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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MDH2 Gene

protein-coding   GIFtS: 68
GCID: GC07P075677

Malate Dehydrogenase 2, NAD (Mitochondrial)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Malate Dehydrogenase 2, NAD (Mitochondrial)1 2     MGC:35592
EC 1.1.1.373 8     MOR12
M-MDH2     Malate Dehydrogenase, Mitochondrial2
MDH2     EC 1.1.18

External Ids:    HGNC: 69711   Entrez Gene: 41912   Ensembl: ENSG000001467017   OMIM: 1541005   UniProtKB: P409263   

Export aliases for MDH2 gene to outside databases

Previous GC identifers: GC07P074212 GC07P075275 GC07P075289 GC07P075322 GC07P075515 GC07P070763


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MDH2 Gene:
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor
system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play
pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and
mitochondria. Several transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Sep 2013)

GeneCards Summary for MDH2 Gene: 
MDH2 (malate dehydrogenase 2, NAD (mitochondrial)) is a protein-coding gene. Diseases associated with MDH2 include l-2-hydroxyglutaric aciduria, and 2-hydroxyglutaric aciduria, and among its related super-pathways are Citric acid cycle (TCA cycle) and glycolysis. GO annotations related to this gene include L-malate dehydrogenase activity and nucleotide binding.

Gene Wiki entry for MDH2 (Malate dehydrogenase 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MDH2 gene promoter:
         SREBP-1c   Pax-2   Pax-2a   SREBP-1b   SREBP-1a   POU2F1   POU2F1b   POU2F1a   POU2F1c   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMDH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MDH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7cen-q22   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

MDH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDH2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075677:  view genomic region     (about GC identifiers)

Start:
75,677,369 bp from pter      End:
75,696,826 bp from pter
Size:
19,458 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 75,010,457-75,028,995     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MDHM_HUMAN, P40926 (See protein sequence)
Recommended Name: Malate dehydrogenase, mitochondrial precursor  
Size: 338 amino acids; 35503 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
1 PDB 3D structure from and Proteopedia for MDH2:
2DFD (3D)    
Secondary accessions: A8K414 B2RE78 O43682

Explore the universe of human proteins at neXtProt for MDH2: NX_P40926

Explore proteomics data for MDH2 at MOPED 

Post-translational modifications:

  • UniProtKB: Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM)
    with the appearance of tri-and tetraacetylations. Glucose also increases acetylation by about 60% (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P40926

  • 4/12 DME Specific Peptides for MDH2 (P40926) (see all 12)
     FGVTTLD  GGIGQPL  RKPGMTR  SALARPA 

    MDH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MDH2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269332.1  NP_001269333.1  NP_005909.2  

    ENSEMBL proteins: 
     ENSP00000475583   ENSP00000327070   ENSP00000416929   ENSP00000408649  
    Reactome Protein details: P40926
    Human Recombinant Protein Products for MDH2: 
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    ProSpec Recombinant Protein for MDH2
    Cloud-Clone Corp. Proteins for MDH2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    MDH2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR001236 Lactate/malate_DH_N
     IPR022383 Lactate/malate_DH_C
     IPR010097 Malate_DH_type1
     IPR015955 Lactate_DH/Glyco_Ohase_4_C
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P40926

    ProtoNet protein and cluster: P40926

    1 Blocks protein domain: IPB001557 L-lactate dehydrogenase

    UniProtKB/Swiss-Prot: MDHM_HUMAN, P40926
    Similarity: Belongs to the LDH/MDH superfamily. MDH type 1 family


    MDH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MDHM_HUMAN, P40926
    Catalytic activity: (S)-malate + NAD(+) = oxaloacetate + NADH
    Enzyme regulation: Enzyme activity is enhanced by acetylation

         Genatlas biochemistry entry for MDH2:
    malate dehydrogenase,NAD,mitochondrial,catalyzing the eight step of citric acid cycle

         Enzyme Numbers (IUBMB): EC 1.1.1.371 2 EC 1.1.12

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding ----
    GO:0016491oxidoreductase activity ----
    GO:0016615malate dehydrogenase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
         
    MDH2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MDH2:
     Decreased nuclei size in G2M  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MDH2 
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    SwitchGear 3'UTR luciferase reporter plasmidMDH2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MDH2 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    Glycolysis and Gluconeogenesis0.60
    gluconeogenesis0.39
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    5glutamate degradation II
    aspartate degradation II0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MDH2
        Glycolysis and gluconeogenesis (short map)


    1 Cell Signaling Technology (CST) Pathway for MDH2
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for MDH2
        Glycolysis and gluconeogenesis (short map)

    5/6 BioSystems Pathways for MDH2 (see all 6)
        TCA Cycle
    Glycolysis and Gluconeogenesis
    gluconeogenesis
    TCA cycle
    aspartate degradation II

    5/7        Reactome Pathways for MDH2 (see all 7)
        Gluconeogenesis
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism of carbohydrates
    Metabolism
    Citric acid cycle (TCA cycle)


    5         Kegg Pathways  (Kegg details for MDH2):
        Citrate cycle (TCA cycle)
    Pyruvate metabolism
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism


    MDH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MDH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/264 Interacting proteins for MDH2 (P409262, 3 ENSP000003270704) via UniProtKB, MINT, STRING, and/or I2D (see all 264)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006107oxaloacetate metabolic process IEA--

    MDH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MDH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MDH2 (MDHM)

    5 HMDB Compounds for MDH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Malic acid(-)-(S)-Malate (see all 27)97-67-6--
    Malic acid2-Hydroxybutanedioic acid (see all 24)6915-15-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Oxalacetic acid2-Ketosuccinate (see all 20)328-42-7--

    2 DrugBank Compounds for MDH2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17203264 16898590 17603759 17487443 17619232
    Citric Acid-- 77-92-9target--10592235

    10/55 Novoseek inferred chemical compound relationships for MDH2 gene (see all 55)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malate 95 192 20465256 (4), 1567375 (3), 20075069 (3), 2268429 (3) (see all 99)
    oxaloacetate 80.4 17 17603759 (2), 8841108 (1), 16154636 (1), 20465256 (1) (see all 13)
    pyrroloquinoline quinone 71.5 12 10933491 (3), 12686102 (1), 17149777 (1), 9342331 (1) (see all 5)
    isocitrate 66.4 8 8010517 (1), 2073051 (1), 1944769 (1), 8825442 (1) (see all 8)
    6-phosphogluconate 66.2 5 8825442 (1), 1471744 (1), 18817779 (1), 7737089 (1) (see all 5)
    phenazine methosulfate 60.4 2 12442893 (1)
    nad+ 57.8 8 20465256 (3), 1944769 (1), 9125501 (1), 8825442 (1)
    pyruvate 55.8 6 15138892 (1), 19041385 (1), 18772936 (1), 18628998 (1) (see all 5)
    lactate 55.1 31 2346762 (1), 8575611 (1), 10959121 (1), 2073051 (1) (see all 27)
    alpha-ketoglutarate 54.7 9 17603759 (4), 15337301 (1), 19041385 (1), 11997255 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about MDH2 / MDHM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MDH2 gene (3 alternative transcripts): 
    NM_001282403.1  NM_001282404.1  NM_005918.3  

    Unigene Cluster for MDH2:

    Malate dehydrogenase 2, NAD (mitochondrial)
    Hs.520967  [show with all ESTs]
    Unigene Representative Sequence: AK095803
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461263 ENST00000315758(uc003ueo.3 uc011kgh.2 uc003uep.3)
    ENST00000443006 ENST00000461665 ENST00000490105 ENST00000432020 ENST00000492663
    ENST00000424167
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF047470.1 AK095803.1 AK290779.1 AK293460.1 AK316587.1 BC001917.1 CR536548.1 

    24/41 DOTS entries (see all 41):

    DT.92462104  DT.100882955  DT.100882934  DT.92462113  DT.100882929  DT.100882941  DT.99928406  DT.95210853 
    DT.92462112  DT.100882942  DT.75101660  DT.92062998  DT.100882931  DT.91666438  DT.97778454  DT.95210862 
    DT.92462126  DT.100839374  DT.100758956  DT.91852003  DT.121058872  DT.100882915  DT.100882925  DT.100882944 

    24/1070 AceView cDNA sequences (see all 1070):

    BU581662 AI914909 CR604994 AA193079 AU104722 AW510725 BM746732 AW008724 
    AL043601 BU501418 AI146300 BE873960 BQ642845 CR615128 BX462568 CR603586 
    BP430051 AA613824 CB141120 BM987470 F04876 CR611271 BI752850 BU157968 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MDH2 expression in normal human tissues (normalized intensities)      MDH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCCAAAT
    MDH2 Expression
    About this image


    MDH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See MDH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MDH2

