FOXO3

Chr 6

forkhead box O3

Also known as: AF6q21, FKHRL1, FKHRL1P2, FOXO2, FOXO3A

NCBI Gene: 2309 ENSG00000118689 UniProt: O43524

This gene encodes a forkhead transcription factor that regulates apoptosis, autophagy, and mitochondrial DNA transcription by binding specific DNA sequences and activating target gene expression. Mutations in FOXO3 cause developmental delays, intellectual disability, and craniofacial abnormalities with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

454

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)