FOXN2

Chr 2

forkhead box N2

Also known as: HTLF

NCBI Gene: 3344 ENSG00000170802 UniProt: P32314

The encoded protein is a forkhead domain transcription factor that binds to purine-rich DNA sequences and regulates gene transcription. Mutations cause autosomal recessive intellectual disability with speech delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [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)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429