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FLASH GENE
Symbol GPD2 contributors: mct/npt/pgu - updated : 15-05-2013
HGNC name glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
HGNC id 4456
Location 2q24.1      Physical location : 157.291.964 - 157.442.914
Synonym name mitochondrial glycerophosphate dehydrogenase
Synonym symbol(s) GDH2, GPD-M, GPDH-M, mtGPD
EC.number 1.1.99.5, 1.1.1.8
DNA
TYPE like-sequence
STRUCTURE 150.95 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure regulated by two somatic promoters, and a third testis-specific promoter
MAPPING cloned Y linked N status confirmed
regionally located tightly linked to D2S141
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 5820 81 727 expressed ubiquitously 2009 19011903
  • variant 2 or GPD2b
    • 17 - 6046 81 727 highly expressed in fetal and adult brain, kidney, and testis 2009 19011903
  • variant 1 or GPD2a
    • 20 - 2736 - 601 only in testis 2009 19011903
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Reproductivespermatid
    Reproductivespermatozoa
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two EF-hand calcium-binding domains
  • an FAD-binding domain
  • a conserved central element postulated to play a role in glycerol phosphate binding
    • conjugated FlavoP
    HOMOLOGY
    Homologene
    FAMILY
  • FAD dependent glycerol-3-phosphate dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text located on the outer surface of the inner mitochondrial membrane
    basic FUNCTION
  • essential component of the glycerol phosphate shuttle that transfers reduction equivalents from the cytosol into the mitochondrion
  • catalyzes the unidirectional conversion of glycerol-3-phosphate (G3P) to dihydroxyacetone phosphate with concomitant reduction of the enzyme-bound FAD
  • could be involved in mental retardation in some cases
  • enzymatic activity of GPD2 during sperm capacitation correlates positively with hyperactivation and acrosome reaction thus demonstrating that GPD2 may be required for this capacitation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate cancer cell lines
    constitutional   deletion    
    potential deletion in intellectual disability, mildly unusual face, and a pervasive developmental disorder
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS