OTUD5
Chr XXLROTU deubiquitinase 5
Also known as: DUBA, MCAND
The protein functions as a deubiquitinase that suppresses type I interferon-dependent innate immune responses by cleaving polyubiquitin chains from essential interferon adaptor proteins, disrupting downstream signaling cascades. Loss-of-function mutations cause X-linked recessive multiple congenital anomalies-neurodevelopmental syndrome. The mechanism involves haploinsufficiency leading to dysregulated innate immune signaling and abnormal neurodevelopment.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OTUD5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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