HASPIN

Chr 17

histone H3 associated protein kinase

Also known as: GSG2

NCBI Gene: 83903 ENSG00000177602 UniProt: Q8TF76 OMIM: 609240

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables ATP binding activity and histone H3T3 kinase activity. Involved in several processes, including mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint signaling; and protein localization to chromosome, centromeric region. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

—

Mechanism