TPX2

Chr 20

TPX2 microtubule nucleation factor

Also known as: C20orf1, C20orf2, DIL-2, DIL2, FLS353, GD:C20orf1, HCA519, HCTP4

NCBI Gene: 22974 ENSG00000088325 UniProt: Q9ULW0 OMIM: 605917

TPX2 encodes a spindle assembly factor that is essential for mitotic spindle formation and activates Aurora kinase A during cell division. Biallelic mutations cause severe microcephaly with simplified gyral pattern, and affected individuals typically present with profound developmental delay and seizures in infancy. This gene is highly intolerant to loss-of-function variants (pLI 1.0, LOEUF 0.22), reflecting its critical role in normal brain development.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including importin-alpha family protein binding activity; protein kinase binding activity; and protein serine/threonine kinase activator activity. Involved in activation of protein kinase activity; microtubule cytoskeleton organization; and negative regulation of microtubule depolymerization. Located in intercellular bridge; nucleoplasm; and spindle. Is active in spindle. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

106

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

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Mechanism