TPSB2 tryptase beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPSB2provided by HGNC
Official Full Name: tryptase beta 2provided by HGNC
Primary source: HGNC:HGNC:14120
See related: Ensembl:ENSG00000197253 MIM:191081; AllianceGenome:HGNC:14120
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TPS2; tryptaseB; tryptaseC
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]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Biased expression in gall bladder (RPKM 111.5), lung (RPKM 107.8) and 13 other tissues See more
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1228336..1230184, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1243646..1245495, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1278336..1280185, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight.
Title: Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight.
Allosteric effects of alpha-tryptase protomers on neighboring beta-tryptase protomers likely result in the novel substrate repertoire of alpha/beta-tryptase tetramers that in turn cause some of the clinical features of hereditary alpha-tryptasemia and of other disorders involving mast cells.
Title: Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.
These observations indicate that betaII-tryptase activity is post-translationally regulated by an allosteric disulfide bond.
Title: Allosteric control of βII-tryptase by a redox active disulfide bond.
Strong linkage of TPSAB1 and TPSB2 and pairing of deficiency alleles with functional alleles in observed haplotypes protect human subjects from "knockout" genomes and indeed from inheritance of fewer than 2 active alleles.
Title: Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.
The disease severity and plasma tryptase levels were not affected by the number of alpha or beta tryptase alleles in mastocytosis patients.
Title: Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels.
Results indicate a key role for heparin in the activation of human betaI- and beta2-tryptase.
Title: Structural requirements and mechanism for heparin-dependent activation and tetramerization of human betaI- and betaII-tryptase.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78261 (e-PCR)
- UniSTS:14684

RH78935 (e-PCR)
- UniSTS:60270

RH69115 (e-PCR)
- UniSTS:61561

RH80805 (e-PCR)
- UniSTS:89216

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tryptase beta-2

Names: mast cell tryptase beta II; mast cell tryptase beta III; testicular tissue protein Li 163

NP_077078.5

EC 3.4.21.59

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032951.2 RefSeqGene

Range

5000..6848

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024164.6 → NP_077078.5 tryptase beta-2 preproprotein

See identical proteins and their annotated locations for NP_077078.5

Status: REVIEWED

Description

Transcript Variant: This variant (1, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.

Source sequence(s)

AC120498, AMYH02031223

UniProtKB/Swiss-Prot

D2E6S0, D2E6S2, O95827, P20231, Q15664, Q9UQI6, Q9UQI7

UniProtKB/TrEMBL

A0A140VJT7, A0A384MTT9, Q6B051

Related

ENSP00000482743.1, ENST00000606293.5

Conserved Domains (2) summary

smart00020
Location:31 → 267

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:31 → 268

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RNA

NR_178183.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CP068262