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FLASH GENE
Symbol ME2 contributors: mct - updated : 15-05-2013
HGNC name malic enzyme 2, NAD(+)-dependent, mitochondrial
HGNC id 6984
Location 18q21.1      Physical location : 48.405.431 - 48.476.160
Synonym name
  • mitochondrial pyruvic-matic carboxylase
  • mitochondrial malate oxidoreductase
  • NAD-dependent malic enzyme, mitochondrial
  • malate dehydrogenase
  • pyruvic-malic carboxylase
  • Synonym symbol(s) MAOM, ODS1
    EC.number 1.1.1.38
    DNA
    TYPE functioning gene
    STRUCTURE 70.73 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • AP2, AP1, SP1, CREB/AP-4 binding sites
  • proximal promoter region having features of housekeeping genes like high G + C-content and absence of TATA or CCAAT boxes
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4638 - 584 - 2013 23334421
    14 - 4468 - 479 - 2013 23334421
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas   highly Homo sapiensAdult
    Nervousbrain   highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY malic enzyme family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • mitochondrial NAD-dependent malic enzyme, catalyzing the oxidative decarboxylation of malate to pyruvate
  • converting malate to pyruvate and is involved in neuronal synthesis of the neurotransmitter gamma-aminobutyric acid (GABA)
  • ME1, ME2 use only NADP as a cofactor and have lower Kms for malate
  • ME1, ME2 are important for NADPH production, lipogenesis and glutamine metabolism, but ME2 has a more profound effect
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TP53 represses the expression of the tricarboxylic-acid-cycle-associated malic enzymes ME1 and ME2 in human and mouse cells
  • cell & other
    REGULATION
    inhibited by ATP
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    modulates the outcome of TP53 activation, leading to strong induction of senescence, but not apoptosis
    constitutional       gain of function
    suppresses senescence
    Susceptibility to adolescent-onset idiopathic generalized epilepsy
    Variant & Polymorphism SNP increases the risk for adolescent-onset idiopathic generalized epilepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS