STK38L

Chr 12

serine/threonine kinase 38 like

Also known as: NDR2

NCBI Gene: 23012 ENSG00000211455 UniProt: Q9Y2H1 OMIM: 615836

The protein is a serine/threonine kinase that regulates structural processes in differentiating and mature neuronal cells and negatively regulates autophagy through protein phosphorylation pathways. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and neurological features. The gene shows autosomal recessive inheritance and is highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in intracellular signal transduction and negative regulation of autophagy. Acts upstream of or within protein phosphorylation. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

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

0.35

LOEUF· LoF intol.

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Mechanism