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Symbol PGAM2 contributors: mct - updated : 22-03-2008
HGNC name phosphoglycerate mutase 2 (muscle)
HGNC id 8889
Corresponding disease
PGAM2 myopathy, exercise-related
Location 7p13      Physical location : 44.102.326 - 44.105.186
Synonym name
  • muscle-specific phosphoglycerate mutase
  • phosphoglycerate mutase isozyme M
  • BPG-dependent PGAM 2
    • Synonym symbol(s) PGAMM, PMGM, MGC88743, PGAM-M, GSD10
    EC.number 5.4.2.1, 3.1.3.13, 5.4.2.4
    DNA
    TYPE functioning gene
    STRUCTURE 2.84 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 888 - 253 - Hadjigeorgiou (1999)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Pgam2
    Homologene
    FAMILY
  • phosphoglycerate mutase family
  • BPG- dependent PGAM subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • role in the regulation of the energy balance and in the glycogen metabolism and glycolysis of the skeletal muscle
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PGAM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS