DYRK2
Chr 12dual specificity tyrosine phosphorylation regulated kinase 2
DYRK2 encodes a serine/threonine protein kinase that regulates mitotic cell cycle progression, cell proliferation, apoptosis, and neurite outgrowth through phosphorylation of multiple substrates including p53, tau, and cytoskeletal proteins. Mutations cause autosomal dominant intellectual disability and developmental delay, often with microcephaly and growth retardation. The gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.17), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
DYRK2 · 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