    SOURCE GeneReport for Unigene cluster: Hs.520967
        SABiosciences Expression via Pathway-Focused PCR Arrays including MDH2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MDH2 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mdh21 , 5 malate dehydrogenase 2, NAD (mitochondrial)1, 5 85.21(n)1
    94.97(a)1
      5 (75.40 cM)5
    174481  NM_008617.21  NP_032643.21 
     1357784805 
    chicken
    (Gallus gallus)
    Aves MDH21 malate dehydrogenase 2, NAD (mitochondrial) 78.93(n)
    89.02(a)
      417517  XM_415765.3  XP_415765.1 
    lizard
    (Anolis carolinensis)
    Reptilia MDH26
    Malate dehydrogenase
    80(a)
    1 ↔ 1
    GL343734.1(92695-105640)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.260832 Xenopus laevis transcribed sequence with moderate similarity more 75.65(n)    BU903160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.258682 Danio rerio cDNA clone MGC64133 IMAGE6796842, complete more 77.84(n)    BC053272.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79983
    Mdh21
    L-malate dehydrogenase3
    Malate dehydrogenase 21
    59(a)
    (best of 3)3
    62.76(n)1
    59.76(a)1
      90F63
    421851  NM_142439.21  NP_650696.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mdh-13
    mdh-21
    malate dehydrogenase3
    Protein MDH-21
    59(a)3
    58.59(n)1
    57.98(a)1
      III(6678586-6679863)3
    1759361  NM_066056.41  NP_498457.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDH1(YKL085W)4
    MDH31
    Mitochondrial malate dehydrogenase, catalyzes interconversion more4
    Mdh3p1
    52.4(n)1
    48.04(a)1
      11(279123-280127)4
    8514811  NP_010205.11  8537774 
     NP_012838.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons mMDH11 malate dehydrogenase 1 58.76(n)
    57.36(a)
      841757  NM_104202.2  NP_564625.1 
    rice
    (Oryza sativa)
    Liliopsida Os.262062 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.91(n)    AK067105.1 


    ENSEMBL Gene Tree for MDH2 (if available)
    TreeFam Gene Tree for MDH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/566 SNPs in MDH2 are shown (see all 566)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0477874
    ----see VAR_0477872 A V mis40--------
    rs348933641,2
    C--70761969(+) GTCCCC/TTGAAT 1 -- us2k16Minor allele frequency- T:0.21NA EA 248
    rs715211081,2
    C--70764865(+) ACTGC-/G/G   
      GGGGGG
    GGGGG
    1 -- int11NA 2
    rs69507301,2
    C,A--75675659(+) gtgtgC/TgCGCG 1 -- int10--------
    rs675608531,2
    C--75686331(+) CTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2
    rs1486398091,2
    --78982727(+) TCCCGA/CTAGGA 1 -- us2k10--------
    rs1828293941,2
    --78982743(+) TTTGGC/GCTTTT 1 -- us2k10--------
    rs286344261,2
    C--78982913(+) CTGCTC/G/TTGTGT 1 -- us2k13NA CSA 5
    rs767840961,2
    C--78982993(+) CGCGCA/GCGCTT 1 -- us2k10--------
    rs132403961,2
    C,H--78983004(+) TTGAGA/CCGGAG 1 -- us2k110Minor allele frequency- C:0.01NS EA NA WA CSA 650

    HapMap Linkage Disequilibrium report for MDH2 (75677369 - 75696826 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MDH2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    nsv888386CNV Gain21882294
    nsv428173CNV Gain18775914
    nsv528969CNV Gain19592680
    essv14753CNV CNV17122850
    dgv2103e1CNV Complex17122850
    dgv2104e1CNV Complex17122850
    dgv2105e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 154100    OMIM disorders: --

    20/32 diseases for MDH2 (see all 32):    About MalaCards
    l-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria    gastroenteritis    sleeping sickness
    leishmaniasis    cutaneous leishmaniasis    portal hypertension    typhus
    echinococcosis    gastric ulcer    acute myocardial infarction    encephalomyopathy
    endocarditis    vitiligo    uveitis    myocardial infarction
    tuberculosis    myelodysplastic syndromes    atopic dermatitis    ulcerative colitis


    MDH2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for MDH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leishmaniasis 23.2 1 2091345 (1)
    gastroenteritis 2.63 1 11769565 (1)
    tumors 0.883 5 10652389 (4)
    acute myocardial infarction 0 2 2378131 (1), 2330742 (1)
    tuberculosis 0 3 8959151 (2)

    Genetic Association Database (GAD): MDH2
    Human Genome Epidemiology (HuGE) Navigator: MDH2 (2 documents)

    Export disorders for MDH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MDH2 gene, integrated from 9 sources (see all 244):
    (articles sorted by number of sources associating them with MDH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. (PubMed id 17603759)1, 7, 9 Rzem R....Veiga-da-Cunha M. (2007)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Aggregation states of mitochondrial malate dehydrogenase. (PubMed id 9792106)1, 9 Sanchez S.A....Jameson D.M. (1998)
    8. Tom20-mediated mitochondrial protein import in muscle cells during differentiation. (PubMed id 11029287)1, 9 Grey J.Y....Hood D.A. (2000)
    9. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (2013)
    10. A Proteomics Strategy for the Identification of FAT10- Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4191 HGNC: 6971 AceView: MDH2 Ensembl:ENSG00000146701 euGenes: HUgn4191
    ECgene: MDH2 Kegg: 4191 H-InvDB: MDH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MDH2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Malate_dehydrogenase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MDH2 gene:
    Search GeneIP for patents involving MDH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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