Homo sapiens Gene: PGAM2
Summary
InnateDB Gene IDBG-14138.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PGAM2
Gene Name phosphoglycerate mutase 2 (muscle)
Synonyms GSD10; PGAM-M; PGAMM
Species Homo sapiens
Ensembl Gene ENSG00000164708
Encoded Proteins
phosphoglycerate mutase 2 (muscle)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:44062727-44065587
Strand Reverse strand
Band p13
Transcripts
ENST00000297283 ENSP00000297283
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004082 bisphosphoglycerate mutase activity
GO:0004083 bisphosphoglycerate 2-phosphatase activity
GO:0004619 phosphoglycerate mutase activity
GO:0005515 protein binding
GO:0016868 intramolecular transferase activity, phosphotransferases
GO:0046538 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity
GO:0048037 cofactor binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006941 striated muscle contraction
GO:0007283 spermatogenesis
GO:0010035 response to inorganic substance
GO:0016311 dephosphorylation
GO:0044281 small molecule metabolic process
GO:0046689 response to mercury ion
Cellular Component
GO:0005634 nucleus
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Glycolysis pathway
Gluconeogenesis pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Glycine, serine and threonine metabolism pathway
INOH
Glycolysis Gluconeogenesis pathway
PID NCI
Cross-References
SwissProt P15259
TrEMBL
UniProt Splice Variant
Entrez Gene 5224
UniGene Hs.632642
RefSeq NM_000290
HUGO HGNC:8889
OMIM 612931
CCDS CCDS34624
HPRD
IMGT
EMBL BC001904 BC073741 J05073 M18172 M55673 M55674
GenPept AAA60072 AAA60073 AAA64238 AAH01904 AAH73741
RNA Seq Atlas 5224