GYS2

Chr 12p12.1

glycogen synthase 2

MANE:: ENST00000261195.3

OMIM: 138571 ↗NCBI: 2998 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GYS2 · P54840

v62025-08-01

Predicted Aligned Error matrix for GYS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.7/ 100

Confident

703 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)10%
Low(50–70)4%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Glycogen storage disease
BIALLELIC, autosomal or pseudoautosomal
Ketotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Hyperammonaemia
Intellectual disability

Disease associations (Open Targets)

Glycogen storage disease due to hepatic glycogen synthase deficiency
0.82
glycogen storage disorder due to hepatic glycogen synthase deficiency
0.81
disorder of glycogen metabolism
0.63
Glycogen storage disease due to glycogenin deficiency
0.51
infectious disease
0.28
ischemic stroke
0.26
hereditary disease
0.19
type 2 diabetes mellitus
0.16
diabetes mellitus
0.14
schizophrenia
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glycogen [starch] synthase, liver

Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan