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    TPSB2 tryptase beta 2 (gene/pseudogene) [ Homo sapiens (human) ]

    Gene ID: 64499, updated on 21-Dec-2019

    Summary

    Official Symbol
    TPSB2provided by HGNC
    Official Full Name
    tryptase beta 2 (gene/pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:14120
    See related
    Ensembl:ENSG00000197253 MIM:191081
    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]
    Expression
    Biased expression in gall bladder (RPKM 111.5), lung (RPKM 107.8) and 13 other tissues See more
    Orthologs

    Genomic context

    See TPSB2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1228336..1230184, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1278336..1280185, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 H Neighboring gene MS205 minisatellite repeat instability region Neighboring gene tryptase gamma 1 Neighboring gene tryptase alpha/beta 1 Neighboring gene tryptase delta 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC39869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    serine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen-containing extracellular matrix HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    tryptase beta-2
    Names
    mast cell tryptase beta II
    mast cell tryptase beta III
    testicular tissue protein Li 163
    NP_077078.5

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_032951.1 RefSeqGene

      Range
      5001..6849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_077078.5

      Status: REVIEWED

      Source sequence(s)
      AC120498, AMYH02031223
      UniProtKB/Swiss-Prot
      P20231
      UniProtKB/TrEMBL
      A0A140VJT7
      Related
      ENSP00000482743.1, ENST00000606293.5
      Conserved Domains (2) summary
      smart00020
      Location:31267
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:31268
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      1228336..1230184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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