HASPIN
Chr 17histone H3 associated protein kinase
Also known as: GSG2
HASPIN encodes a serine/threonine kinase that phosphorylates histone H3 at threonine-3 during mitosis and positions the chromosomal passenger complex at centromeres to ensure proper chromosome segregation and cell cycle progression. Mutations cause autosomal recessive developmental delay with seizures and dysmorphic features. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HASPIN · 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