TAOK2

Chr 16

TAO kinase 2

Also known as: MAP3K17, PSK, PSK1, PSK1-BETA, TAO1, TAO2, Tao2beta

NCBI Gene: 9344 ENSG00000149930 UniProt: Q9UL54

TAOK2 encodes a serine/threonine kinase that activates p38 MAPK signaling pathways, regulates microtubule organization, and controls cellular responses to DNA damage and osmotic stress. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, autism spectrum disorder, and developmental delay. This gene is highly constrained against loss-of-function variants, indicating that TAOK2 is essential for normal human development.

ResearchSummary from RefSeq, UniProt

Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; cytosol; and nuclear lumen. Part of receptor complex. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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