OSGEP
Chr 14ARO-sialoglycoprotein endopeptidase
Also known as: GAMOS3, GCPL1, KAE1, OSGEP1, PRSMG1, TCS3
OSGEP encodes a component of the EKC/KEOPS complex that catalyzes threonylcarbamoyl modification of adenosine at position 37 in specific tRNAs, which is essential for proper protein translation. Mutations cause Galloway-Mowat syndrome 3, an autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with developmental delay. The gene shows extreme intolerance to loss-of-function variants (pLI near 1.0), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
100 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 | 2 | 0 | 5 | 0 | 7 |
Likely Pathogenic | 2 | 8 | 0 | 0 | 10 |
VUS | 0 | 29 | 3 | 0 | 32 |
Likely Benign | 0 | 2 | 11 | 7 | 20 |
Benign | 0 | 0 | 23 | 3 | 26 |
Conflicting | — | 4 | |||
| Total | 4 | 39 | 42 | 10 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OSGEP · 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