SLC46A2
Chr 9solute carrier family 46 member 2
Also known as: Ly110, TSCOT
The protein functions as a proton-coupled transporter that delivers bacterial muropeptides and cyclic dinucleotides to cytosolic pattern recognition receptors, activating innate immune pathways including NOD1/NOD2 and STING signaling. Biallelic mutations in SLC46A2 cause combined immunodeficiency with susceptibility to mycobacterial infections, presenting in early childhood with recurrent infections and immune dysregulation. The gene shows minimal constraint against loss-of-function variants, suggesting tolerance to haploinsufficiency with disease manifesting under autosomal recessive inheritance.
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 dominant-negative.
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
SLC46A2 · 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