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... See more...

Aliases for TPSB2 Gene

Aliases for TPSB2 Gene

  • Tryptase Beta 2 2 3 5
  • Tryptase Beta-2 3 4
  • EC 3.4.21.59 4 50
  • TPS2 3 4
  • Tryptase Beta 2 (Gene/Pseudogene) 2
  • Testicular Tissue Protein Li 163 3
  • Mast Cell Tryptase Beta III 3
  • Mast Cell Tryptase Beta II 3
  • Tryptase Beta III 2
  • Tryptase Beta II 2
  • Tryptase II 4
  • Tryptase-2 4
  • TryptaseB 3
  • TryptaseC 3
  • EC 3.4.21 50
  • TPSB2 5

External Ids for TPSB2 Gene

Previous GeneCards Identifiers for TPSB2 Gene

  • GC16U990168
  • GC16P001231
  • GC16P001191
  • GC16P001234
  • GC16M001219
  • GC16M001278
  • GC16M001279
  • GC16M001280
  • GC16M001281

Summaries for TPSB2 Gene

Entrez Gene Summary for TPSB2 Gene

  • 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]

GeneCards Summary for TPSB2 Gene

TPSB2 (Tryptase Beta 2) is a Protein Coding gene. Diseases associated with TPSB2 include Mental Retardation, Autosomal Dominant 22. Among its related pathways are Measles. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TPSAB1.

UniProtKB/Swiss-Prot Summary for TPSB2 Gene

  • Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity.

Gene Wiki entry for TPSB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPSB2 Gene

Genomics for TPSB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPSB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001230 Promoter 0.3 EPDnew 250.7 0.0 -20 0.1 TPSB2 HSALNG0108865 TPSAB1
GH16J001245 Enhancer 0.2 FANTOM5 38.3 -15.5 -15546 0.5 TPSD1 TPSAB1 TPSB2 TPSG1 HSALNG0108866-002 HSALNG0108867
GH16J001168 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.5 +61.2 61191 3.6 EZH2 SAFB SCRT1 RFX1 KLF1 EGR2 ZBTB33 PKNOX1 KLF8 BMI1 TPSB2 NHLRC4 ENSG00000259910 CACNA1H HSALNG0108858-001 HSALNG0108858-002 TPSG1
GH16J001225 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 6.3 +4.1 4074 2.2 ZIC2 HNF4A GLIS1 HNRNPL MAFK TPSG1 HSALNG0108866-001 lnc-TPSB2-6 TPSD1 TPSB2 CACNA1H
GH16J001256 Promoter 0.3 EPDnew 10.3 -26.1 -26067 0.1 ENSG00000260182 TPSD1 TPSB2 UBE2I
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPSB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPSB2

Top Transcription factor binding sites by QIAGEN in the TPSB2 gene promoter:
  • AhR
  • ATF-2
  • HNF-1
  • HNF-1A
  • Pax-5

Genomic Locations for TPSB2 Gene

Latest Assembly
chr16:1,227,272-1,230,184
(GRCh38/hg38)
Size:
2,913 bases
Orientation:
Minus strand

Previous Assembly
chr16:1,278,336-1,280,185
(GRCh37/hg19 by Entrez Gene)
Size:
1,850 bases
Orientation:
Minus strand

chr16:1,277,272-1,280,214
(GRCh37/hg19 by Ensembl)
Size:
2,943 bases
Orientation:
Minus strand

Genomic View for TPSB2 Gene

Genes around TPSB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPSB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPSB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPSB2 Gene

Proteins for TPSB2 Gene

  • Protein details for TPSB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20231-TRYB2_HUMAN
    Recommended name:
    Tryptase beta-2
    Protein Accession:
    P20231
    Secondary Accessions:
    • D2E6S0
    • D2E6S2
    • O95827
    • Q15664
    • Q9UQI6
    • Q9UQI7

    Protein attributes for TPSB2 Gene

    Size:
    275 amino acids
    Molecular mass:
    30515 Da
    Quaternary structure:
    • Homotetramer. The active tetramer is converted to inactive monomers at neutral and acidic pH in the absence of heparin. Low concentrations of inactive monomers become active monomers at pH 6.0 in the presence of heparin. When the concentration of active monomers is higher, they convert to active monomers and then to active tetramers. These monomers are active and functionally distinct from the tetrameric enzyme. In contrast to the hidden active sites in the tetrameric form, the active site of the monomeric form is accessible for macromolecular proteins and inhibitors eg: fibrinogen which is a substrate for the monomeric but not for the tetrameric form. The monomeric form forms a complex with SERPINB6.

    Three dimensional structures from OCA and Proteopedia for TPSB2 Gene

neXtProt entry for TPSB2 Gene

Selected DME Specific Peptides for TPSB2 Gene

P20231:
  • CWVTGWGDVDN
  • DIALLEL
  • VLTAAHC
  • SWGEGCA
  • GDSGGPL
  • LPPASETFP
  • QRVGIVGG
  • PLKQVKVPI
  • EQHLYYQD
  • SGGPLVC
  • FCGGSLI
  • VSRIIVHP
  • DSCQGDSGG
  • CWVTGWG
  • HFCGGSL
  • CQGDSGGP
  • WVLTAAH
  • WPWQVSL

Post-translational modifications for TPSB2 Gene

  • Glycosylation at Asn233
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TRYB2_HUMAN (1862)

Other Protein References for TPSB2 Gene

Domains & Families for TPSB2 Gene

Gene Families for TPSB2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for TPSB2 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for TPSB2 Gene

GenScript: Design optimal peptide antigens:
  • TPSB2 protein (Q6FHB8_HUMAN)
  • TPSB2 protein (Q6NZY1_HUMAN)
  • Tryptase I (Q96RZ6_HUMAN)
  • Mast cell tryptase beta III (Q96RZ7_HUMAN)
  • Tryptase II (TRYB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20231

UniProtKB/Swiss-Prot:

TRYB2_HUMAN :
  • Belongs to the peptidase S1 family. Tryptase subfamily.
Family:
  • Belongs to the peptidase S1 family. Tryptase subfamily.
genes like me logo Genes that share domains with TPSB2: view

Function for TPSB2 Gene

Molecular function for TPSB2 Gene

UniProtKB/Swiss-Prot Function:
Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa, but with more restricted specificity than trypsin.; EC=3.4.21.59;.

Enzyme Numbers (IUBMB) for TPSB2 Gene

Phenotypes From GWAS Catalog for TPSB2 Gene

Gene Ontology (GO) - Molecular Function for TPSB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,NAS 9920877
GO:0005515 protein binding IPI 14670919
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA,TAS 2203827
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TPSB2: view
genes like me logo Genes that share phenotypes with TPSB2: view

Animal Models for TPSB2 Gene

MGI Knock Outs for TPSB2:

Animal Models for research

  • Taconic Biosciences Mouse Models for TPSB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSB2

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TPSB2 Gene

Localization for TPSB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPSB2 Gene

Secreted. Note=Released from the secretory granules upon mast cell activation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPSB2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TPSB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0062023 collagen-containing extracellular matrix HDA 27559042
genes like me logo Genes that share ontologies with TPSB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPSB2 Gene

Pathways & Interactions for TPSB2 Gene

PathCards logo

SuperPathways for TPSB2 Gene

SuperPathway Contained pathways
1 Measles
genes like me logo Genes that share pathways with TPSB2: view

Pathways by source for TPSB2 Gene

1 KEGG pathway for TPSB2 Gene

Gene Ontology (GO) - Biological Process for TPSB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
genes like me logo Genes that share ontologies with TPSB2: view

No data available for SIGNOR curated interactions for TPSB2 Gene

Drugs & Compounds for TPSB2 Gene

(5) Drugs for TPSB2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[4-(3-AMINOMETHYL-PHENYL)-PIPERIDIN-1-YL]-(5-PHENETHYL- PYRIDIN-3-YL)-METHANONE Experimental Pharma Target 0
4-PIPERIDIN-4-YLBUTANAL Experimental Pharma Target 0
Amido Phenyl Pyruvic Acid Experimental Pharma Target 0
JNJ-27390467 Experimental Pharma Target 0
genes like me logo Genes that share compounds with TPSB2: view

Transcripts for TPSB2 Gene

mRNA/cDNA for TPSB2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSB2

Alternative Splicing Database (ASD) splice patterns (SP) for TPSB2 Gene

No ASD Table

Relevant External Links for TPSB2 Gene

GeneLoc Exon Structure for
TPSB2

Expression for TPSB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPSB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPSB2 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.4).

