UQCRC2 Gene
Ubiquinol-Cytochrome c Reductase Core Protein 2
Gene Information Card
| Symbol | UQCRC2 |
|---|---|
| Full Name | Ubiquinol-Cytochrome c Reductase Core Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 7385 ncbi.nlm.nih.gov/gene/7385 |
| Ensembl ID | ENSG00000140740 |
| UniProt ID | P22695 |
| OMIM ID | 191329 |
| HGNC ID | 12586 |
| Aliases | QCR2, UQCR2, MC3DN5, CIII-2 |
Description
UQCRC2 encodes core protein 2 of the ubiquinol-cytochrome c reductase (complex III) in the mitochondrial respiratory chain. This protein is essential for electron transfer from ubiquinol to cytochrome c and contributes to the structural integrity of the bc1 complex. Mutations in UQCRC2 cause mitochondrial complex III deficiency, nuclear type 5 (MC3DN5), characterized by lactic acidosis, hypotonia, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) | Loss-of-function mutations impair complex III assembly and activity, reducing ATP production and causing metabolic acidosis. | ClinVar, OMIM |
| Leigh syndrome | Deficient complex III activity leads to energy failure in the brainstem and basal ganglia. | ClinVar, OMIM |
| Cardiomyopathy | Impaired mitochondrial respiration in cardiac muscle due to complex III dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.1 | High |
| Liver | 15.3 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.4 | High expression |
| HeLa | 25.7 | High expression |
| HepG2 | 20.1 | Medium expression |
| K562 | 18.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.418C>T (p.Arg140Trp) | Missense | Rare | Loss of complex III activity; associated with MC3DN5 |
| c.548G>A (p.Arg183Gln) | Missense | Rare | Impaired protein stability and complex assembly |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish UQCRC2 protein function, leading to complex III deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial electron transport (GO:0006122) | • mitochondrial respiratory chain complex III (GO:0005750) |
| • metal ion binding (GO:0046872) | • ubiquinol-cytochrome-c reductase activity (GO:0008121) |
Pathways
• KEGG hsa00190 – Oxidative phosphorylation
• Reactome R-HSA-611105 – Respiratory electron transport
• Reactome R-HSA-163200 – Formation of ATP by chemiosmotic coupling
Protein Summary
UQCRC2 is a 453-amino acid core protein of mitochondrial complex III (cytochrome bc1 complex). It contains a mitochondrial targeting sequence and is processed to the mature form. The protein binds a zinc ion and is required for proper assembly and catalytic activity of the complex. Defects cause mitochondrial encephalopathy and multisystem disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCRC2 Knockout HEK293 Cell Line | EDJ-KQ6003 | Human | 7385 | Details Get a Quote |
| UQCRC2 Knockout A-549 Cell Line | EDJ-KQ29601 | Human | 7385 | Details Get a Quote |
| UQCRC2 Knockout HCT 116 Cell Line | EDJ-KQ29602 | Human | 7385 | Details Get a Quote |
| UQCRC2 Knockout HeLa Cell Line | EDJ-KQ29603 | Human | 7385 | Details Get a Quote |
