SPATA2

Chr 20

spermatogenesis associated 2

Also known as: PD1, PPP1R145, tamo

NCBI Gene: 9825 ENSG00000158480 UniProt: Q9UM82 OMIM: 607662

SPATA2 encodes a bridging factor that recruits the deubiquitinase CYLD to the LUBAC complex, thereby regulating TNF-induced necroptosis and controlling RIPK1 kinase activity. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29), suggesting mutations would likely cause severe disease, though no specific pediatric neurogenetic disorders have been definitively associated with SPATA2 mutations to date. Given its role in cell death pathways and high constraint metrics, pathogenic variants would be expected to follow an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables signaling receptor complex adaptor activity and ubiquitin-specific protease binding activity. Involved in several processes, including protein deubiquitination; regulation of necroptotic process; and regulation of tumor necrosis factor-mediated signaling pathway. Located in cytoplasm. [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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted