USP42

Chr 7

ubiquitin specific peptidase 42

NCBI Gene: 84132 ENSG00000106346 UniProt: Q9H9J4

The protein functions as a deubiquitinating enzyme that removes ubiquitin from target proteins and may play an important role during spermatogenesis. Mutations in this gene cause neurodevelopmental disorders, though the specific phenotypes and inheritance patterns are not well-characterized in the current literature. This gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.133), suggesting that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination; regulation of apoptotic process; and regulation of protein stability. Predicted to be located in nucleoplasm. Predicted to be active in cytosol 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)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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