Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MDH2 contributors: mct - updated : 03-03-2017
HGNC name malate dehydrogenase 2, NAD (mitochondrial)
HGNC id 6971
Corresponding disease
EIEE51 epileptic encephalopathy, early infantile, 51
Location 7q11.23      Physical location : 75.677.392 - 75.695.928
Synonym name
  • mitochondrial malate dehydrogenase
    • Synonym symbol(s) MDH-m, M-MDH, MDH, MGC:3559, MOR1
    EC.number 1.1.1.37
    DNA
    TYPE functioning gene
    STRUCTURE 19.49 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned   linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2268 - 338 - 2015 25766404
    8 - 2142 - 296 - 2015 25766404
    8 - 2099 - 231 - 2015 25766404
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivestomach   highly
    Lymphoid/Immunetonsils   highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mor1
    Homologene
    FAMILY
  • LDH family
  • MDH subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the eight step of citric acid cycle
  • acetylation of MDH2 was affected by the cellular energy state and subsequently regulated adipogenic differentiation
  • mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle
  • plays an essential role in the malate-aspartate NADH shuttle, which is the main pathway whereby reducing equivalents from cytosolic NADH are transferred to mitochondria
  • involved in citric acid cycle in mitochondria
  • MDH2 stimulated by estrogen, was involved in the development of PTEN-regulated endometrial carcinoma through GPER1-related pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE51
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in endometrial carcinoma tissues and related to the grade of the cancer
    tumoral germinal mutation      
    in malignant paragangliomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    a novel MDH2 inhibitor, compound 7, suppressed HIF1A accumulation via reduction of oxygen consumption and ATP production, integrating metabolism into anti-cancer efficacy in cancer cells
    ANIMAL & CELL MODELS