STK25

Chr 2

serine/threonine kinase 25

Also known as: SOK1, YSK1

NCBI Gene: 10494 ENSG00000115694 UniProt: O00506 OMIM: 602255

STK25 encodes an oxidant stress-activated serine/threonine kinase that regulates protein transport at the Golgi apparatus, cell polarity, and migration, and functions as part of STRIPAK complexes that control multiple signaling pathways including Hippo, MAPK, and cytoskeleton remodeling. Mutations cause autosomal recessive primary microcephaly with seizures and intellectual disability. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.533), suggesting some tolerance to reduced gene dosage.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

OMIM 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

0.53

LOEUF

Multiple*

Mechanism· predicted