LAT2
Chr 7linker for activation of T cells family member 2
Also known as: HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5
LAT2 encodes a transmembrane adaptor protein that couples high-affinity immunoglobulin receptors (including IgE receptors in mast cells and IgG receptors in myeloid cells) with downstream signaling cascades through recruitment of GRB2. LAT2 is located in the 7q11.23 region commonly deleted in Williams syndrome, a multisystem developmental disorder affecting cardiovascular, neurodevelopmental, and other organ systems. The gene shows low constraint against loss-of-function variants (pLI 0.0002), and inheritance follows an autosomal dominant pattern when considering Williams syndrome deletions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
LAT2 · 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