CDK16
Chr Xcyclin dependent kinase 16
This X-linked serine/threonine protein kinase regulates vesicle-mediated transport, exocytosis, neuron differentiation, and insulin secretion, with particular roles in growth hormone release and spermatogenesis. Mutations cause X-linked intellectual disability with variable features that may include metabolic dysfunction and developmental delays. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant clinical phenotypes.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CDK16 · 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