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FLASH GENE
Symbol BPGM contributors: mct - updated : 11-01-2007
HGNC name 2,3-bisphosphoglycerate mutase
HGNC id 1093
Corresponding disease
BPGMD 2,3-diphosphoglycerate mutase deficiency
Location 7q33      Physical location : 134.331.530 - 134.364.565
Synonym name
  • 2,3-bisphosphoglycerate mutase, erythrocyte
  • BPG-dependent PGAM
  • bisphosphoglycerate mutase
    • Synonym symbol(s) PMGE
    EC.number 5.4.2.4, 5.4.2.1, 3.1.3.13
    DNA
    TYPE functioning gene
    STRUCTURE 33.00 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1769 - 259 - Wang
    - - 2074 - 259 - Wang
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestiveesophagus    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta, umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Bpgm
    Homologene
    FAMILY
  • phosphoglycerate mutase family
  • BPG- dependent PGAM subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • Rapoport-Luebering shunt, major regulator of biphosphoglycerate concentration in erythrocyte and hemoglobin oxygen affinity
  • plays a key role in facilitating the supply of oxygen to tissues
  • trifunctional enzyme which displays synthase, mutase, and phosphatase activities
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS respiration
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BPGMD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS