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FLASH GENE
Symbol IDH2 contributors: mct - updated : 15-10-2014
HGNC name isocitrate dehydrogenase 2 (NADP+), mitochondrial
HGNC id 5383
Corresponding disease
D2HA2 D-2-hydroxyglutaric aciduria
Location 15q26.1      Physical location : 90.627.213 - 90.645.708
Synonym name
  • oxalosuccinate decarboxylase
  • NADP(+)-specific ICDH
  • Synonym symbol(s) ICD-M, IDH, IDHM, IDP, mNADP-IDH, IDPM, D2HGA2
    EC.number 1.1.1.42
    DNA
    TYPE functioning gene
    STRUCTURE 18.50 kb     11 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
    11 - 1740 - 452 - 1996 8954790
    - - 1560 - 322 - 1996 8954790
    - - 1578 - 400 - 1996 8954790
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Reproductivefemale systemuteruscervix highly
     male systemprostate  highly
    Urinarykidney   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • isocitrate and isopropylmalate dehydrogenases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • isocitrate dehydrogenase 2, NADPH dependent, catalyzing the third step of citric acid cycle
  • believed to control flux through the tricarboxylic acid cycle
  • important physiological role for its allosteric activation during changes in environmental conditions
  • increased IDH2-dependent carboxylation of glutamine-derived alpha-ketoglutarate in hypoxia is associated with a concomitant increased synthesis of 2-hydroxyglutarate (2HG) in cells with wild-type IDH1 and IDH2
  • IDH1 and IDH2 mutation impairs histone demethylation and results in a block to cell differentiation
  • IDH2 activities are a major factor in cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may tightly associate or interact with the pyruvate dehydrogenase complex
  • ability of SIRT3 to protect cells from oxidative stress was dependent on IDH2
  • cell & other
    REGULATION
    activated by SIRT3 (activates IDH2, thereby increasing NADPH levels in mitochondria)
    ASSOCIATED DISORDERS
    corresponding disease(s) D2HA2
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in acute myeloid leukemia and glioma
    tumoral somatic mutation      
    in chondrosarcoma
    tumoral somatic mutation      
    in giant cell tumor of bone
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismamino acids 
    inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients
    ANIMAL & CELL MODELS