FOXO3B

Chr 17

forkhead box O3B

Also known as: FKHRL1P1, ZNF286C

FOXO3B encodes a transcription factor that regulates gene expression by binding to specific DNA sequences and controlling RNA polymerase II-mediated transcription. The protein is predicted to function in both the nucleus and mitochondrial matrix. No established disease associations or inheritance patterns have been reported for mutations in this gene.

OMIMResearchSummary from RefSeq, UniProt
Multiplemechanism

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.3694th %ile
GOF
0.6638th %ile
LOF
0.67top 25%

This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

LOFprediction above median
GOFprediction above median

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

FOXO3B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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