TAOK2

Chr 16

TAO kinase 2

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

NCBI Gene: 9344ENSG00000149930UniProt: Q9UL54

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]

475
ClinVar variants
38
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— TAOK2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 281 VUS of 475 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.24LOEUF
pLI 1.000
Z-score 5.97
OE 0.13 (0.07–0.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.21Z-score
OE missense 0.67 (0.63–0.72)
518 obs / 768.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.13 (0.07–0.24)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.67 (0.63–0.72)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.08
0≤1.21.6
LoF obs/exp: 7 / 54.7Missense obs/exp: 518 / 768.4Syn Z: -1.09

ClinVar Variant Classifications

475 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
VUS281
Likely Benign151
Benign4
Conflicting1
38
Pathogenic
281
VUS
151
Likely Benign
4
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
0
0
0
VUS
5
251
24
1
281
Likely Benign
0
5
42
104
151
Benign
0
1
1
2
4
Conflicting
—1
Total5257105107475

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
TAO KINASE 2; TAOK2
MIM #613199 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N et al.·Genet Med
2025
Research progress on anti-tumor mechanism of TAOK kinases.
Li J et al.·Cell Signal
2024Review
Pan-cancer genetic profiles of mitotic DNA integrity checkpoint protein kinases.
Rasteh AM et al.·Cancer Biomark
2024
Multi-Omic Analysis of Esophageal Adenocarcinoma Uncovers Candidate Therapeutic Targets and Cancer-Selective Posttranscriptional Regulation.
O'Neill JR et al.·Mol Cell Proteomics
2024
Activity-dependent membrane sculpting deficits in TAOK1-linked neurodevelopmental disease.
Sampedro-Castañeda M et al.·Trends Neurosci
2023
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
Vysotskiy M et al.·Genome Med
2021
A novel age-informed approach for genetic association analysis in Alzheimer's disease.
Le Guen Y et al.·Alzheimers Res Ther
2021
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.
Gasparini VR et al.·Blood Cancer J
2020
Transcriptome analysis reveals gender-specific differences in overall metabolic response of male and female patients in lung adenocarcinoma.
Li Y et al.·PLoS One
2020Cohort
Deciphering the molecular tapestry of schizophrenia: integrating transcriptomics, neuroimaging, and clinical data for precision medicine.
Zhao JN et al.·Transl Psychiatry
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools