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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
  • Malate Dehydrogenase, Mitochondrial 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, NAD (Mitochondrial)) is a Protein Coding gene. Diseases associated with MDH2 include l-2-hydroxyglutaric aciduria and 2-hydroxyglutaric aciduria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein self-association and malate dehydrogenase (NADP+) activity.

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

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 Lys78 and Lys301
  • Modification sites at PhosphoSitePlus

Other Protein References for MDH2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MDH2 Gene

Graphical View of Domain Structure for InterPro Entry

P40926

UniProtKB/Swiss-Prot:

MDHM_HUMAN :
  • P40926
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

Phenotypes for MDH2 Gene

GenomeRNAi human phenotypes for MDH2:
genes like me logo Genes that share phenotypes with MDH2: view

Animal Model Products

CRISPR 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 Targeting 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 5
nucleus 4
plasma membrane 4
chloroplast 3
cytosol 2
endoplasmic reticulum 2
peroxisome 2
vacuole 2
cytoskeleton 1
extracellular 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 --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MDH2: view

Pathways 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

Compounds for MDH2 Gene

(5) HMDB Compounds for MDH2 Gene

Compound Synonyms Cas Number PubMed IDs
L-Malic acid
  • (-)-(S)-Malate
97-67-6
Malic acid
  • 2-Hydroxybutanedioic acid
6915-15-7
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Oxalacetic acid
  • 2-Ketosuccinate
328-42-7

(2) Drugbank Compounds for MDH2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Citric Acid
77-92-9 target
NADH
  • beta-DPNH
606-68-8 target

(55) Novoseek inferred chemical compound relationships for MDH2 Gene

Compound -log(P) Hits PubMed IDs
malate 95 117
oxaloacetate 80.4 14
pyrroloquinoline quinone 71.5 7
isocitrate 66.4 8
6-phosphogluconate 66.2 5
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (5.5).

Integrated Proteomics: protein expression 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 expressions with MDH2: view

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia MDH2 35
  • 99.51 (n)
  • 99.7 (a)
MDH2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MDH2 36
  • 73 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia MDH2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDH2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mdh2 35
  • 85.4 (n)
  • 94.38 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.26083 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh2 35
  • 74.46 (n)
  • 84.02 (a)
Str.1699 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5113 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25868 35
mdh2 35
  • 76.46 (n)
  • 84.87 (a)
mdh2 36
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001903 35
  • 65.57 (n)
  • 65.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10748 36
  • 43 (a)
OneToMany
CG10749 36
  • 46 (a)
OneToMany
Mdh2 35
  • 62.76 (n)
  • 59.76 (a)
Mdh2 36
  • 59 (a)
OneToMany
CG10748 37
  • 45 (a)
CG7998 37
  • 59 (a)
CG10749 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea mdh-2 35
  • 58.59 (n)
  • 57.98 (a)
mdh-2 36
  • 56 (a)
OneToOne
mdh-1 37
  • 59 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR152C 35
  • 57.22 (n)
  • 52.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDH1 35
  • 53.5 (n)
  • 54.63 (a)
MDH1 36
  • 54 (a)
OneToOne
MDH1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25960g 35
  • 54.37 (n)
  • 55 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.82 35
thale cress
(Arabidopsis thaliana)
eudicotyledons mMDH1 35
  • 58.76 (n)
  • 57.36 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.702 35
corn
(Zea mays)
Liliopsida Zm.2061 35
rice
(Oryza sativa)
Liliopsida Os.26206 35
Os01g0649100 35
  • 58.86 (n)
  • 59.16 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1039 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 intestinalis)
Ascidiacea Cin.4779 35
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
rs8200 -- 76,067,288(+) TCTAG(C/G)AATAG utr-variant-3-prime
rs10256 -- 76,066,295(+) CGAGA(A/G)GAACC reference, missense
rs10476 -- 76,067,102(+) ACGCC(A/G)TGCTG utr-variant-3-prime
rs867973 -- 76,056,689(+) AGGAC(A/G)TTTTC intron-variant
rs869804 -- 76,059,636(-) CCAAT(C/T)GATCC 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

Relevant External Links for MDH2 Gene

HapMap Linkage Disequilibrium report
MDH2

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

Disorders for MDH2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for MDH2 Gene including...

Search for MDH2 Gene in MalaCards »

(5) Novoseek inferred disease relationships for MDH2 Gene

Disease -log(P) Hits PubMed IDs
leishmaniasis 23.2 1
gastroenteritis 2.63 1
tumors 0.883 4
acute myocardial infarction 0 2
tuberculosis 0 2

Relevant External Links for MDH2

Genetic Association Database (GAD)
MDH2
Human Genome Epidemiology (HuGE) Navigator
MDH2
genes like me logo Genes that share disorders with MDH2: view

No data available for UniProtKB/Swiss-Prot 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) 3 23 25
  2. 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
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Aggregation states of mitochondrial malate dehydrogenase. (PMID: 9792106) SA!nchez S.A. … Jameson D.M. (Protein Sci. 1998) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MDH2 Gene

  • Addgene plasmids for MDH2

Sources for MDH2 Gene

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