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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPSB2 Gene

protein-coding   GIFtS: 55
GCID: GC16M001281

tryptase beta 2 (gene/pseudogene)

(Previous name: tryptase beta 2 )
 Explore 3 diseases affiliated with
TPSB2 via our new
 Human Malady Compendium 
Biological research products
for TPSB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tryptase Beta 2 (Gene/Pseudogene)1 2     Tryptase Beta-22
TPS22 3 5     TryptaseB1
EC 3.4.21.593 8     TryptaseC1
Tryptase Beta 21     Tryptase-23
Mast Cell Tryptase Beta II2     Tryptase II3
Mast Cell Tryptase Beta III2     EC 3.4.218

External Ids:    HGNC: 141201   Entrez Gene: 644992   Ensembl: ENSG000001972537   OMIM: 1910815   UniProtKB: P202313   

Export aliases for TPSB2 gene to outside databases

Previous GC identifers: GC16U990168 GC16P001231 GC16P001191 GC16P001234 GC16M001219 GC16M001278 GC16M001279 GC16M001280


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TPSB2:
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)

UniProtKB/Swiss-Prot: TRYB2_HUMAN, P20231
Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled
activation-degranulation response of this cell type. Has an immunoprotective role during bacterial infection. Required
to efficiently combat K.pneumoniae infection (By similarity)

Gene Wiki entry for TPSB2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPSB2 gene promoter:
         AhR   Pax-5   HNF-1   ATF-2   HNF-1A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TPSB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPSB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TPSB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPSB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001281:  view genomic region     (about GC identifiers)

Start:
1,277,272 bp from pter      End:
1,280,214 bp from pter
Size:
2,943 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TRYB2_HUMAN, P20231 (See protein sequence)
Recommended Name: Tryptase beta-2 precursor  
Size: 275 amino acids; 30515 Da
Subunit: 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
Subcellular location: Secreted. Note=Released from the secretory granules upon mast cell activation
6/11 PDB 3D structures from and Proteopedia for TPSB2 (see all 11):
1A0L (3D)        1AAO (3D)        2BM2 (3D)        2FPZ (3D)        2FS8 (3D)        2FS9 (3D)    
Secondary accessions: D2E6S0 D2E6S2 O95827 Q15664 Q9UQI6 Q9UQI7

Explore the universe of human proteins at neXtProt for TPSB2: NX_P20231

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20231

  • 4/18 DME Specific Peptides for TPSB2 (P20231) (see all 18)
     DIALLEL  VLTAAHC  WVLTAAH  CWVTGWG 

    TPSB2 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_077078.5  
    ENSEMBL proteins: 
     ENSP00000426256   ENSP00000412409  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS--


    TPSB2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TPSB2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry P20231

    ProtoNet protein and cluster: P20231

    2 Blocks protein families:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: TRYB2_HUMAN, P20231
    Similarity: Belongs to the peptidase S1 family. Tryptase subfamily
    Similarity: Contains 1 peptidase S1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TRYB2_HUMAN, P20231
    Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled
    activation-degranulation response of this cell type. Has an immunoprotective role during bacterial infection. Required
    to efficiently combat K.pneumoniae infection (By similarity)
    Catalytic activity: Preferential cleavage: Arg- -Xaa, Lys- -Xaa, but with more restricted specificity than trypsin

    Enzyme Numbers (IUBMB): EC 3.4.21.591 2 EC 3.4.212

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity NAS9920877
    GO:0008236serine-type peptidase activity TAS2203827


    TPSB2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Tpsb2tm1Dle for TPSB2
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tpsb2):
     cellular  hematopoietic system  immune system  skeleton 

    TPSB2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPSB2

    3 Interacting proteins for TPSB2 (P202313) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163333I2D: score=1 
    PIK3R1P279863I2D: score=1 
    TPSAB1Q156613I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis NAS--


    TPSB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPSB2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TPSB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    APC 366Tryptase inhibitor[178925-65-0]

    2 HMDB Compounds for TPSB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Kinetensin 1-3Ile-Ala-Arg;KT(1-3) ----
    Kinetensin 4-8KT(4-8);Arg-His-Pro-Tyr-Phe 51833-69-3--

    4 DrugBank Compounds for TPSB2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Amido Phenyl Pyruvic Acid-- --target--17139284 17016423
    (5-(aminomethyl)-2H-spiro[benzofuran-3,4'-piperidine]-1'-yl)(5-(phenylethynyl)furan-2-yl)methanone-- --target--10592235
    [4-(3-AMINOMETHYL-PHENYL)-PIPERIDIN-1-YL]-(5-PHENETHYL- PYRIDIN-3-YL)-METHANONE-- --target--10592235
    4-PIPERIDIN-4-YLBUTANAL-- --target----

    1 Novoseek chemical compound relationship for TPSB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 49.8 2 8039831 (1), 18039527 (1)

    Search CenterWatch for drugs/clinical trials and news about TPSB2 / TRYB2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TPSB2 gene: 
    NM_024164.5  

    Unigene Cluster for TPSB2:

    Tryptase beta 2 (gene/pseudogene)
    Hs.592982  [show with all ESTs]
    Unigene Representative Sequence: BC065923
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339687(uc010brk.1) ENST00000445910 ENST00000430512(uc002ckx.3 uc002cky.3)


