• Gene id: 4191

Gene Summary

• Gene Symbol: MDH2   Gene   UCSC   Ensembl
• Aliases: EIEE51, M-MDH, MDH, MGC:3559, MOR1
• Gene name: malate dehydrogenase 2
• Alternate names: malate dehydrogenase, mitochondrial, malate dehydrogenase 2, NAD (mitochondrial), testicular tissue protein Li 120,
• Gene location: 7q11.23 (76048105: 76067507)     Exons: 10     NC_000007.14
• Gene summary(Entrez): 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-
• OMIM: 154100

Protein Summary

• Protein general information: P40926  
  • Name: Malate dehydrogenase, mitochondrial (EC 1.1.1.37)
  • Length: 338  
  • Mass: 35503
• Sequence:

  MLSALARPASAALRRSFSTSAQNNAKVAVLGASGGIGQPLSLLLKNSPLVSRLTLYDIAHTPGVAADLSHIETKA
  AVKGYLGPEQLPDCLKGCDVVVIPAGVPRKPGMTRDDLFNTNATIVATLTAACAQHCPEAMICVIANPVNSTIPI
  TAEVFKKHGVYNPNKIFGVTTLDIVRANTFVAELKGLDPARVNVPVIGGHAGKTIIPLISQCTPKVDFPQDQLTA
  LTGRIQEAGTEVVKAKAGAGSATLSMAYAGARFVFSLVDAMNGKEGVVECSFVKSQETECTYFSTPLLLGKKGIE
  KNLGIGKVSSFEEKMISDAIPELKASIKKGEDFVKTLK

• Structural information:
  • Interpro: IPR001557  IPR022383  IPR001236  IPR015955  IPR001252   IPR010097  IPR036291  
  • Prosite: PS00068
  • PDB: 2DFD 4WLE 4WLF 4WLN 4WLO 4WLU 4WLV
  • PDBsum: 2DFD 4WLE 4WLF 4WLN 4WLO 4WLU 4WLV
  • STRING: ENSP00000327070
• Other Databases: GeneCards:  MDH2  Malacards:  MDH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030060	L-malate dehydrogenase activity	IBA	molecular function
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0009060	aerobic respiration	IDA	biological process
GO:0030060	L-malate dehydrogenase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0016615	malate dehydrogenase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006108	malate metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0016615	malate dehydrogenase activity	IEA	molecular function
GO:0006734	NADH metabolic process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0030060	L-malate dehydrogenase activity	IEA	molecular function
GO:0046554	malate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0043621	protein self-association	IEA	molecular function
GO:0006108	malate metabolic process	IEA	biological process
GO:0006107	oxaloacetate metabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0030060	L-malate dehydrogenase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0006108	malate metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0030060	L-malate dehydrogenase activity	IMP	molecular function
GO:0006108	malate metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00270	Cysteine and methionine metabolism
hsa00620	Pyruvate metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881