CBR4

Chr 4

carbonyl reductase 4

Also known as: SDR45C1

NCBI Gene: 84869ENSG00000145439UniProt: Q8N4T8OMIM: 619394

Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in several processes, including daunorubicin metabolic process; doxorubicin metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.70
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.70LOEUF
pLI 0.000
Z-score 0.05
OE 0.98 (0.57–1.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.08Z-score
OE missense 0.98 (0.84–1.14)
120 obs / 122.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.57–1.70)
0≤0.351.4
Missense OE?0.98 (0.84–1.14)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 8 / 8.1Missense obs/exp: 120 / 122.4Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CBR4 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients