STOX2

Chr 4

storkhead box 2

NCBI Gene: 56977 ENSG00000173320 UniProt: Q9P2F5

The protein contains a Storkhead-box winged-helix domain and is differentially expressed in decidual tissue. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and growth restriction, typically with onset in infancy or early childhood. The gene shows high constraint against loss-of-function variants (LOEUF 0.425), suggesting intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq

This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

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

0.42

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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