UFSP2
Chr 4ADARUFM1 specific peptidase 2
Also known as: BHD, C4orf20, DEE106, SEMDDR
The protein is a thiol-dependent isopeptidase that cleaves UFM1 (ubiquitin-fold modifier 1) from conjugated target proteins and processes UFM1 precursors, playing a critical role in cellular protein modification and ribosome recycling. Mutations cause developmental and epileptic encephalopathy, spondyloepimetaphyseal dysplasia, and Beukes hip dysplasia, affecting both neurological development and skeletal systems. The gene shows extreme intolerance to loss-of-function variants (pLI near 1.0) and follows both autosomal dominant and autosomal recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
271 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 3 | 103 | 0 | 107 |
Likely Pathogenic | 1 | 4 | 10 | 0 | 15 |
VUS | 2 | 79 | 22 | 0 | 103 |
Likely Benign | 0 | 7 | 4 | 7 | 18 |
Benign | 0 | 0 | 2 | 4 | 6 |
Conflicting | — | 1 | |||
| Total | 4 | 93 | 141 | 11 | 250 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UFSP2 · 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