Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MDH2 Gene

Aliases for MDH2 Gene

  • Malate Dehydrogenase 2 2 3 5
  • Malate Dehydrogenase 2, NAD (Mitochondrial) 2 3
  • EC 4 63
  • Testicular Tissue Protein Li 120 3
  • MGC:3559 3
  • EC 1.1.1 63
  • M-MDH 3
  • MOR1 3
  • MDH 3

External Ids for MDH2 Gene

Previous GeneCards Identifiers for MDH2 Gene

  • GC07P074212
  • GC07P075275
  • GC07P075289
  • GC07P075322
  • GC07P075515
  • GC07P075677
  • GC07P070763

Summaries for MDH2 Gene

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) is a Protein Coding gene. Diseases associated with MDH2 include L-2-Hydroxyglutaric Aciduria and Sleeping Sickness. Among its related pathways are Glycosaminoglycan metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include poly(A) RNA binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.

Gene Wiki entry for MDH2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDH2 Gene

Genomics for MDH2 Gene

Regulatory Elements for MDH2 Gene

Enhancers for MDH2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MDH2 on UCSC Golden Path with GeneCards custom track

Promoters for MDH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MDH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MDH2 Gene

76,048,019 bp from pter
76,067,508 bp from pter
19,490 bases
Plus strand

Genomic View for MDH2 Gene

Genes around MDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDH2 Gene

Proteins for MDH2 Gene

  • Protein details for MDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Malate dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K414
    • B2RE78
    • B4DE44
    • E9PDB2
    • O43682

    Protein attributes for MDH2 Gene

    338 amino acids
    Molecular mass:
    35503 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MDH2 Gene

    Alternative splice isoforms for MDH2 Gene


neXtProt entry for MDH2 Gene

Proteomics data for MDH2 Gene at MOPED

Post-translational modifications for MDH2 Gene

  • 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).
  • Ubiquitination at Lys 78 and Lys 301
  • Glycosylation at Ser 33
  • Modification sites at PhosphoSitePlus

Other Protein References for MDH2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MDH2 (MDH2)

Domains & Families for MDH2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LDH/MDH superfamily. MDH type 1 family.
  • Belongs to the LDH/MDH superfamily. MDH type 1 family.
genes like me logo Genes that share domains with MDH2: view

No data available for Gene Families for MDH2 Gene

Function for MDH2 Gene

Molecular function for MDH2 Gene

GENATLAS Biochemistry:
malate dehydrogenase,NAD,mitochondrial,catalyzing the eight step of citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-malate + NAD(+) = oxaloacetate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is enhanced by acetylation.

Enzyme Numbers (IUBMB) for MDH2 Gene

Gene Ontology (GO) - Molecular Function for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046554 malate dehydrogenase (NADP+) activity IEA --
genes like me logo Genes that share ontologies with MDH2: view
genes like me logo Genes that share phenotypes with MDH2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MDH2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MDH2 Gene

Localization for MDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDH2 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for MDH2 Gene COMPARTMENTS Subcellular localization image for MDH2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 16740313
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MDH2: view

Pathways & Interactions for MDH2 Gene

genes like me logo Genes that share pathways with MDH2: view

Gene Ontology (GO) - Biological Process for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006108 malate metabolic process IMP 6576816
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MDH2: view

No data available for SIGNOR curated interactions for MDH2 Gene

Drugs & Compounds for MDH2 Gene

(23) Drugs for MDH2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Nutra Agonist, Activator, Target 1044
NADH Nutra Target 0
malic acid Pharma Agonist, Activator 0
NAD Pharma Full agonist, Agonist 0

(37) Additional Compounds for MDH2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
L-Malic acid
  • (-)-(S)-Malate
  • (-)-(S)-Malic acid
  • (-)-Hydroxysuccinate
  • (-)-Hydroxysuccinic acid
  • (-)-L-Malic acid
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
genes like me logo Genes that share compounds with MDH2: view

Transcripts for MDH2 Gene

Unigene Clusters for MDH2 Gene

Malate dehydrogenase 2, NAD (mitochondrial):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MDH2 Gene

No ASD Table

Relevant External Links for MDH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MDH2 Gene

mRNA expression in normal human tissues for MDH2 Gene

mRNA differential expression in normal tissues according to GTEx for MDH2 Gene

This gene is overexpressed in Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for MDH2 Gene

This gene is overexpressed in Liver, secretome (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MDH2 Gene

SOURCE GeneReport for Unigene cluster for MDH2 Gene Hs.520967

genes like me logo Genes that share expression patterns with MDH2: view

Protein tissue co-expression partners for MDH2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MDH2 Gene

