HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UQCC2
ubiquinol-cytochrome c reductase complex assembly factor 2
Chromosome 6 Β· 6p21.31
NCBI Gene: 84300Ensembl: ENSG00000137288.11HGNC: HGNC:21237UniProt: Q9BRT2
38PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrionregulation of oxidative phosphorylationpositive regulation of mitochondrial translationIsolated CoQ-cytochrome C reductase deficiencyrheumatoid arthritismitochondrial complex III deficiencyneurodegenerative disease
✦AI Summary

UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2) is essential for assembling mitochondrial respiratory chain complex III (cytochrome b-c1 complex) 1. The protein functions early in complex III assembly, upstream of UQCC3, and is required for proper cytochrome b stability and integration into the holocomplex 2. UQCC2 regulates oxidative phosphorylation, directly impacting ATP production and oxygen consumption 3, processes critical for skeletal muscle differentiation and pancreatic beta-cell insulin secretion. Additionally, miR-663 directly regulates UQCC2 expression to maintain respiratory supercomplex stability 3, and UQCC2 cooperates with SMIM4 and UQCC1 in early complex III biogenesis linked to the mitochondrial translation machinery 4. Loss-of-function mutations in UQCC2 cause mitochondrial complex III deficiency, a severe multisystem disorder presenting with lactic acidosis, hypoglycemia, developmental delays, and combined respiratory chain deficiency affecting complexes I and III 1. UQCC2 variants are also associated with ADHD susceptibility in genome-wide studies 5, suggesting broader neurodevelopmental roles beyond classical mitochondrial disease.

Sources cited
1
UQCC2 is a complex III assembly factor whose deficiency causes combined respiratory chain deficiency with reduced complex I and III activity
PMID: 28804536
2
UQCC2 functions upstream of UQCC3 in complex III assembly and is required for cytochrome b stability
PMID: 25008109
3
miR-663 directly regulates UQCC2 expression and is required for respiratory supercomplex stability and OXPHOS complex activity
PMID: 29066618
4
UQCC2 interacts with SMIM4, C12ORF73, and UQCC1 to support initial complex III biogenesis and links early assembly to the mitochondrial translation machinery
PMID: 34969438
5
UQCC2 common variants are associated with ADHD risk in a genome-wide association study
PMID: 35052433
Disease Associationsβ“˜21
Isolated CoQ-cytochrome C reductase deficiencyOpen Targets
0.73Strong
rheumatoid arthritisOpen Targets
0.38Weak
mitochondrial complex III deficiencyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
sarcoidosisOpen Targets
0.31Weak
Alzheimer diseaseOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.27Weak
multiple sclerosisOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.27Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.21Weak
Hodgkins lymphomaOpen Targets
0.18Weak
endometrial carcinomaOpen Targets
0.15Weak
chronic hepatitis B virus infectionOpen Targets
0.13Weak
otosclerosisOpen Targets
0.13Weak
Charcot-Marie-Tooth disease, demyelinating, type 1JOpen Targets
0.12Weak
COVID-19Open Targets
0.07Suggestive
celiac diseaseOpen Targets
0.07Suggestive
VitiligoOpen Targets
0.06Suggestive
plexiform neurofibromaOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
Mitochondrial complex III deficiency, nuclear type 7UniProt
Pathogenic Variants2
NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)Pathogenic
Mitochondrial complex III deficiency nuclear type 7
β˜†β˜†β˜†β˜†2023β†’ Residue 34
NM_032340.4(UQCC2):c.214-3C>GPathogenic
Mitochondrial complex III deficiency nuclear type 7
β˜†β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
COX20Protein interaction89%UQCC3Protein interaction59%UQCC1Protein interaction53%UQCC4Shared pathway20%RMND1Shared pathway20%TACO1Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Liver
42%
Brain
38%
Ovary
24%
Bone Marrow
23%
Lung
21%
Gene Interaction Network
Click a node to explore
UQCC2COX20UQCC3UQCC1UQCC4RMND1TACO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BRT2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.40LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.96 [0.68–1.40]
RankingsWhere UQCC2 stands among ~20K protein-coding genes
  • #10,571of 20,598
    Most Researched38
  • #4,477of 5,498
    Most Pathogenic Variants2
  • #14,483of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedUQCC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.
PMID: 36350267
J Gene Med Β· 2023
1.00
2
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
PMID: 25008109
Hum Mol Genet Β· 2014
0.90
3
Combined Respiratory Chain Deficiency and
PMID: 28804536
Oxid Med Cell Longev Β· 2017
0.80
4
Epigenetic modification of miR-663 controls mitochondria-to-nucleus retrograde signaling and tumor progression.
PMID: 29066618
J Biol Chem Β· 2017
0.70
5
Transcriptome analysis for UVB-induced phototoxicity in mouse retina.
PMID: 29044990
Environ Toxicol Β· 2018
0.60