LAGE3
Chr XXLRL antigen family member 3
Also known as: CVG5, DXS9879E, DXS9951E, ESO3, GAMOS2, ITBA2, Pcc1
LAGE3 encodes a component of the EKC/KEOPS complex that functions as a dimerization module and is required for threonylcarbamoyl modification of specific tRNAs. Mutations cause Galloway-Mowat syndrome 2, a disorder affecting the kidneys and nervous system with X-linked recessive inheritance. The gene shows relatively low constraint scores, consistent with recessive disease mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
200 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 | 2 | 77 | 0 | 80 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 4 | 48 | 14 | 0 | 66 |
Likely Benign | 0 | 2 | 1 | 16 | 19 |
Benign | 0 | 5 | 4 | 1 | 10 |
Conflicting | — | 5 | |||
| Total | 5 | 57 | 99 | 17 | 183 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LAGE3 · 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