PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2
Gene ID: 51422, updated on 2-Nov-2024Gene type: protein coding
Also known as: AAKG; CMH6; WPWS; AAKG2; H91620p
- See all available tests in GTR for this gene
- Go to complete Gene record for PRKAG2
- Go to Variation Viewer for PRKAG2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 6 | See labs |
| Lethal congenital glycogen storage disease of heart | See labs |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| Wolff-Parkinson-White pattern | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-05) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-05) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7q36.1
- Sequence:
- Chromosome: 7; NC_000007.14 (151556127..151877115, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRKAG2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PRKAG2 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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