PRKAG2 Chromosome 7
Protein kinase AMP-activated non-catalytic subunit gamma 2
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What This Gene Does
AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Protein kinase AMP-activated non-catalytic subunit gamma family
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000106617
Associated Conditions (20)
Cardiomyopathy
Lethal congenital glycogen storage disease of heart
Cardiovascular phenotype
Hypertrophic cardiomyopathy
PRKAG2-related disorder
Wolff-Parkinson-White pattern
Hypertrophic cardiomyopathy 6
Gastric cancer
Primary dilated cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Heart failure
See cases
Familial cancer of breast
Arrhythmogenic right ventricular dysplasia 9
Cervical cancer
PRKAG2 cardiac syndrome
Renal cysts and diabetes syndrome
Wolff-Parkinson-White syndrome
childhood-onset
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Key Variants
RS1057520352
Conflicting classifications of pathogenicity
Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
Health Risk
RS1057520353
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
Health Risk
RS111627309
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Wolff-Parkinson-White pattern
Health Risk
RS1164114205
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Lethal congenital glycogen storage disease of heart
Health Risk
RS116541276
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
Health Risk
RS1182448951
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
Health Risk
RS1184637689
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS121908988
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart
Health Risk
RS121908991
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy, Gastric cancer
Health Risk
RS1280299073
Conflicting classifications of pathogenicity
Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Cardiomyopathy
Health Risk
RS139579816
Conflicting classifications of pathogenicity
Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Hypertrophic cardiomyopathy 6
Health Risk
RS141316327
Conflicting classifications of pathogenicity
Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
Health Risk
All Variants (141)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764742900 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6 |
| RS765374050 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, Cardiomyopathy |
| RS766113743 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Cardiovascular phenotype |
| RS767613486 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Cardiomyopathy |
| RS767902787 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart |
| RS768453540 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy |
| RS768909087 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype |
| RS772303730 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart |
| RS773864390 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype, Cardiomyopathy |
| RS775756069 | Health Risk | Conflicting classifications of pathogenicity | Wolff-Parkinson-White pattern, Cardiomyopathy, Lethal congenital glycogen storage disease of heart |
| RS779526669 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Cardiomyopathy |
| RS779931367 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Cardiovascular phenotype |
| RS780341115 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Cardiomyopathy |
| RS780864954 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS781267213 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy |
| RS781741013 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Cardiovascular phenotype |
| RS79474211 | Health Risk | Conflicting classifications of pathogenicity | PRKAG2 cardiac syndrome, Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart |
| RS867502251 | Health Risk | Conflicting classifications of pathogenicity | Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern |
| RS869025498 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Cardiovascular phenotype |
| RS886062098 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6 |
| RS886062101 | Health Risk | Conflicting classifications of pathogenicity | Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Cardiovascular phenotype |
| RS917493455 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Lethal congenital glycogen storage disease of heart, PRKAG2-related disorder |
| RS977597576 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital glycogen storage disease of heart, Cardiomyopathy, Lethal congenital glycogen storage disease of heart |
| RS121908990 | Health Risk | Likely pathogenic | Wolff-Parkinson-White syndrome, childhood-onset, Cardiovascular phenotype |
| RS1563161306 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS267606979 | Health Risk | Likely pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS28938173 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy, PRKAG2-related disorder |
| RS397517283 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504392 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS878855017 | Health Risk | Likely pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS121908989 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 6 |
| RS1804721948 | Health Risk | Pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS1808950153 | Health Risk | Pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS2151024166 | Health Risk | Pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS2536276180 | Health Risk | Pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS267606977 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy |
| RS267606978 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart |
| RS587776643 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 6 |
| RS730882148 | Health Risk | Pathogenic | Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart |
| RS121908987 | Health Risk | Pathogenic/Likely pathogenic | Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6, Primary familial hypertrophic cardiomyopathy |
| RS193922697 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy, Hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart |