FOXF2

Chr 6

forkhead box F2

Also known as: FKHL6, FREAC-2, FREAC2

NCBI Gene: 2295 ENSG00000137273 UniProt: Q12947

FOXF2 encodes a transcription factor that activates lung-specific genes and regulates protein degradation pathways including CTNNB1 ubiquitination. Mutations cause developmental disorders with variable features that may include intellectual disability and developmental delays, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that FOXF2 haploinsufficiency is likely not well tolerated.

ResearchSummary from RefSeq, UniProt

FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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