MT-ND2 Gene Summary [Human]
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ND2 |
| Official Name | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 [Source:HGNC Symbol;Acc:HGNC:7456] |
| Ensembl ID | ENSG00000198763 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2, complex I ND2 subunit, NADH-ubiquinone oxidoreductase chain 2 |
| Synonyms | Mitochondrial NADH dehydrogenase II, NADH dehydrogenase subunit 2, NADH-II, ND2 |
| 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 MT-ND2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- NADH dehydrogenase subunit 2 C-terminus
- Proton-conducting membrane transporter
- enzyme
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- ionotropic glutamate receptor binding
Pathways
Biological processes and signaling networks where the MT-ND2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- Leigh syndrome with complex I deficiency
- Leber optic atrophy
- mitochondrial disorder
- Leigh syndrome
- androgenic alopecia
- Mitochondrial complex I deficiency
- head and neck cancer
- nuclear type 1 mitochondrial complex I deficiency
- thyroid carcinoma
role in cell
- growth
- activation
- binding in
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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ND2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- reactive oxygen species metabolic process
- response to hypoxia
- transmembrane transport
- mitochondrial electron transport, NADH to ubiquinone
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- ionotropic glutamate receptor binding
- protein binding
- NADH dehydrogenase (ubiquinone) activity