PGAM2: Phosphoglycerate Mutase 2
Gene encoding the muscle-specific isoform of phosphoglycerate mutase, critical for glycolysis and associated with glycogen storage disease type X.
Gene Information Card
| Symbol | PGAM2 |
|---|---|
| Full Name | Phosphoglycerate Mutase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 5224 ncbi.nlm.nih.gov/gene/5224 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | P15259 |
| OMIM ID | 261670 |
| HGNC ID | 8889 |
| Aliases | PGAM-M, PGAM3, BPGM |
Description
PGAM2 encodes the muscle-specific isoform of phosphoglycerate mutase (PGAM), a glycolytic enzyme that catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate. This isoform is predominantly expressed in skeletal muscle and heart. Mutations in PGAM2 cause glycogen storage disease type X (GSD X), characterized by exercise intolerance, myalgia, and elevated serum creatine kinase.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type X (GSD X) | Loss-of-function mutations in PGAM2 reduce or abolish enzyme activity, impairing glycolysis in muscle and leading to glycogen accumulation and muscle dysfunction. | ClinVar, OMIM |
| Exercise intolerance | PGAM2 deficiency limits ATP production via glycolysis during strenuous activity, causing premature muscle fatigue and cramping. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 107.5 | High |
| Heart | 42.3 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 89.2 | Muscle-derived line |
| H9c2 (rat cardiomyocyte) | 65.4 | Cardiac model |
| HeLa | 2.1 | Cervical carcinoma, low expression |
| HEK 293 | 1.8 | Embryonic kidney, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.233G>A (p.Arg78His) | Missense | Reported in GSD X | Reduces enzyme activity; common in European patients |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; complete loss of function |
| c.464T>C (p.Leu155Pro) | Missense | Reported in GSD X | Destabilizes protein structure; decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Most PGAM2 mutations are loss-of-function, reducing or abolishing enzymatic activity, leading to glycogen storage disease type X.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PGAM2.
Dominant Negative (DN)
No dominant-negative mutations have been described; PGAM2 deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phosphoglycerate mutase activity (GO:0004619) | • glycolytic process (GO:0006096) |
| • cytoplasm (GO:0005737) | • intramolecular transferase activity (GO:0016868) |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Carbon metabolism (KEGG: hsa01200)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PGAM2 encodes a 253-amino acid protein (PGAM-M) that forms a homodimer and catalyzes the reversible conversion of 2-phosphoglycerate to 3-phosphoglycerate in glycolysis. The enzyme requires 2,3-bisphosphoglycerate as a cofactor. PGAM2 is highly expressed in skeletal and cardiac muscle, where it is essential for rapid ATP production during contraction. Deficiency due to biallelic mutations leads to glycogen storage disease type X, with symptoms including myopathy, exercise intolerance, and elevated creatine kinase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGAM2 Knockout HEK293 Cell Line | EDJ-KQ50512 | Human | 5224 | Details Get a Quote |
| PGAM2 Knockout HeLa Cell Line | EDJ-KQ54126 | Human | 5224 | Details Get a Quote |
| PGAM2 Knockout A-549 Cell Line | EDJ-KQ62616 | Human | 5224 | Details Get a Quote |
| PGAM2 Knockout HCT 116 Cell Line | EDJ-KQ71088 | Human | 5224 | Details Get a Quote |
