TAOK2

Phenotypes

Human ciliopathy phenotype:

Autism spectrum disorder associated with 16p11.2 copy number variation.

Ciliopathy associations

• Autism Spectrum Disorder

Subcellular localization

basal body, Nucleoplasm, Nucleoli, Cytosol

Functional category

• Non-motile cilium / primary cilium
• Signaling (Hedgehog
• GPCRs
• ion channels)

Function

TAOK2 protein kinase regulates primary cilium length. NPCs from 16p11.2 deletion carriers show longer primary cilia; duplication carriers show stunted cilia. TAOK2-deficient NPCs exhibit elongated cilia, aberrant IFT88 and pericentrin accumulation, and impaired Sonic Hedgehog signaling (Byeon et al. 2025, PMID 40882641).