UQCRC2 Gene Summary [Human]
The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]
Details
| Type | Protein Coding |
| Official Symbol | UQCRC2 |
| Official Name | ubiquinol-cytochrome c reductase core protein 2 [Source:HGNC Symbol;Acc:HGNC:12586] |
| Ensembl ID | ENSG00000140740 |
| Bio databases IDs | |
| Aliases | ubiquinol-cytochrome c reductase core protein 2 |
| Synonyms | 1500004O06Rik, AURA11, Core 2, CORE protein 2 of COMPLEX III, Cytochrome b-c1 complex subunit 2, MC3DN5, MGC94368, Mitochondrial Core Protein2, QCR2, Rikubiquinol Cytochrome C Reductase Core Protein 2, ubiquinol-cytochrome c reductase core protein 2, Ubiquinol Cytochrome C Reductase Core Protein 2 Precursor, UQCR2, Uqcrc, UQRC2 |
| 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 UQCRC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquinol-cytochrome-c reductase
- binding protein
- enzyme
- protein binding
- Insulinase (Peptidase family M16)
- Peptidase M16 inactive domain
Pathways
Biological processes and signaling networks where the UQCRC2 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
- rheumatoid arthritis
- multiple sclerosis
- Huntington disease
- mitochondrial disorder
- bipolar disorder
- chronic sinusitis
- nuclear type 5 mitochondrial complex III deficiency
- Parkinson disease
- airway hyperresponsiveness
regulates
- reactive oxygen species
- MUC5AC
role in cell
- accumulation
- autophagy in
- generation in
- respiration
- autophagy
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
- interchromatin granule cluster fractions
- myelin enriched fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Plasma Membrane
- Mitochondria
- myofilaments
- mitochondrial membrane
- mitochondrial inner membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UQCRC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oxidative phosphorylation
- proteolysis
- cellular respiration
- mitochondrial electron transport, ubiquinol to cytochrome c
- aerobic respiration
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial respiratory chain complex III
- mitochondrial respiratory chain complex IV
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- metalloendopeptidase activity