TPSB2 (Tryptase Beta 2)
A serine protease gene encoding the beta-tryptase II enzyme, a key mediator in allergic inflammation and mast cell biology.
Gene Information Card
| Symbol | TPSB2 |
|---|---|
| Full Name | tryptase beta 2 (gene/pseudogene) |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 64499 ncbi.nlm.nih.gov/gene/64499 |
| Ensembl ID | ENSG00000197253 |
| UniProt ID | P20231 |
| OMIM ID | 191370 |
| HGNC ID | 12019 |
| Aliases | Tryptase-2, TPS2, tryptase beta II, tryptase B |
Description
TPSB2 encodes a member of the tryptase family of serine proteases, specifically the beta-tryptase II enzyme. This protease is stored in mast cell secretory granules and released upon degranulation during allergic and inflammatory responses. It cleaves substrates such as fibrinogen, kininogen, and complement components, and plays a role in airway remodeling, vascular permeability, and immune modulation. The gene is located in a cluster of tryptase genes on chromosome 16p13.3.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mastocytosis | Increased TPSB2 expression leads to elevated serum tryptase levels, a diagnostic marker. | ClinVar, OMIM |
| Anaphylaxis | Massive mast cell degranulation releases beta-tryptase, contributing to systemic vasodilation and bronchoconstriction. | ClinVar, NCBI |
| Asthma | Beta-tryptase promotes airway hyperresponsiveness and remodeling via protease-activated receptor (PAR-2) activation. | NCBI, OMIM |
| Allergic rhinitis | Local mast cell activation increases TPSB2 expression in nasal mucosa. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Stomach | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Spleen | 3.2 | Low |
| Bone marrow | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (mast cell line) | 45.2 | High expression; used as model for mast cell studies |
| KU812 (basophil line) | 12.8 | Moderate expression |
| LAD2 (mast cell line) | 38.7 | High expression |
| HEK293 | 0.1 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346G>A (p.Gly116Arg) | Missense | Rare (0.01% in gnomAD) | Unknown functional effect; may alter substrate specificity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Likely loss of function; no protein produced |
| c.632C>T (p.Thr211Met) | Missense | 0.02% in European populations | Reported in ClinVar as benign |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1Val) abolish translation; no functional enzyme produced.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TPSB2.
Dominant Negative (DN)
Not described for TPSB2; tryptase functions as a tetramer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mast cell degranulation (Reactome: R-HSA-114608)
• Tryptase signaling via PAR-2 (Reactome: R-HSA-114607)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Beta-tryptase II (UniProt P20231) is a 275-amino-acid serine protease synthesized as a preproenzyme. After removal of the signal peptide and activation peptide, the mature enzyme forms an active tetramer stabilized by heparin. It is stored in mast cell granules and released upon IgE-mediated activation. Beta-tryptase cleaves multiple substrates including fibrinogen, kininogen, and complement C3, contributing to inflammation, tissue remodeling, and anaphylaxis. Elevated serum levels are a clinical biomarker for mast cell disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPSB2 Knockout HEK293 Cell Line | EDJ-KQ15900 | Human | 64499 | Details Get a Quote |
| TPSB2 Knockout HeLa Cell Line | EDJ-KQ57060 | Human | 64499 | Details Get a Quote |
| TPSB2 Knockout A-549 Cell Line | EDJ-KQ65573 | Human | 64499 | Details Get a Quote |
| TPSB2 Knockout HCT 116 Cell Line | EDJ-KQ74002 | Human | 64499 | Details Get a Quote |
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