FOXP2 (Forkhead box protein P2) variants and mutations

FOXP2 (also known as Forkhead box protein P2) is a human protein-coding gene encoding a forkhead box protein P2 protein. It controls gene networks required for development and plasticity of neural circuits involved in speech, language, and coordinated orofacial movements. Heterozygous pathogenic variants cause childhood apraxia of speech with variable language and motor abnormalities. This analysis covers 1,056 FOXP2 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes childhood apraxia of speech, hereditary disease, and attention deficit-hyperactivity disorder. Example FOXP2 variants include M1?, M2I, and Q3P.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable FOXP2 variants

Examples include M1?, M2I, Q3P, Q3R, E4G, E4E, S5Y, A6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.