LY6G5B
Chr 6lymphocyte antigen 6 family member G5B
Also known as: C6orf19, G5b
The LY6G5B protein is a cell surface glycoprotein anchored by glycosylphosphatidylinositol (GPI) that participates in signal transduction and belongs to the leukocyte antigen-6 superfamily within the MHC class III region. This gene is extremely intolerant to loss-of-function mutations (pLI near 1.0), but no established human disease associations have been reported for LY6G5B mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LY6G5B · 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