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FLASH GENE
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
    Physical map
    HIP-55 7p13 src homology 3 domain-containing protein HIP-55 LOC393058 7 similar to OG-2 homeodomain protein-like; similar to U65067 (PID:g1575526) PGAM2 7p13-p12 phosphoglycerate mutase 2 (muscle) POLM 7p13 polymerase (DNA directed), mu LOC393059 7 similar to peptidyl-Pro cis trans isomerase AEBP1 7p15.1 AE binding protein 1 TPK1 7q34 thiamin pyrophosphokinase 1 POLD2 7p15.1 polymerase (DNA directed), delta 2, regulatory subunit 50kDa BLVRA 7p14-cen biliverdin reductase A MYL7 7p21-p11.2 myosin, light polypeptide 7, regulatory GCK 7p14-p13 glucokinase (hexokinase 4, maturity onset diabetes of the young 2) YKT6 7p15.1 SNARE protein Ykt6 CAMK2B 7p13 calcium/calmodulin-dependent protein kinase (CaM kinase) II beta MRPS24 7p14 mitochondrial ribosomal protein S24 URG4 7p13 up-regulated gene 4 LOC51619 7p13 ubiquitin-conjugating enzyme HBUCE1 LOC389486 7 similar to RAS p21 protein activator 4; GTPase activating protein-like; Ca2+-promoted Ras inactivator; calcium-promoted Ras inactivator WBSCR19 7q11.23 Williams Beuren syndrome chromosome region 19 KIAA1068 7p13-p12 Williams Beuren syndrome chromosome region 19 LOC392023 7 similar to RasGAP-activating-like protein 2 (Calcium-promoted Ras inactivator) HIP-55 7p13 src homology 3 domain-containing protein HIP-55 PGAM2 7p13-p12 phosphoglycerate mutase 2 (muscle) POLM 7p13 polymerase (DNA directed), mu AEBP1 7p15.1 AE binding protein 1 POLD2 7p15.1 polymerase (DNA directed), delta 2, regulatory subunit 50kDa MYL7 7p21-p11.2 myosin, light polypeptide 7, regulatory NPC1L1 7p13 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 GCK 7p14-p13 glucokinase (hexokinase 4, maturity onset diabetes of the young 2) DDX56 7p13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 YKT6 7p15.1 SNARE protein Ykt6 HNLF 7p13 putative NFkB activating protein HNLF CAMK2B 7p13 calcium/calmodulin-dependent protein kinase (CaM kinase) II beta OGDH 7p14-p13 oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) LOC393060 7 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC393061 7 similar to ribosomal protein L7
    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