ENY2
Chr 8ENY2 transcription and export complex 2 subunit
Also known as: DC6, Sus1, e(y)2
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
57 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 37 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 47 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ENY2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools