FOXA2

Chr 20

forkhead box A2

Also known as: HNF-3-beta, HNF3B, TCF3B

NCBI Gene: 3170 ENSG00000125798 UniProt: Q9Y261

This gene encodes a forkhead transcription factor that acts as a pioneer factor to open chromatin and regulate gene expression during embryonic development and in differentiated tissues, particularly in endoderm-derived organs including liver, pancreas, and lungs. Mutations cause maturity-onset diabetes of the young (MODY), which typically presents in adolescence or young adulthood with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.477), consistent with its essential role in pancreatic beta-cell function and glucose homeostasis.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

combined pituitary hormone deficiencies, genetic form · ADModerateconsider for supplementary testing

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

171

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted

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