Orthologs for MDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MDH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia MDH2 35
  • 87.87 (n)
  • 93.2 (a)
MDH2 36
  • 63 (a)
(Mus musculus)
Mammalia Mdh2 35
  • 85.21 (n)
  • 94.97 (a)
Mdh2 16
Mdh2 36
  • 95 (a)
(Pan troglodytes)
Mammalia MDH2 35
  • 99.51 (n)
  • 99.7 (a)
MDH2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Mdh2 35
  • 85.4 (n)
  • 94.38 (a)
(Bos Taurus)
Mammalia MDH2 36
  • 73 (a)
(Monodelphis domestica)
Mammalia MDH2 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia MDH2 36
  • 79 (a)
(Gallus gallus)
Aves MDH2 35
  • 78.93 (n)
  • 89.02 (a)
MDH2 36
  • 89 (a)
(Anolis carolinensis)
Reptilia MDH2 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh2 35
  • 74.46 (n)
  • 84.02 (a)
Str.1699 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.26083 35
(Danio rerio)
Actinopterygii Dr.25868 35
mdh2 35
  • 76.46 (n)
  • 84.87 (a)
mdh2 36
  • 85 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5113 35
fruit fly
(Drosophila melanogaster)
Insecta CG10748 37
  • 45 (a)
CG10749 37
  • 51 (a)
CG7998 37
  • 59 (a)
Mdh2 35
  • 62.76 (n)
  • 59.76 (a)
CG10748 36
  • 43 (a)
CG10749 36
  • 46 (a)
Mdh2 36
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001903 35
  • 65.57 (n)
  • 65.97 (a)
(Caenorhabditis elegans)
Secernentea mdh-1 37
  • 59 (a)
mdh-2 35
  • 58.59 (n)
  • 57.98 (a)
mdh-2 36
  • 56 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR152C 35
  • 57.22 (n)
  • 52.96 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25960g 35
  • 54.37 (n)
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDH1 35
  • 53.5 (n)
  • 54.63 (a)
MDH1 36
  • 54 (a)
MDH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons mMDH1 35
  • 58.76 (n)
  • 57.36 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.82 35
(Hordeum vulgare)
Liliopsida Hv.702 35
(Oryza sativa)
Liliopsida Os.26206 35
Os01g0649100 35
  • 58.86 (n)
  • 59.16 (a)
(Triticum aestivum)
Liliopsida Ta.1039 35
(Zea mays)
Liliopsida Zm.2061 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4779 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04899 35
  • 60.47 (n)
  • 57.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC306.08c 35
  • 54.61 (n)
  • 53.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4030 36
  • 54 (a)
Species with no ortholog for MDH2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MDH2 Gene

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

Paralogs for MDH2 Gene

No data available for Paralogs for MDH2 Gene

Variants for MDH2 Gene

Sequence variations from dbSNP and Humsavar for MDH2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_047787 -
rs867973 -- 76,056,689(+) AGGAC(A/G)TTTTC intron-variant
rs869804 -- 76,059,636(-) CCAAT(C/T)GATCC intron-variant
rs869805 -- 76,059,278(+) GAAAT(C/G/T)TTCCG intron-variant
rs869806 -- 76,059,305(+) CTCAA(C/T)TGACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MDH2 Gene

Variant ID Type Subtype PubMed ID
nsv528969 CNV Gain 19592680
essv14753 CNV CNV 17122850
dgv120n16 CNV Deletion 17901297
dgv2103e1 CNV Complex 17122850
nsv428173 CNV Gain 18775914
dgv2104e1 CNV Complex 17122850
nsv888386 CNV Gain 21882294
dgv2105e1 CNV Complex 17122850

Variation tolerance for MDH2 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDH2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDH2 Gene

Disorders for MDH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MDH2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
l-2-hydroxyglutaric aciduria
  • l-2-hydroxyglutaric acidemia
sleeping sickness
  • african sleeping sickness
- elite association - COSMIC cancer census association via MalaCards
Search MDH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MDH2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MDH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDH2 Gene

Publications for MDH2 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. (PMID: 17603759) Rzem R. … Veiga-da-Cunha M. (J. Inherit. Metab. Dis. 2007) 3 23 25
  3. Tom20-mediated mitochondrial protein import in muscle cells during differentiation. (PMID: 11029287) Grey J.Y. … Hood D.A. (Am. J. Physiol., Cell Physiol. 2000) 3 23
  4. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  5. Aggregation states of mitochondrial malate dehydrogenase. (PMID: 9792106) SA!nchez S.A. … Jameson D.M. (Protein Sci. 1998) 3 23

Products for MDH2 Gene

Sources for MDH2 Gene