Entity Details

Primary name PGAM2
Entity type gene
Source Source Link

Details

PrimaryID5224
RefseqGeneNG_013016
SymbolPGAM2
Namephosphoglycerate mutase 2
Chromosome7
Location7p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPGAM2_HUMAN

GO terms

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GOName
GO:0004082 bisphosphoglycerate mutase activity
GO:0004619 phosphoglycerate mutase activity
GO:0005634 nucleus
GO:0005829 cytosol
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006941 striated muscle contraction
GO:0007219 Notch signaling pathway
GO:0007283 spermatogenesis
GO:0016787 hydrolase activity
GO:0042802 identical protein binding
GO:0046538 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity
GO:0046689 response to mercury ion
GO:0061621 canonical glycolysis
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
261670 OMIMGlycogen storage disease 10 (GSD10)A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. The disease is caused by variants affecting the gene represented in this entry.