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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
    Physical map
    LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) LOC392058 7 similar to opposite strand transcription unit to Stag3; Gats protein PMS2L2 7q11-q22 postmeiotic segregation increased 2-like 2 LOC222190 7q11.23 hypothetical gene supported by AK024602 DKFZP434A0131 7q11.23-q21.1 DKFZp434A0131 protein TRIM50B 7q11.23 tripartite motif-containing 50B WBSCR20B 7q11.23 tripartite motif-containing 50B LOC340318 7q11.23 hypothetical protein LOC340318 PMS2L9 7q11.23 postmeiotic segregation increased 2-like 9 HIP1 7q11.23 huntingtin interacting protein 1 CCL26 7q11.23 chemokine (C-C motif) ligand 26 CCL24 7q11.23 chemokine (C-C motif) ligand 24 LOC392059 7 similar to ALY NPD007 7q11.23 NPD007 protein POR 7q11.2 P450 (cytochrome) oxidoreductase TMPIT 7q11.23 transmembrane protein induced by tumor necrosis factor alpha MK-STYX 7q11.23 map kinase phosphatase-like protein MK-STYX MDH2 7cen-q22 malate dehydrogenase 2, NAD (mitochondrial) LOC389525 7 similar to hypothetical protein LOC285908 LOC392060 7 similar to GrpE protein homolog 1, mitochondrial precursor (Mt-GrpE#1) (HMGE) LOC392061 7 similar to GTF2I repeat domain containing 1 isoform 2; Williams-Beuren syndrome chromosome region 11; GTF2I repeat domain-containing 1; general transcription factor 3; muscle TFII-I repeat domain-containing protein 1 alpha 1 FLJ37078 7q11.23 hypothetical protein FLJ37078 HSPB1 7q11.23 heat shock 27kDa protein 1 YWHAG 7q11.23 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide LOC392062 7 similar to peptidylprolyl isomerase A SRCRB4D 7p12.3 scavenger receptor cysteine rich domain containing, group B (4 domains) ZP3 7q11.23 zona pellucida glycoprotein 3 (sperm receptor) DTX2 7p12.3 deltex homolog 2 (Drosophila) UPK3B 7q11.2 uroplakin 3B POMZP3 7q11.23 POM (POM121 homolog, rat) and ZP3 fusion LOC392063 7 similar to Farnesyl pyrophosphate synthetase (FPP synthetase) (FPS) (Farnesyl diphosphate synthetase) LOC370523 7q11.23 similar to deltex 2 LOC389526 7 hypothetical gene supported by AK024602 LOC389527 7 similar to PMS4 homolog mismatch repair protein - human LOC202802 7q11.23 similar to Williams Beuren syndrome chromosome region 19 FGL2 7q11.2 fibrinogen-like 2 LOC54103 7q21.11 hypothetical protein LOC54103 LOC392064 7 similar to hypothetical protein
    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