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Gene

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

Summary

Cytogenetic location
7q36.1
Coordinates
Chromosome 7: 151,556,127–151,877,115 (GRCh38)
Exons
16 exons across 321 kb
Protein
569 amino acids
Inheritance
Autosomal dominant
Also known as
AAKG, AAKG2, H91620p, WPWS, CMH6
MANE Select transcript
ENST00000287878.9NM_016203.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Syndromic and Metabolic Cardiomyopathies

    • PRKAG2-Related CardiomyopathyAutosomal dominant

      A glycogen storage condition of the heart caused by changes in PRKAG2 that causes thickening of the heart muscle and conduction problems such as Wolff-Parkinson-White pattern.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing about it supports rhythm monitoring, as some people need a pacemaker or treatment of an accessory pathway.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 2 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PRKAG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 7, with a bracket where PRKAG2 sits. PRKAG2 and 11 genes near it on chromosome 7, from 151,216,621 to 152,216,620.Chromosome 77q36.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3151.4 Mb151.6 Mb151.8 Mb152 Mb152.2 MbABCF2-H2BK1: 151,207,837–151,227,166, reverse strandABCF2-H2BK1ABCF2: 151,211,484–151,227,264, reverse strandABCF2CHPF2: 151,232,483–151,240,979, forward strandCHPF2SMARCD3: 151,238,764–151,277,896, reverse strandSMARCD3NUB1: 151,341,704–151,381,097, forward strandNUB1WDR86: 151,375,909–151,410,727, reverse strandWDR86CRYGN: 151,428,293–151,440,813, reverse strandCRYGNRHEB: 151,465,976–151,520,120, reverse strandRHEBPRKAG2: 151,556,127–151,877,115, reverse strandPRKAG2GALNTL5: 151,956,379–152,019,929, forward strandGALNTL5GALNT11: 152,025,626–152,122,347, forward strandGALNT11KMT2C: 152,134,922–152,436,656, reverse strandKMT2CDiagram of PRKAG2: 16 exons on the reverse strand of chromosome 7Exon 15: 6 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 16: 151,556,127–151,557,232, 1,106 basesExon 15: 151,560,524–151,560,617, 94 bases. 1 variant with a page in exon 15. List themExon 14: 151,564,078–151,564,224, 147 basesExon 13: 151,565,346–151,565,383, 38 basesExon 12: 151,565,720–151,565,885, 166 basesExon 11: 151,568,716–151,568,842, 127 basesExon 10: 151,570,171–151,570,225, 55 basesExon 9: 151,572,664–151,572,709, 46 basesExon 8: 151,574,891–151,574,949, 59 basesExon 7: 151,576,371–151,576,452, 82 bases. 1 variant with a page in exon 7. List themExon 6: 151,595,345–151,595,454, 110 basesExon 5: 151,632,069–151,632,138, 70 basesExon 4: 151,675,420–151,675,637, 218 basesExon 3: 151,781,152–151,781,431, 280 basesExon 2: 151,786,470–151,786,541, 72 basesExon 1: 151,876,507–151,877,115, 609 bases161015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.3 kb of the gene's 321 kb; 1,710 of those bases code for the protein.

How a genome test reads PRKAG2

23

positions in PRKAG2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 321 kb of PRKAG2, introns included, not only the 3.3 kb of exons.

Variants with a page (2)

The PRKAG2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
R302Qc.905G>AExon 7151,576,412Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R531Qc.1592G>AExon 15151,560,610Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PRKAG2 gene: protein kinase AMP-activated non-catalytic subunit gamma 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/prkag2

Vancouver

Dante Labs. PRKAG2 gene: protein kinase AMP-activated non-catalytic subunit gamma 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prkag2

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