TPSB2 - tryptase beta 2 Gene

Also Known as TPS2; tryptaseB; tryptaseC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64499

About TPSB2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,228,336-1,230,184 (from NCBI)

This gene has 3 transcripts (splice variants), 841 orthologues and 3 paralogues. Biased expression in gall bladder (RPKM 111.5), lung (RPKM 107.8) and 13 other tissues.

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]

TPSB2 Products (1)

mRNA Protein Name
NM_024164.6 NP_077078.5 tryptase beta-2 preproprotein
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14670919 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

tryptase beta-2

  • mast cell tryptase beta II

Recombinant TPSB2 Proteins

Cat. No. Product Name Accession Purity
HY-P71125 TPSB2 Protein, Human (HEK293, His) AAH29356.1 (A19-P275) ≥ 95%, as determined by reducing SDS-PAGE.

TPSB2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81386 TPSB2 Antibody (YA1131) IHC-P Human
HY-P81386A TPSB2 Antibody (YA1131)(PBS only) IHC-P Human

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 22
  • MRD22

  • Mental Retardation, Autosomal Dominant 22

  • Autosomal Dominant Non-Syndromic Intellectual Disability 22

  • Distal Monosomy 1q

  • Autosomal Dominant Intellectual Developmental Disorder 22

  • Autosomal Dominant Mental Retardation 22

  • Distal Deletion 1q

  • Monosomy 1qter

  • Telomeric Deletion 1q

  • Mental Retardation, Autosomal Dominant, Type 22

Witkop Syndrome
  • Tooth And Nail Syndrome

  • Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome

  • Tns

  • Ectodermal Dysplasia 3, Witkop Type

  • ECTD3

  • Ectodermal Dysplasia 3, Tooth/Nail Type

  • Tooth-And-Nail Syndrome

  • Dysplasia Of Nails With Hypodontia

  • Nail Dysplasia With Hypodontia

  • Witkop'S Syndrome

  • Hypodontia - Dysplasia Of Nails

  • Hypodontia-Dysplasia Of Nails Syndrome

  • Hypodontia-Nail Dysgenesis Syndrome

  • Hypodontia-Nail Dysgenesis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TPSB2 RGD RGD:3065