TPSB2
tryptase beta 2
Summary
Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs557661075 | 16:1,278,615 | T/C | upstream gene variant | — |
| rs377518279 | 16:1,278,762 | G/A | — | likely benign |
| rs781452222 | 16:1,278,812 | G/A | — | likely benign |
| rs190865136 | 16:1,279,268 | G/C | synonymous variant | — |
| rs779125655 | 16:1,279,294 | C/T | — | likely benign |
| rs770859378 | 16:1,279,315 | C/G | — | likely benign |
| rs745321776 | 16:1,279,324 | C/T | — | uncertain significance |
| rs775348745 | 16:1,279,332 | G/A | — | uncertain significance |
| rs1181447783 | 16:1,279,366 | C/T | — | uncertain significance |
| rs769403251 | 16:1,279,430 | C/G | — | conflicting classifications of pathogenicity |
| rs779687992 | 16:1,279,436 | G/A | — | likely benign |
| rs1209683365 | 16:1,279,444 | G/C | — | uncertain significance |
| rs1158021643 | 16:1,279,449 | T/C | — | uncertain significance |
| rs199887053 | 16:1,279,574 | C/G | — | benign |
| rs370837354 | 16:1,279,622 | C/A | — | uncertain significance |
| rs1255031150 | 16:1,279,628 | A/T | — | uncertain significance |
| rs762374324 | 16:1,279,649 | G/A | — | uncertain significance |
| rs1420405720 | 16:1,279,670 | A/G | — | uncertain significance |
| rs201836020 | 16:1,279,732 | C/A | — | benign |
| rs763254328 | 16:1,279,736 | G/T | — | uncertain significance |
| rs371907673 | 16:1,279,816 | G/A | — | — |
| rs1361937516 | 16:1,279,910 | G/A | — | uncertain significance |
| rs933461423 | 16:1,279,912 | C/T | — | uncertain significance |
| rs1173733358 | 16:1,279,915 | G/A | — | likely benign |
| rs745819060 | 16:1,279,922 | C/T | — | uncertain significance |
| rs762514060 | 16:1,279,930 | G/T | — | uncertain significance |
| rs143547788 | 16:1,280,087 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.