ENY2

Chr 8

ENY2 transcription and export complex 2 subunit

Also known as: DC6, Sus1, e(y)2

NCBI Gene: 56943 ENSG00000120533 UniProt: Q9NPA8

ENY2 encodes a transcription coactivator that functions within both the SAGA histone modification complex and the TREX-2 mRNA export complex, playing essential roles in gene transcription activation and nuclear mRNA export. The gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.44), suggesting mutations would likely cause severe disease, though specific associated disorders have not yet been established in the literature. Given its fundamental role in transcription and mRNA processing, mutations would be expected to cause neurodevelopmental phenotypes affecting multiple organ systems.

ResearchSummary from RefSeq, UniProt

Enables transcription coactivator activity. Involved in poly(A)+ mRNA export from nucleus; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Part of SAGA complex and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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

0.44

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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