UQCRC2
Chr 16ARubiquinol-cytochrome c reductase core protein 2
Also known as: MC3DN5, QCR2, UQCR2
The protein is a core subunit of mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase), essential for cellular energy production through oxidative phosphorylation. Biallelic mutations cause mitochondrial complex III deficiency nuclear type 5, inherited in an autosomal recessive pattern. The pathogenic mechanism involves loss of protein function leading to impaired mitochondrial respiration.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UQCRC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools