UQCRC2

Chr 16

ubiquinol-cytochrome c reductase core protein 2

Also known as: MC3DN5, QCR2, UQCR2

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex III deficiency, nuclear type 5

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
0
Active trials
33
Pubs (1 yr)
P/LP submissions
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — UQCRC2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.19
OE 0.52 (0.340.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.95Z-score
OE missense 0.83 (0.740.93)
207 obs / 249.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.340.83)
00.351.4
Missense OE?0.83 (0.740.93)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 13 / 24.8Missense obs/exp: 207 / 249.3Syn Z: 0.64

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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