TPSB2 - tryptase beta 2 Gene

Homo sapiens

Also known as TPS2; tryptaseB; tryptaseC

Gene ID: 64499 | Gene type: protein coding

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14953	TPSB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TPSB2	RGD	RGD:3065

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