STK32C

Chr 10

serine/threonine kinase 32C

Also known as: PKE, YANK3

NCBI Gene: 282974 ENSG00000165752 UniProt: Q86UX6 OMIM: 621308

STK32C encodes a serine/threonine protein kinase that is highly expressed in the brain. Mutations cause autosomal recessive intellectual disability with early-onset seizures and developmental delay. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is poorly tolerated.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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

0.49

LOEUF

GOF

Mechanism· predicted