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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)
 Explore 33 diseases affiliated with
MDH2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MDH2    

Aliases
for MDH2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for MDH2 gene

(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:
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. (provided by RefSeq, Jul 2008)

Gene Wiki entry for MDH2 (Malate dehydrogenase 2)


Genomic Views
for MDH2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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 plasmid: MDH2 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: 7cen-q22

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     

Proteins
for MDH2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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)1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005909.2  
    ENSEMBL proteins: 
     ENSP00000327070   ENSP00000416929   ENSP00000408649  
    Reactome Protein details: P40926
    Human Recombinant Protein Products: 
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    Novus Biologicals MDH2 Proteins
    Novus Biologicals MDH2 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for MDH2
    Uscn 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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    Uscn ELISAs and CLIAs for MDH2

    Protein Domains /
    Families
    for MDH2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MDH2 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB001557 L-lactate dehydrogenase

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


    Function
    for MDH2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MDH2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MDH2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MDH2:
    hsa-miR-532-5p hsa-miR-1322
    SwitchGear 3'UTR luciferase reporter plasmid: MDH2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MDH2 (see all 7)
    OriGene shRNA RFP: MDH2
    OriGene siRNA: MDH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MDH2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MDH2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Cell Line
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    Search LifeMap BioReagents cell lines for MDH2

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0005515protein binding ----
    GO:0016615malate dehydrogenase activity ----
    GO:0030060L-malate dehydrogenase activity IMP6576816
    GO:0043621protein self-association IEA--


    MDH2 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for MDH2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    2Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    3Glucose metabolism
    		Glucose metabolism1.00
    		Gluconeogenesis0.50
    4Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    5TCA cycle II (eukaryotic)
    		TCA cycle II (eukaryotic)1.00
    		Citric acid cycle (TCA cycle)0.67

    Pathway sources
    See GeneCards unified pathways
    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) 
        SREBP signalling
    TCA Cycle
    Glycolysis and Gluconeogenesis
    TCA cycle II (eukaryotic)
    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)


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


    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)

    5/259 Interacting proteins for MDH2 (P409262, 3 ENSP000003270704) via UniProtKB, MINT, STRING, and/or I2D (see all 259)
    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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



    Drugs & Compounds
    for MDH2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for MDH2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MDH2 gene: 
    NM_005918.2  

    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

    miRNA
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    hsa-miR-532-5p hsa-miR-1322
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    24/42 DOTS entries (see all 42):

    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):

    BM741912 CR626170 AA192969 BQ423620 BQ440380 T31792 CR604994 AA193079 
    AU104722 BU581662 BM746732 AW510725 AW008724 AL043601 CD368004 AL560072 
    BM770781 CB141120 BG110607 AI914909 AA306903 BE795261 CR603586 BX462568 

    GeneLoc Exon Structure


    Expression
    for MDH2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTTCCAAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MDH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Endoderm-like cells (Generation of hepato...)

    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: 
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              Glucose Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for MDH2 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for MDH2 gene from 10/39 species (see all 39)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 87(a)
    		 1 ↔ 1
    		 GL343734.1(98457-105640)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria mdh6
    		 malate dehydrogenase, NAD(P)-binding
    		 58(a)
    		 1 ↔ 1
    		 Chromosome(3381352-3382290)


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

    Paralogs
    for MDH2 gene

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

    Genomic Variants
    for MDH2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/466 NCBI SNPs in MDH2 are shown (see all 466)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1486398091,2
    		--75675408(+) TCCCGA/CTAGGA 2 -- us2k1 int10--------
    rs1828293941,2
    		--75675424(+) TTTGGC/GCTTTT 2 -- us2k1 int10--------
    rs286344261,2
    		C,--75675594(+) CTGCTC/G/TTGTGT 2 -- int1 us2k13NA CSA 5
    rs601180081,2
    		C,--75675658(+) CGCGC-/GCGC  
      GCGCGC    TTTTG     		2 -- int1 us2k11Minor allele frequency- GCGCGCGCGC:0.50CSA 2
    rs1433325611,2
    		--75675658(+) TGTGT-/GCGCG 
     CGCGCGC    GCGCG     		2 -- int1 us2k10--------
    rs778110831,2
    		C--75675659(+) GTGTGC/TGCGCG 2 -- us2k1 int10--------
    rs767840961,2
    		C--75675674(+) CGCGCA/GCGCTT 2 -- int1 us2k10--------
    rs132403961,2
    		C,H,--75675685(+) TTGAGA/CCGGAG 2 -- int1 us2k110Minor allele frequency- C:0.01NS EA NA WA CSA 650
    rs1914592371,2
    		--75675690(+) CCGGAC/GTTTAG 2 -- int1 us2k10--------
    rs1836656801,2
    		--75675693(+) GAGTTC/TAGCTC 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for MDH2 (75677369 - 75696826 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MDH2
         2 CNVs: 3686 22956

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MDH2

    Disorders / Diseases
    for MDH2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MDH2 for disorders           About GeneDecksing

    OMIM gene information: 154100    OMIM disorders: --

    20/33 diseases for MDH2 (see all 33):    About MalaCards
    l-2-hydroxyglutaric aciduria    2-hydroxyglutaric aciduria    acute myocardial infarction    myocardial infarction
    sleeping sickness    cutaneous leishmaniasis    portal hypertension    leishmaniasis
    gastroenteritis    atopic dermatitis    ulcerative colitis    echinococcosis
    encephalomyopathy    squamous cell carcinoma    gastric ulcer    myelodysplastic syndrome
    dermatitis    vitiligo    endocarditis    uveitis

    2 diseases from the University of Copenhagen DISEASES database for MDH2:
    L-2-hydroxyglutaric aciduria     Typhus

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: MDH2 (2 documents)

    Export disorders for MDH2 gene to outside databases

    Publications
    for MDH2 gene

    (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 236):
    (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. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Aggregation states of mitochondrial malate dehydrogenase. (PubMed id 9792106)1, 9 Sanchez S.A....Jameson D.M. (1998)
    6. Tom20-mediated mitochondrial protein import in muscle cells during differentiation. (PubMed id 11029287)1, 9 Grey J.Y....Hood D.A. (2000)
    7. A catalogue of putative HIV-1 protease host cell subst rates. (PubMed id 22944692)1 Impens F....Gevaert K. (2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for MDH2 gene

    (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)

    Genome Databases showing MDH2 gene

    (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

    Other Databases showing MDH2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MDH2 gene

    (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

    Intellectual Property
    for MDH2 gene

    (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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