UQCC2 Gene: Role in Mitochondrial Complex III Assembly and Disease
Explore the UQCC2 gene, its protein product, associated diseases, expression patterns, and clinical significance.
Gene Information Card
| Symbol | UQCC2 |
|---|---|
| Full Name | ubiquinol-cytochrome c reductase complex assembly factor 2 |
| Gene Type | protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 84309 ncbi.nlm.nih.gov/gene/84309 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q9BRT2 |
| OMIM ID | 614552 |
| HGNC ID | 21237 |
| Aliases | C6orf125, MGC10986 |
Description
UQCC2 encodes a chaperone protein essential for the assembly of mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase). It is localized in the mitochondrial inner membrane and interacts with UQCC1 to facilitate the incorporation of cytochrome b into the complex. Defects in UQCC2 cause mitochondrial complex III deficiency, leading to a range of clinical symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 6 | Loss-of-function mutations impair complex III assembly, leading to respiratory chain dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Liver | 10.5 | Medium |
| Skeletal Muscle | 8.3 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HepG2 | 9.8 | Liver cancer cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98*) | Nonsense | Rare | Premature stop codon, loss of function |
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of translation initiation |
| c.377G>A (p.Arg126His) | Missense | Rare | Potential impact on protein function |
Mutation functional classification
Loss of Function (LOF)
Most reported UQCC2 mutations are loss-of-function, leading to complex III deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex III assembly | • protein binding |
| • mitochondrion | • mitochondrial inner membrane |
Pathways
• Mitochondrial complex III assembly
• Respiratory electron transport
Protein Summary
The UQCC2 protein is a 16.8 kDa chaperone localized to the mitochondrial inner membrane. It forms a complex with UQCC1 and UQCC3 to assist in the post-translational insertion of cytochrome b into complex III. It is essential for the stability and function of complex III, and its deficiency leads to mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCC2 Knockout HEK293 Cell Line | EDJ-KQ3090 | Human | 84300 | Details Get a Quote |
| UQCC2 Knockout A-549 Cell Line | EDJ-KQ24397 | Human | 84300 | Details Get a Quote |
| UQCC2 Knockout HCT 116 Cell Line | EDJ-KQ24398 | Human | 84300 | Details Get a Quote |
| UQCC2 Knockout HeLa Cell Line | EDJ-KQ24399 | Human | 84300 | Details Get a Quote |
