NDUFC2 Gene Summary [Human]
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NDUFC2 |
| Official Name | NADH:ubiquinone oxidoreductase subunit C2 [Source:HGNC Symbol;Acc:HGNC:7706] |
| Ensembl ID | ENSG00000151366 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit C2, human lung cancer oncogene 1, complex I subunit B14.5b |
| Synonyms | 1810004I06RIK, 2010300P09Rik, B14.5b, CI-B14.5b, DKFZP564K112, G1, HLC-1, MC1DN36, NADHDH2, NADH:ubiquinone oxidoreductase subunit C2 |
| 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 NDUFC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2)
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric epithelial cancer
- Leigh syndrome
- nuclear type 36 mitochondrial complex I deficiency
- gastric carcinoma
- androgenic alopecia
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- mitochondrial disorder
- colorectal carcinoma
- colorectal carcinomagenesis
regulates
- reactive oxygen species
- adenosine triphosphate
- Mitochondrial ETC 1
- NFkB (complex)
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
- Plasma Membrane
- Mitochondria
- secretory granule membrane
- mitochondrial inner membrane
- lysosome membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 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
- cytoplasm
- mitochondrion
- azurophil granule membrane
- mitochondrial inner membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- NADH dehydrogenase (ubiquinone) activity