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TPSB2 Gene(Protein Coding)

Tryptase Beta 2 (Gene/Pseudogene)

GCID:
GC16M001227
GIFtS:
53
Genes Participants
UDN Logo

Aliases for TPSB2 Gene

Aliases for TPSB2 Gene

  • Tryptase Beta 2 (Gene/Pseudogene) 2 3 5
  • EC 3.4.21.59 4 63
  • TPS2 3 4
  • 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 Beta 2 2
  • Tryptase II 4
  • Tryptase-2 4
  • TryptaseB 3
  • TryptaseC 3
  • EC 3.4.21 63

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 (Gene/Pseudogene)) is a Protein Coding gene. 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPSB2 Gene

Genomics for TPSB2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TPSB2 Gene

Enhancers for TPSB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPSB2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TPSB2 gene promoter:

Genomic Location for TPSB2 Gene

Chromosome:
16
Start:
1,227,272 bp from pter
End:
1,230,184 bp from pter
Size:
2,913 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 Structure • Gene Density

RefSeq DNA sequence for TPSB2 Gene

Proteins for TPSB2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for TPSB2 Gene at MOPED

Protein Expression for TPSB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TPSB2 Gene

P20231:

Post-translational modifications for TPSB2 Gene

  • Glycosylation at Asn 233
  • Modification sites at PhosphoSitePlus

Other Protein References for TPSB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TPSB2 (Tryptase beta-2/TPSB2)

Domains & Families for TPSB2 Gene

Protein Domains for TPSB2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TPSB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20231

UniProtKB/Swiss-Prot:

TRYB2_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Tryptase subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Tryptase subfamily.
genes like me logo Genes that share domains with TPSB2: view

No data available for Gene Families for TPSB2 Gene

Function for TPSB2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for TPSB2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: Arg- -Xaa, Lys- -Xaa, but with more restricted specificity than trypsin.
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.

Enzyme Numbers (IUBMB) for TPSB2 Gene

Phenotypes for TPSB2 Gene

MGI mutant phenotypes for TPSB2:
inferred from 2 alleles
genes like me logo Genes that share phenotypes with TPSB2: view

Animal Models for TPSB2 Gene

MGI Knock Outs for TPSB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TPSB2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for TPSB2 Gene

Pathways & Interactions for TPSB2 Gene

SuperPathways for TPSB2 Gene

PathCards logoMore details on SuperPathways for TPSB2
No Data Available

Interacting Proteins for TPSB2 Gene

Selected Interacting proteins: P20231-TRYB2_HUMAN for TPSB2 Gene via I2D

Gene Ontology (GO) - Biological Process for TPSB2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TPSB2 Gene

Drugs & Compounds for TPSB2 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(5-(aminomethyl)-2H-spiro[benzofuran-3,4'-piperidine]-1'-yl)(5-(phenylethynyl)furan-2-yl)methanone Experimental Pharma Target 0
[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
genes like me logo Genes that share compounds with TPSB2: view

Transcripts for TPSB2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TPSB2 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(82) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TPSB2 Gene

Tryptase beta 2 (gene/pseudogene):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TPSB2 Gene

GeneLoc Exon Structure for
TPSB2
ECgene alternative splicing isoforms for
TPSB2

Expression for TPSB2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for TPSB2 Gene

mRNA expression in normal human tissues for TPSB2 Gene
mRNA expression by BioGPS for TPSB2 GenemRNA expression by GTEx 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



SOURCE GeneReport for Unigene cluster for TPSB2 Gene Hs.592982

genes like me logo Genes that share expression patterns with TPSB2: view

Protein tissue co-expression partners for TPSB2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia LOC786948 35
  • 82.68 (n)
  • 77.56 (a)
TPSB1 36
  • 76 (a)
 ManyToMany
TPSB1 36
  • 76 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia LOC100049001 35
  • 81.45 (n)
  • 75.64 (a)
-- 36
  • 75 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Tpsb2 35
  • 77.35 (n)
  • 78.38 (a)
Tpsb2 16
Tpsab1 36
  • 65 (a)
 ManyToMany
Tpsb2 36
  • 76 (a)
 ManyToMany
chimpanzee
(Pan troglodytes)
 Mammalia TPSB2 35
  • 96.83 (n)
  • 96.58 (a)
TPSB2 36
  • 94 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tpsb2 35
  • 75.77 (n)
  • 75.77 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 56 (a)
 ManyToMany
-- 36
  • 51 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 40 (a)
 ManyToMany
-- 36
  • 46 (a)
 ManyToMany
-- 36
  • 40 (a)
 ManyToMany
-- 36
  • 35 (a)
 ManyToMany
-- 36
  • 43 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 39 (a)
 ManyToMany
-- 36
  • 33 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG18735 37
  • 39 (a)
CG7432 37
  • 36 (a)
Species with no ortholog for TPSB2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TPSB2 Gene

Paralogs for TPSB2 Gene

(100) SIMAP similar genes for TPSB2 Gene using alignment to 4 proteins:

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. Beta-II is the most commun 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 GRCh37/hg19, the allele beta-III short form is represented.

Sequence variations from dbSNP and Humsavar for TPSB2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4315329 -- 1,230,423(+) GCACT(A/G)GAACC upstream-variant-2KB
rs4360940 -- 1,228,599(+) TTTTG(A/G)ACAGG utr-variant-3-prime
rs9708511 -- 1,231,632(+) GACTC(A/C)CCTGG upstream-variant-2KB
rs9708990 -- 1,231,515(+) catgg(A/T)ctcac upstream-variant-2KB
rs61104366 -- 1,231,362(+) CCAGC(C/T)CCAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv471066 CNV Loss 18288195
nsv428316 CNV Gain+Loss 18775914
dgv2504n71 CNV Loss 21882294
dgv2505n71 CNV Loss 21882294
dgv2509n71 CNV Loss 21882294
dgv2514n71 CNV Loss 21882294
dgv2518n71 CNV Loss 21882294
dgv2520n71 CNV Loss 21882294
nsv904937 CNV Gain 21882294
dgv2522n71 CNV Loss 21882294
nsv904948 CNV Gain 21882294
dgv2525n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
nsv904955 CNV Loss 21882294
nsv7274 OTHER Inversion 18451855
nsv904956 CNV Gain 21882294
nsv904957 CNV Loss 21882294
nsv833117 CNV Loss 17160897
esv1000058 OTHER Inversion 20482838
esv29040 CNV Loss 19812545
esv2750305 CNV Deletion 23290073
nsv1708 CNV Loss 18451855

Relevant External Links for TPSB2 Gene

Human Gene Mutation Database (HGMD)
TPSB2

No data available for Variation tolerance for TPSB2 Gene

Disorders for TPSB2 Gene

Relevant External Links for TPSB2

Genetic Association Database (GAD)
TPSB2
Human Genome Epidemiology (HuGE) Navigator
TPSB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPSB2

No disorders were found for TPSB2 Gene.

No data available for MalaCards , 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 N.N. … Caughey G.H. (J. Allergy Clin. Immunol. 2009) 2 3 4 48 67
  2. 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 23
  3. Allosteric control of I^II-tryptase by a redox active disulfide bond. (PMID: 24142694) Cook K.M. … Hogg P.J. (J. Biol. Chem. 2013) 3
  4. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PMID: 20210993) Zhang Z.D. … Gerstein M. (Genome Biol. 2010) 3
  5. Chimerism, point mutation, and truncation dramatically transformed mast cell delta-tryptases during primate evolution. (PMID: 18325577) Trivedi N.N. … Caughey G.H. (J. Allergy Clin. Immunol. 2008) 23

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