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FLASH GENE
Symbol PDHA2 contributors: mct - updated : 29-06-2022
HGNC name pyruvate dehydrogenase (lipoamide) alpha 2
HGNC id 8807
Corresponding disease
SPGF70 spermatogenic failure 70
Location 4q22.3      Physical location : 96.761.238 - 96.762.624
Synonym name
  • PDHE1-A type II
  • pyruvate dehydrogenase E1 component subunit alpha,
    • testis-specific form, mitochondrial
    Synonym symbol(s) PDHAL, MGC149517, MGC149518
    EC.number 1.2.4.1
    DNA
    TYPE functioning gene
    STRUCTURE 1.39 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • contains two CpG islands, one encompassing the core promoter region and extending into the open reading frame, the other exclusively located in the coding region
  • intronless
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text intronless
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1387 - 388 - 1990 2249846
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to PDHA1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • pyruvate dehydrogenase
  • potential substitute for PDHA1 if suitably expressed
  • methylation of the PDHA2 coding region can inhibit gene transcription (PMD: 22675509)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPGF70
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • could be used as a diagnostic marker in all cancer except bladder urothelial carcinoma and prostate adenocarcinoma
    • Therapy target
    ANIMAL & CELL MODELS