IRF2

Chr 4

interferon regulatory factor 2

Also known as: IRF-2

NCBI Gene: 3660 ENSG00000168310 UniProt: P14316

Interferon regulatory factor 2 functions as a transcriptional regulator that primarily represses interferon and interferon-inducible genes while also activating histone H4 and IL7 expression. Mutations cause neurodevelopmental disorder with epilepsy, spasticity, and brain abnormalities, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating strong selective pressure for its normal function.

ResearchSummary from RefSeq, UniProt

IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [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

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P/LP missense

0.42

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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