Protein differential expression in normal tissues from HIPED for TPSB2 Gene

This gene is overexpressed in Skin (59.9) and Lung (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TPSB2 Gene



Protein tissue co-expression partners for TPSB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPSB2

SOURCE GeneReport for Unigene cluster for TPSB2 Gene:

Hs.592982

Evidence on tissue expression from TISSUES for TPSB2 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with TPSB2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TPSB2 Gene

Orthologs for TPSB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPSB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TPSB2 29 30
  • 96.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC786948 29
  • 82.68 (n)
TPSB1 30 30
  • 76 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC100049001 29
  • 81.45 (n)
-- 30
  • 75 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tpsb2 29 16 30
  • 77.35 (n)
ManyToMany
Tpsab1 30
  • 65 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Tpsb2 29
  • 75.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 56 (a)
ManyToMany
-- 30
  • 51 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 46 (a)
ManyToMany
-- 30
  • 43 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 39 (a)
ManyToMany
-- 30
  • 33 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG18735 31
  • 39 (a)
CG7432 31
  • 36 (a)
Species where no ortholog for TPSB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TPSB2 Gene

ENSEMBL:
Gene Tree for TPSB2 (if available)
TreeFam:
Gene Tree for TPSB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TPSB2: view image
Alliance of Genome Resources:
Additional Orthologs for TPSB2

Paralogs for TPSB2 Gene

Paralogs for TPSB2 Gene

Pseudogenes.org Pseudogenes for TPSB2 Gene

genes like me logo Genes that share paralogs with TPSB2: view

Variants for TPSB2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TPSB2 Gene

TRYB2_HUMAN-P20231
There are two alleles; beta-II and beta-III. The sequence shown corresponds to allele beta-II, as beta-II is the most common allele. There are two forms of the beta-III allele, a short and a long form. The short form (also named frameshifted form) is carried by 23% and 19% of individuals of European and African ancestry but 0% of Asian subjects. In the human genome reference version GRCh38/p12, the allele beta-III short form is represented.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPSB2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs199887053 Benign: not specified 1,229,573(-) C/G
NM_024164.6(TPSB2):c.226G>C (p.Val76Leu)
MISSENSE
rs201836020 Benign: not specified 1,229,731(-) C/A
NM_024164.6(TPSB2):c.68G>T (p.Gly23Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TPSB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TPSB2 Gene

Variant ID Type Subtype PubMed ID
dgv2691n100 CNV gain 25217958
dgv2692n100 CNV gain 25217958
esv1000058 OTHER inversion 20482838
esv2422427 CNV duplication 17116639
esv2750305 CNV deletion 23290073
esv29040 CNV loss 19812545
esv3892754 CNV loss 25118596
nsv1046885 CNV gain 25217958
nsv1051302 CNV gain 25217958
nsv1708 CNV deletion 18451855
nsv428316 CNV gain+loss 18775914
nsv471066 CNV loss 18288195
nsv571101 CNV gain 21841781
nsv571102 CNV loss 21841781
nsv571105 CNV loss 21841781
nsv571108 CNV loss 21841781
nsv571109 CNV gain 21841781
nsv7274 OTHER inversion 18451855
nsv833117 CNV loss 17160897
nsv952899 CNV deletion 24416366
nsv984247 CNV duplication 23825009

Additional Variant Information for TPSB2 Gene

Human Gene Mutation Database (HGMD)
TPSB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPSB2
Leiden Open Variation Database (LOVD)
TPSB2

SNP Genotyping and Copy Number Assays for research

No data available for Variation tolerance for TPSB2 Gene

Disorders for TPSB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TPSB2 Gene - From: COP

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 22
  • mrd22
- elite association - COSMIC cancer census association via MalaCards
Search TPSB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TPSB2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TPSB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TPSB2 Gene

Publications for TPSB2 Gene

  1. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PMID: 19748655) Trivedi NN … Caughey GH (The Journal of allergy and clinical immunology 2009) 2 3 4 40
  2. Active monomers of human beta-tryptase have expanded substrate specificities. (PMID: 18039527) Fukuoka Y … Schwartz LB (International immunopharmacology 2007) 4 22
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers. (PMID: 14670919) Strik MC … Kummer JA (Blood 2004) 3 4
  5. Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog. (PMID: 10898108) Guida M … Hall J (Pharmacogenetics 2000) 3 22

Products for TPSB2 Gene

Sources for TPSB2 Gene