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Gene

GYS2

glycogen synthase 2

Summary

Cytogenetic location
12p12.1
Coordinates
Chromosome 12: 21,536,107–21,604,847 (GRCh38)
Exons
16 exons across 68.7 kb
Protein
703 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000261195.3NM_021957.4
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 report relevant to this gene

  • Glycogen Storage Disease

    • Glycogen Storage Disease Type 0 (Liver Glycogen Synthase Deficiency)Autosomal recessive

      Caused by variants in GYS2, which cause low blood sugar and ketones after overnight fasting in childhood.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows frequent protein-rich meals and bedtime starch to prevent low blood sugar.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How GYS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where GYS2 sits. GYS2 and 15 genes near it on chromosome 12, from 21,070,477 to 22,070,476.Chromosome 1212p12.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3321.2 Mb21.4 Mb21.6 Mb21.8 Mb22 MbSLCO1B3-SLCO1B7: 20,815,674–21,090,245, forward strandSLCO1B3-SLCO1B7: 21,047,179–21,176,895, forward strandSLCO1B1: 21,127,862–21,298,065, forward strandSLCO1B1SLCO1A2: 21,264,600–21,419,676, reverse strandSLCO1A2IAPP: 21,354,959–21,379,980, forward strandIAPPPYROXD1: 21,437,591–21,471,250, forward strandPYROXD1RECQL: 21,464,720–21,501,669, reverse strandRECQLGOLT1B: 21,501,781–21,518,408, forward strandGOLT1BSPX: 21,526,296–21,541,249, forward strandSPXGYS2: 21,536,107–21,604,847, reverse strandGYS2: 21,536,203–21,657,798, reverse strandLDHB: 21,635,339–21,757,890, reverse strandLDHBKCNJ8: 21,763,939–21,775,615, reverse strandKCNJ8ABCC9: 21,797,389–21,942,543, reverse strandABCC9CMAS: 22,046,174–22,065,674, forward strandCMASST8SIA1: 22,063,773–22,437,041, reverse strandST8SIA1Diagram of GYS2: 16 exons on the reverse strand of chromosome 12Exon 14: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 3 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 16: 21,536,107–21,537,175, 1,069 basesExon 15: 21,539,258–21,539,338, 81 basesExon 14: 21,540,410–21,540,573, 164 basesExon 13: 21,542,496–21,542,591, 96 basesExon 12: 21,546,344–21,546,470, 127 basesExon 11: 21,558,200–21,558,313, 114 basesExon 10: 21,559,091–21,559,169, 79 basesExon 9: 21,559,651–21,559,710, 60 basesExon 8: 21,560,386–21,560,492, 107 basesExon 7: 21,562,918–21,563,038, 121 basesExon 6: 21,563,228–21,563,345, 118 basesExon 5: 21,568,865–21,569,009, 145 basesExon 4: 21,574,144–21,574,326, 183 basesExon 3: 21,575,866–21,576,057, 192 basesExon 2: 21,580,342–21,580,523, 182 basesExon 1: 21,604,472–21,604,847, 376 bases161510515′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 3.2 kb of the gene's 68.7 kb; 2,112 of those bases code for the protein.

How a genome test reads GYS2

43

positions in GYS2 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 68.7 kb of GYS2, introns included, not only the 3.2 kb of exons.

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.). GYS2 gene: glycogen synthase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gys2

Vancouver

Dante Labs. GYS2 gene: glycogen synthase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gys2

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