FOXP4

Chr 6

forkhead box P4

Also known as: hFKHLA

NCBI Gene: 116113 ENSG00000137166 UniProt: Q8IVH2

This transcription factor regulates tissue- and cell-specific gene expression during development and adulthood. Loss-of-function mutations cause neurodevelopmental disorders with an autosomal dominant inheritance pattern, as evidenced by the gene's extreme intolerance to loss-of-function variants (pLI = 0.98). The high constraint against variation (LOEUF = 0.31) indicates that haploinsufficiency is the likely pathogenic mechanism.

ResearchSummary from RefSeq, UniProt, Mechanism

This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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