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    Additional cDNA sequence: 

    AK308208.1 BC029356.1 BC065923.1 FJ931119.1 FJ931120.1 M33492.1 M37488.1 S55551.1 

    3 DOTS entries:

    DT.446428  DT.100749578  DT.75138719 

    24/82 AceView cDNA sequences (see all 82):

    AA887888 AI581938 BV200561 CA867461 BU787858 BQ003361 BQ082929 BV207482 
    BV185679 BV207480 BM663927 BQ719498 BM991728 BV207479 CD672689 BC074974 
    BV201257 BI819421 BV200560 BM989945 AI610847 BF876081 M33493 AI832733 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPSB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for TPSB2

    SOURCE GeneReport for Unigene cluster: Hs.592982
        SABiosciences Custom PCR Arrays for TPSB2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPSB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
      --

    ENSEMBL Gene Tree for TPSB2 (if available)
    TreeFam Gene Tree for TPSB2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TPSB2 gene
    TPSAB1  
    18/107 SIMAP similar genes for TPSB2 using alignment to 4 protein entries:     TRYB2_HUMAN (see all proteins) (see all similar genes):
    tryptaseB    tryptaseC    TPSAB1    TPSD1    MGC52282    F12
    TPSG1    PRSS29P    PRSS22    DKFZp586F0824    PRSS27    PRSS45
    CELA3A    CELA2A    F2    PRSS36    PRSS42    ELA2A

    TPSB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TRYB2_HUMAN, P20231
    Polymorphism: 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


    10/90 NCBI SNPs in TPSB2 are shown (see all 90    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1391958211,2
    --1277991(+) TGGACA/GGAGGG 1 -- ds50010--------
    rs1858040801,2
    --1277999(+) GGGGCA/CGGGAG 1 -- ds50010--------
    rs1432063541,2
    --1278000(+) GGGCCA/GGGAGA 1 -- ds50010--------
    rs559808461,2
    C,,--1278037(+) GGCTCA/GTGATG 1 -- ds50010--------
    rs758414891,2
    C,F,--1278063(+) CCCGGC/TGACCA 1 -- ds50012Minor allele frequency- T:0.25NA 8
    rs10603441,2
    F--1278414(-) CCTCCG/AGCCCT 1 -- ut311Minor allele frequency- A:0.37MN 184
    rs10603411,2
    C,F,--1278424(+) GGCCCA/GGTGCA 1 -- ut3112Minor allele frequency- G:0.48EA NA MN WA CSA 601
    rs1831323051,2
    --1278457(+) AGGGGA/GCTCAG 1 -- ut310--------
    rs115488971,2
    C--1278478(-) TCCTGA/GGGACC 1 -- ut310--------
    rs10603211,2
    --1278604(-) CCCCTC/G/TCTGTC 2 -- ut31 ese32NA MN 186

    HapMap Linkage Disequilibrium report for TPSB2 (1277272 - 1280214 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for TPSB2
         5 CNVs: 72416 29991 4915 5329 29995
         1 Inversion: 37173
    Human Gene Mutation Database (HGMD): TPSB2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TPSB2 for disorders           About GeneDecksing

    OMIM gene information: 191081    OMIM disorders: --

    3 diseases for TPSB2:    About MalaCards
    asthma    mastocytosis    pneumonia

    1 disease from the University of Copenhagen DISEASES database for TPSB2:
    Dermatitis herpetiformis
    Human Genome Epidemiology (HuGE) Navigator: TPSB2 (1 document)

    Export disorders for TPSB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TPSB2 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with TPSB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PubMed id 19748655)1, 2, 3 Trivedi N.N....Caughey G.H. (2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. (PubMed id 9920877)1, 2 Pallaoro M....Caughey G.H. (1999)
    4. The structure of the human betaII-tryptase tetramer: fo(u)r better or worse. (PubMed id 10500112)1, 2 Sommerhoff C.P.... Bergner A. (1999)
    5. Human beta-tryptase is a ring-like tetramer with active sites facing a central pore. (PubMed id 9521329)1, 2 Pereira P.J.B.... Bode W. (1998)
    6. Characterization of a tryptase mRNA expressed in the human basophil cell line KU812. (PubMed id 8434231)1, 2 Blom T. and Hellman L. (1993)
    7. Cloning and characterization of a second complementary DNA for human tryptase. (PubMed id 2203827)1, 2 Miller J.S.... Schwartz L.B. (1990)
    8. Human mast cell tryptase: multiple cDNAs and genes reveal a multigene serine protease family. (PubMed id 2187193)1, 2 Vanderslice P....Caughey G.H. (1990)
    9. Active monomers of human beta-tryptase have expanded substrate specificities. (PubMed id 18039527)2, 9 Fukuoka Y. and Schwartz L.B. (2007)
    10. Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog. (PubMed id 10898108)1, 9 Guida M.... Hall J. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64499 HGNC: 14120 AceView: TPS1.1 Ensembl:ENSG00000197253 euGenes: HUgn64499
    ECgene: TPSB2 H-InvDB: TPSB2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TPSB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPSB2 gene:
    Search GeneIP for patents involving TPSB2

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