TAOK2

TAO kinase 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000149930
OMIM:
613199
Synonyms:
HKFC-C, KIAA0881, MAP3K17, PSK, PSK-1, PSK1, PSK1-BETA, TAO1, TAO2, TAO2BETA

Phenotypes

Human ciliopathy phenotype:
Autism spectrum disorder associated with 16p11.2 copy number variation.

Ciliopathy associations

  • Autism Spectrum Disorder

References: PMID:40882641

Subcellular localization

basal body, Nucleoplasm, Nucleoli, Cytosol

References: PMID:40882641

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).