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Aliases for MDH2 Gene

Aliases for MDH2 Gene

  • Malate Dehydrogenase 2 2 3 5
  • Malate Dehydrogenase 2, NAD (Mitochondrial) 2 3
  • EC 1.1.1.37 4 61
  • Malate Dehydrogenase, Mitochondrial 3
  • Testicular Tissue Protein Li 120 3
  • MGC:3559 3
  • EC 1.1.1 61
  • EIEE51 3
  • 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 Epileptic Encephalopathy, Early Infantile, 51 and Gastroenteritis. Among its related pathways are Citrate cycle (TCA cycle) and Glucose 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G076104 1.4 Ensembl ENCODE 27.8 +59.5 59494 5.1 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 STYXL1 MDH2 CCL26 ENSG00000230882 STAG3L1 SRRM3 RHBDD2 SPDYE18 ENSG00000213549 RNU6-863P
GH07G076008 1.6 Ensembl ENCODE dbSUPER 18.7 -37.4 -37369 4.6 SIN3A ZNF2 ZBTB7B ZNF766 ZNF207 ZNF263 REST TBX21 SMARCA4 GLIS1 STYXL1 STAG3L1 NSUN5P1 DTX2P1 MDH2 ENSG00000230882 SNORA14A POR RHBDD2 CCL24
GH07G076068 1.1 Ensembl ENCODE 24.4 +21.5 21473 1.5 PKNOX1 RB1 NFIB TBL1XR1 SIN3A NFXL1 RAD21 ZNF121 SCRT2 RCOR1 STYXL1 MDH2 CCL24 ENSG00000230882 SRRM3 LOC541473 GC07M076128 PIR44690 PIR46411
GH07G076162 1.8 FANTOM5 Ensembl ENCODE 12.6 +117.1 117119 4.9 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 STYXL1 ENSG00000230882 SPDYE18 MDH2 STAG3L1 FAM185BP CCL26 UPK3B POR RHBDD2
GH07G076070 0.8 Ensembl ENCODE 24.2 +23.4 23399 1.0 RING1 CBX3 CBX1 L3MBTL2 ZBTB33 RBFOX2 TRIM28 STYXL1 MDH2 LOC100133091 NSUN5P1 SPDYE18 SRRM3 CCL24 TRIM73 STAG3L1 ENSG00000230882
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000213855 81 2201 HNRNPUL1 PKNOX1 FOXA2 MLX ARNT CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A

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

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:
    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

Selected DME Specific Peptides for MDH2 Gene

P40926:
  • PRKPGMTR
  • GGIGQPL
  • SALARPA
  • RANTFVAE
  • FGVTTLD
  • RKPGMTR
  • IPAGVPRKPG
  • VPVIGGH
  • GSATLSMA
  • FVAELKG
  • AIPELKASIKKGEDFVK
  • ETECTYFSTPLLLGKKG

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%.
  • Ubiquitination at posLast=7878 and posLast=301301
  • Glycosylation at posLast=3333
  • Modification sites at PhosphoSitePlus

Other Protein References for MDH2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MDH2 (MDH2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for MDH2

Assay Products

  • Cloud-Clone Corp Assay Kits for MDH2
  • Abcam assays for 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:0003723 RNA binding IDA 22658674
GO:0003824 catalytic activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016615 malate dehydrogenase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDH2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA,IDA 16740313
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
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:0005975 carbohydrate metabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006108 malate metabolic process IMP 6576816
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Vet_approved Nutra Agonist, Activator, Target 1160
NADH Nutra Target 0
malic acid Pharma Agonist, Activator 0
NAD Pharma Full agonist, Agonist 0

(36) 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
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MDH2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MDH2 Gene



Protein tissue co-expression partners for MDH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MDH2 Gene:

MDH2

SOURCE GeneReport for Unigene cluster for MDH2 Gene:

Hs.520967

Evidence on tissue expression from TISSUES for MDH2 Gene

  • Lung(4.8)
  • Nervous system(4.8)
  • Kidney(4.7)
  • Liver(4.7)
  • Muscle(3.9)
  • Skin(3.9)
  • Intestine(3.8)
  • Heart(3.5)
  • Pancreas(3.2)
  • Eye(2.6)
  • Stomach(2.6)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with MDH2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia MDH2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MDH2 34 35
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Mdh2 34
  • 85.4 (n)
mouse
(Mus musculus)
Mammalia Mdh2 34 16 35
  • 85.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MDH2 35
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MDH2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDH2 34 35
  • 78.93 (n)
lizard
(Anolis carolinensis)
Reptilia MDH2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdh2 34
  • 74.46 (n)
Str.1699 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26083 34
zebrafish
(Danio rerio)
Actinopterygii mdh2 35 34
  • 76.46 (n)
OneToOne
Dr.25868 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5113 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001903 34
  • 65.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mdh2 34 35
  • 62.76 (n)
CG7998 36
  • 59 (a)
CG10749 36 35
  • 51 (a)
CG10748 36 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea mdh-1 36
  • 59 (a)
mdh-2 34 35
  • 58.59 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR152C 34
  • 57.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25960g 34
  • 54.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDH1 34 35 37
  • 53.5 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons mMDH1 34
  • 58.76 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.82 34
rice
(Oryza sativa)
Liliopsida Os01g0649100 34
  • 58.86 (n)
Os.26206 34
barley
(Hordeum vulgare)
Liliopsida Hv.702 34
corn
(Zea mays)
Liliopsida Zm.2061 34
wheat
(Triticum aestivum)
Liliopsida Ta.1039 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04899 34
  • 60.47 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC306.08c 34
  • 54.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4030 35
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4779 34
Species where no ortholog for MDH2 was found in the sources mined by GeneCards:
  • 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
VAR_078001 Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
VAR_078002 Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
VAR_078003 Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]
rs1057519566 Pathogenic 76,063,579(+) CATCC(C/T)CCTGA reference, missense
rs1057519567 Pathogenic 76,063,555(+) TGGTG(-/G)CCATG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv11459n54 CNV loss 21841781
dgv120n16 CNV deletion 17901297
esv3613754 CNV gain 21293372
nsv1033450 CNV loss 25217958
nsv428173 CNV gain 18775914
nsv528969 CNV gain 19592680

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)
MDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDH2

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

Disorders for MDH2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MDH2 Gene - From: ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 51
  • eiee51
gastroenteritis
  • cholera morbus
l-2-hydroxyglutaric aciduria
  • l-2-hydroxyglutaric acidemia
anemia, sideroblastic, with ataxia
  • anemia, sideroblastic, and spinocerebellar ataxia
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)
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. Regulation of cellular metabolism by protein lysine acetylation. (PMID: 20167786) Zhao S. … Guan K.L. (Science 2010) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. (PMID: 17603759) Rzem R. … Veiga-da-Cunha M. (J. Inherit. Metab. Dis. 2007) 3 22 64
  5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64

Products for MDH2 Gene

  • Addgene plasmids for MDH2

Sources for MDH2 Gene

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