PGAM2 phosphoglycerate mutase 2 (muscle) [Homo sapiens (human)]
| Gene Symbol | PGAM2 |
| Entrez Gene ID | 5224 |
| Full Name | phosphoglycerate mutase 2 (muscle) |
| Synonyms | GSD10, MGC88743, PGAM-M, PGAMM |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
7 7p13-p12 |
| Summary | Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq]. |
| Disorder | MIM: 612931 Glycogen storage disease X, 261670 (3) |
| mRNA | NM_000290, 259490363 |
| Protein | NP_000281, 50593010 |
| Product | phosphoglycerate mutase 2 |
| RefSeq Status | REVIEWED |
| hsa01100 | Metabolic pathways |
| hsa00010 | Glycolysis / Gluconeogenesis |
WikiPathways
| WP534 | Glycolysis and Gluconeogenesis |
Reactome
| REACT_1383 | Glycolysis |
| REACT_474 | Metabolism of carbohydrates |
| REACT_1520 | Gluconeogenesis |
| REACT_723 | Glucose metabolism |
| Homo sapiens (human) | PGAM2 | NP_000281.2 |
| Pan troglodytes (chimpanzee) | PGAM2 | XP_001143059.1 |
| Canis lupus familiaris (dog) | PGAM2 | XP_532718.1 |
| Bos taurus (cattle) | PGAM2 | NP_001033200.1 |
| Mus musculus (house mouse) | Pgam2 | NP_061358.1 |
| Rattus norvegicus (Norway rat) | Pgam2 | NP_059024.1 |
| Danio rerio (zebrafish) | pgam2 | NP_957318.1 |
| Drosophila melanogaster (fruit fly) | Pglym87 | NP_652041.2 |
| ID | Name | Evidence |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0006006 | glucose metabolic process | TAS |
| GO:0006094 | gluconeogenesis | TAS |
| GO:0006096 | glycolysis | IMP |
| GO:0006096 | glycolysis | TAS |
| GO:0006941 | striated muscle contraction | IMP |
| GO:0007283 | spermatogenesis | IEA |
| GO:0010035 | response to inorganic substance | IEA |
| GO:0046689 | response to mercury ion | IEA |
Component
| ID | Name | Evidence |
| GO:0005575 | cellular_component | ND |
| GO:0005625 | soluble fraction | IEA |
| GO:0005634 | nucleus | IEA |
| GO:0005829 | cytosol | TAS |
Function
| ID | Name | Evidence |
| GO:0004082 | bisphosphoglycerate mutase activity | IEA |
| GO:0004083 | 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity | IEA |
| GO:0004619 | phosphoglycerate mutase activity | IMP |
| GO:0016787 | hydrolase activity | IEA |
| GO:0016853 | isomerase activity | IEA |
| GO:0046538 | 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity | IEA |
| GO:0048037 | cofactor binding | IEA |
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