TSPY8

Chr Y

testis specific protein Y-linked 8

NCBI Gene: 728403 ENSG00000229549 UniProt: P0CW00

The protein is predicted to bind chromatin and histones and may be involved in sperm differentiation and proliferation. Based on available data, no clearly established human genetic diseases have been definitively linked to mutations in this gene. The gene is located on the Y chromosome and would follow Y-linked inheritance if pathogenic variants were identified.

ResearchSummary from RefSeq, UniProt

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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

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P/LP missense

1.89

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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