Metazoan complexes |
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Emili & Marcotte labs |
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Details of PGAM2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| PGAM2 | PGAMM | P15259 | PGAM2_HUMAN | 5224 | ENSG00000164708 | Phosphoglycerate mutase 2 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. Note=The disease is caused by mutations affecting the gene represented in this entry. | 261670 |
Phenotypes
Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of the genitourinary system, Abnormality of the musculature, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, All, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced myalgia, Exercise intolerance, Functional motor problems., Mode of inheritance, Muscle cramps, Myalgia, Myoglobinuria, Myopathy, Phenotypic abnormality, Renal insufficiency, Rhabdomyolysis.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Pgam2 | Pglym78... | --- | SPU_000111 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
ALDOA | PGAM2 | 0.268694474 | ALDOA | PGAM2 | cpx118 | no | yes | no | Known |
GAPDH | PGAM2 | 0.940147619 | GAPDH | PGAM2 | cpx342; cpx117 | no | yes | yes | Known |
ALDOC | PGAM2 | 0.242390654 | ALDOC | PGAM2 | cpx118 | no | yes | no | Known |