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Aliases for MDH2 Gene

Aliases for MDH2 Gene

  • Malate Dehydrogenase 2, NAD (Mitochondrial) 2 3
  • EC 1.1.1.37 4 63
  • 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, NAD (Mitochondrial)) is a Protein Coding gene. Diseases associated with MDH2 include l-2-hydroxyglutaric aciduria and sleeping sickness. Among its related pathways are Metabolism and Glycosaminoglycan 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MDH2 Gene

Chromosome:
7
Start:
76,048,019 bp from pter
End:
76,067,508 bp from pter
Size:
19,490 bases
Orientation:
Plus strand

Genomic View for MDH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P40926-MDHM_HUMAN
    Recommended name:
    Malate dehydrogenase, mitochondrial
    Protein Accession:
    P40926
    Secondary Accessions:
    • A8K414
    • B2RE78
    • B4DE44
    • E9PDB2
    • O43682

    Protein attributes for MDH2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

P40926

UniProtKB/Swiss-Prot:

MDHM_HUMAN :
  • Belongs to the LDH/MDH superfamily. MDH type 1 family.
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:0003824 catalytic activity --
GO:0005515 protein binding --
GO:0016491 oxidoreductase activity --
GO:0016615 malate dehydrogenase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MDH2

In Situ Assay Products

Flow Cytometry Products

No data available for 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

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

Gene Ontology (GO) - Cellular Components for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 16740313
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006107 oxaloacetate metabolic process IEA --
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: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mannitol Approved, Investigational Pharma 220
Ornithine Approved Nutra Full agonist, Agonist 31
Formaldehyde Experimental Pharma 65
fructose Experimental Pharma 0
Glucose 6-phosphate Experimental Pharma 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
97-67-6
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
2,6-dichlorophenolindophenol
6-phosphogluconate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MDH2

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MDH2 Gene

GeneLoc Exon Structure for
MDH2
ECgene alternative splicing isoforms for
MDH2

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

In Situ Assay 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
dog
(Canis familiaris)
Mammalia MDH2 35
  • 87.87 (n)
  • 93.2 (a)
MDH2 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mdh2 35
  • 85.21 (n)
  • 94.97 (a)
Mdh2 16
Mdh2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MDH2 35
  • 99.51 (n)
  • 99.7 (a)
MDH2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mdh2 35
  • 85.4 (n)
  • 94.38 (a)
cow
(Bos Taurus)
Mammalia MDH2 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MDH2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDH2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDH2 35
  • 78.93 (n)
  • 89.02 (a)
MDH2 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDH2 36
  • 80 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii Dr.25868 35
mdh2 35
  • 76.46 (n)
  • 84.87 (a)
mdh2 36
  • 85 (a)
OneToOne
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)
OneToMany
CG10749 36
  • 46 (a)
OneToMany
Mdh2 36
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001903 35
  • 65.57 (n)
  • 65.97 (a)
worm
(Caenorhabditis elegans)
Secernentea mdh-1 37
  • 59 (a)
mdh-2 35
  • 58.59 (n)
  • 57.98 (a)
mdh-2 36
  • 56 (a)
OneToOne
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)
OneToOne
MDH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons mMDH1 35
  • 58.76 (n)
  • 57.36 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.82 35
barley
(Hordeum vulgare)
Liliopsida Hv.702 35
rice
(Oryza sativa)
Liliopsida Os.26206 35
Os01g0649100 35
  • 58.86 (n)
  • 59.16 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1039 35
corn
(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)
OneToOne
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

ENSEMBL:
Gene Tree for MDH2 (if available)
TreeFam:
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 MAF
VAR_047787 -
rs779914039 -- 76,061,684(+) GCGCA(A/G)GTGTA intron-variant
rs779553888 -- 76,054,221(+) CTTTC(A/G)CAACG intron-variant
rs778965412 -- 76,064,459(+) GCCCC(A/G/T)GGGCT intron-variant
rs778676119 -- 76,054,346(+) TTGCC(A/G)CAACC 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

HapMap Linkage Disequilibrium report
MDH2
Human Gene Mutation Database (HGMD)
MDH2

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

Disorders for MDH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MDH2 Gene - From: NovoSeek and GeneCards

Disorder Aliases PubMed IDs
l-2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
sleeping sickness
  • african sleeping sickness
gastroenteritis
  • infectious colitis, enteritis and gastroenteritis
- elite association
Search MDH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MDH2

Genetic Association Database (GAD)
MDH2
Human Genome Epidemiology (HuGE) Navigator
MDH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDH2
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. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. (PMID: 17603759) Rzem R. … Veiga-da-Cunha M. (J. Inherit. Metab. Dis. 2007) 23 25 67
  2. Development of 5-benzylpaullones and paullone-9-carboxylic acid alkyl esters as selective inhibitors of mitochondrial malate dehydrogenase (mMDH). (PMID: 19906467) Becker A. … Kunick C. (Eur J Med Chem 2010) 23 67
  3. Cross-talk between mitochondrial malate dehydrogenase and the cytochrome bc1 complex. (PMID: 20075069) Wang Q. … Yu C.A. (J. Biol. Chem. 2010) 23 67
  4. Hydroimidazolone modification of human alphaA-crystallin: Effect on the chaperone function and protein refolding ability. (PMID: 20085807) Gangadhariah M.H. … Nagaraj R.H. (Biochim. Biophys. Acta 2010) 23 67
  5. Kinetics of myoglobin redox form stabilization by malate dehydrogenase. (PMID: 20465256) Mohan A. … Houser T.A. (J. Agric. Food Chem. 2010) 23 67

Products for MDH2 Gene

Sources for MDH2 Gene

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