulatory gamma subunit of AMPK, which senses cellular energy status by binding AMP and ATP. It modulates AMPK activity in response to energy stress, influencing glucose uptake, fatty acid oxidation, and glycogen metabolism. Mutations disrupt energy homeostasis, particularly in cardiac muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKAG2 Knockout HEK293 Cell Line | EDJ-KQ1451 | Human | 51422 | Details Get a Quote |
| PRKAG2 Knockout A-549 Cell Line | EDJ-KQ21004 | Human | 51422 | Details Get a Quote |
| PRKAG2 Knockout HCT 116 Cell Line | EDJ-KQ21005 | Human | 51422 | Details Get a Quote |
| PRKAG2 Knockout HeLa Cell Line | EDJ-KQ21006 | Human | 51422 | Details Get a Quote |
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