MDH2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MDH2 |
| Official Name | malate dehydrogenase 2 [Source:HGNC Symbol;Acc:HGNC:6971] |
| Ensembl ID | ENSG00000146701 |
| Bio databases IDs | |
| Aliases | malate dehydrogenase 2 |
| Synonyms | DEE51, EIEE51, Malate Dehydrogenase, Malate dehydrogenase 1 mitochondrial, malate dehydrogenase 2, Malate dehydrogenase 2 mitochondrial, malate dehydrogenase 2, NAD (mitochondrial), MDH, MGC:3559, M-MDH, MOR1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MDH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- malate dehydrogenase
- enzyme
- protein binding
- identical protein binding
- malate dehydrogenase, NAD-dependent
- L-malate dehydrogenase
- L-lactate dehydrogenase
- lactate/malate dehydrogenase, NAD binding domain
- protein homodimerization
- lactate/malate dehydrogenase, alpha/beta C-terminal domain
- chaperone binding
- malate dehydrogenase (NADP)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- Alzheimer disease
- early infantile epileptic encephalopathy type 51
- hereditary disorder
- paraganglioma
- paraganglioma formation
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
- hepatocellular carcinoma
- pheochromocytoma
regulates
- glyceraldehyde-3-phosphate
- succinic acid
- malic acid
- NADH
role in cell
- gluconeogenesis in
- respiration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- cellular membrane
- Mitochondria
- cytosol
- mitochondrial membrane
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MDH2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- oxaloacetate metabolic process
- NADH metabolic process
- malate metabolic process
- tricarboxylic acid cycle
- aerobic respiration
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- mitochondrial matrix
- cytoplasm
- mitochondrion
- membrane
Molecular Function
What the gene product does at the molecular level
- L-malate dehydrogenase activity
- RNA binding
- malate dehydrogenase (NADP+) activity