TSPYL5

Chr 8

TSPY like 5

NCBI Gene: 85453 ENSG00000180543 UniProt: Q86VY4 OMIM: 614721

The protein binds chromatin and histones to regulate cell growth and DNA damage responses, particularly through modulation of the Akt signaling pathway and suppression of p53 protein levels. This highly constrained gene (pLI 0.85, LOEUF 0.45) has not yet been definitively associated with human disease, though its critical role in DNA damage response pathways suggests potential clinical relevance. Further research is needed to establish any disease associations and inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable chromatin binding activity and histone binding activity. Involved in several processes, including cellular response to gamma radiation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and protein homooligomerization. Predicted to be active in chromatin and nucleus. [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

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

—

Mechanism