PGAM2

Chr 7p13

phosphoglycerate mutase 2

Aliases:: PGAM-M
MANE:: ENST00000297283.4

OMIM: 612931 ↗NCBI: 5224 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PGAM2 · P15259

v62025-08-01

Predicted Aligned Error matrix for PGAM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

253 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)15%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Ketotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

glycogen storage disease due to phosphoglycerate mutase deficiency
0.78
neurodegenerative disease
0.43
autoimmune disorder of central nervous system
0.35
digestive system neoplasm
0.28
Alzheimer disease
0.26
rhabdomyolysis
0.26
Parkinson disease
0.26
lysosomal storage disease
0.26
multiple sclerosis
0.26
knee fracture
0.21

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

Protein function (UniProt)

Phosphoglycerate mutase 2

Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity