TAOK2
Chr 16TAO kinase 2
Also known as: MAP3K17, PSK, PSK1, PSK1-BETA, TAO1, TAO2, Tao2beta
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
499 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 21 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 9 | 251 | 14 | 1 | 275 |
Likely Benign | 0 | 5 | 46 | 121 | 172 |
Benign | 0 | 2 | 1 | 2 | 5 |
Conflicting | — | 1 | |||
| Total | 10 | 258 | 82 | 124 | 475 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAOK2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools