FOXA2 (Hepatocyte nuclear factor 3-beta) variants and mutations

FOXA2 (also known as Hepatocyte nuclear factor 3-beta) is a human protein-coding gene encoding a hepatocyte nuclear factor 3-beta protein. It establishes and maintains transcriptional programs in endoderm-derived organs and the nervous system, including liver, pancreas, lung, and dopaminergic neurons. Heterozygous pathogenic variants can cause developmental disorders involving the pancreas, pituitary, and central nervous system. This analysis covers 868 FOXA2 variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes hypothyroidism, nodular goiter, and nontoxic goiter. Example FOXA2 variants include M1T, G3R, and G9E.

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, MaveDB, LitVar.

Notable FOXA2 variants

Examples include M1T, G3R, G9E, G9R, E11*, S13T, D14N, S17R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.