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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]
MDH2 (Malate Dehydrogenase 2) is a Protein Coding gene. Diseases associated with MDH2 include Developmental And Epileptic Encephalopathy 51 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Glucose metabolism and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is LDHA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IBA,IDA | 16740313 |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.46
|
.35
|
2 | Citrate cycle (TCA cycle) |
.01
|
|
3 | Pyruvate metabolism and Citric Acid (TCA) cycle |
.01
|
|
4 | Metabolism |
.40
|
|
5 | Glucose / Energy Metabolism |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Citric acid | Approved, Vet_approved | Nutra | Target | 1584 | ||
NADH | Approved | Nutra | Target | 0 | ||
Xanthinol | Approved, Withdrawn | Pharma | Target, cofactor | 0 | ||
Fumaric acid | Experimental, Investigational | Pharma | Target | 0 | ||
Oxaloacetate Ion | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
|
|
||||
Oxalacetic acid |
|
328-42-7 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MDH2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MDH2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MDH2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mdh2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mdh2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MDH2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MDH2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MDH2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MDH2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mdh2 30 |
|
||
Str.1699 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.26083 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mdh2 30 31 |
|
OneToOne | |
Dr.25868 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5113 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001903 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mdh2 30 31 |
|
OneToMany | |
CG7998 32 |
|
|
|||
CG10749 31 32 |
|
OneToMany | |||
CG10748 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | mdh-1 32 |
|
|
|
mdh-2 30 31 |
|
OneToOne | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR152C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F25960g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MDH1 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | mMDH1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.82 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0649100 30 |
|
||
Os.26206 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.702 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.1039 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.2061 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04899 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC306.08c 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4030 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4779 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
983138 | Uncertain Significance: Epileptic encephalopathy, early infantile, 51 | 76,064,391(+) |
G/A NM_005918.4(MDH2):c.686G>A (p.Arg229Gln) |
MISSENSE | |
rs1057519566 | Pathogenic: Infantile encephalopathy; Epileptic encephalopathy, early infantile, 51. Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339] | 76,063,579(+) |
C/Tp.Pro207Leu NM_005918.4(MDH2):c.620C>T (p.Pro207Leu) |
MISSENSE | |
rs1057519567 | Pathogenic: Infantile encephalopathy; Epileptic encephalopathy, early infantile, 51 | 76,063,553(+) |
TG/T NM_005918.4(MDH2):c.596del (p.Gly199fs) |
FRAMESHIFT | |
rs111879470 | Benign: not provided | 76,058,064(+) |
G/A NM_005918.4(MDH2):c.415G>A (p.Val139Ile) |
MISSENSE | |
rs115117282 | Benign: not provided | 76,054,901(+) |
C/T NM_005918.4(MDH2):c.138C>T (p.Asn46=) |
SYNONYMOUS_VARIANT,INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
developmental and epileptic encephalopathy 51 |
|
|
hereditary paraganglioma-pheochromocytoma syndromes |
|
|
l-2-hydroxyglutaric aciduria |
|
|
2-hydroxyglutaric aciduria |
|
|
gastroenteritis |
|
|