LY6E
Chr 8lymphocyte antigen 6 family member E
Also known as: RIG-E, RIGE, SCA-2, SCA2, TSA-1
The LY6E protein is a GPI-anchored cell surface protein that regulates T-cell proliferation, differentiation and activation through modulation of T-cell receptor signaling, and also restricts coronavirus entry by interfering with spike protein-mediated membrane fusion. Mutations in LY6E cause autosomal recessive severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation. The gene shows moderate tolerance to loss-of-function variation (LOEUF 1.116), and the condition typically presents in early infancy with recurrent infections and developmental delays.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
105 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 | 0 | 0 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 19 | 9 | 0 | 28 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 1 | 0 | 2 | 3 |
| Total | 0 | 22 | 67 | 2 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LY6E · 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