TPSB2
Chr 16tryptase beta 2
Also known as: TPS2, tryptaseB, tryptaseC
Tryptase beta-2 is a serine protease that serves as the major neutral protease in mast cells and is secreted during mast cell degranulation, potentially playing a role in innate immunity. This gene is extremely tolerant to loss-of-function variants (LOEUF 1.898), and mutations in TPSB2 are associated with hereditary alpha tryptasemia, an autosomal dominant condition characterized by elevated baseline serum tryptase levels and symptoms including flushing, pruritus, gastrointestinal issues, and allergic-type reactions. The condition typically manifests with systemic symptoms affecting multiple organ systems including skin, gastrointestinal tract, and cardiovascular system.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
TPSB2 · 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