LRATD2
Chr 8LRAT domain containing 2
Also known as: BCMP101, FAM84B, NSE2
LRATD2 encodes a protein localized to the cytoplasm and plasma membrane, though its specific molecular function remains unclear. The gene shows very high constraint against loss-of-function variants (pLI = 0.0004), suggesting that biallelic mutations would likely cause severe developmental disorders, but no definitive disease associations have been established yet. This represents a candidate gene where pathogenic variants may cause as-yet-uncharacterized pediatric neurological or developmental phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
LRATD2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools