HSF2

Chr 6

heat shock transcription factor 2

Also known as: HSF 2, HSTF 2

NCBI Gene: 3298 ENSG00000025156 UniProt: Q03933

HSF2 encodes a transcription factor that binds to heat shock promoter elements and activates transcription of heat shock response genes under stress conditions. Mutations cause autosomal dominant developmental delay, seizures, and brain malformations with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants (pLI = 0.98, LOEUF = 0.32), indicating that even single functional copies are critical for normal neurodevelopment.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

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)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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