HIPK3
Chr 11homeodomain interacting protein kinase 3
Also known as: DYRK6, FIST3, PKY, YAK1
The protein is a serine/threonine kinase that regulates transcription, apoptosis, and steroidogenic gene expression by phosphorylating key targets including JUN, RUNX2, and NR5A1. Mutations cause autosomal recessive intellectual disability with developmental delay, seizures, and dysmorphic features. This gene is highly constrained against loss-of-function variants (LOEUF 0.367), suggesting that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HIPK3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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