LOCUS       NM_024164               1165 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tryptase beta 2 (TPSB2), transcript variant 1, mRNA.
ACCESSION   NM_024164
VERSION     NM_024164.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1165)
  AUTHORS   Tsuchiya,M., Fukushima,K., Takata,K., Ohashi,Y., Uchiyama,K.,
            Takahira,N., Saito,H., Tsukada,A., Inoue,G., Takaso,M. and
            Uchida,K.
  TITLE     Increase in TPSB2 and TPSD1 Expression in Synovium of Hip
            Osteoarthritis Patients Who Are Overweight
  JOURNAL   Int J Mol Sci 24 (14), 11532 (2023)
   PUBMED   37511292
  REMARK    GeneRIF: Increase in TPSB2 and TPSD1 Expression in Synovium of Hip
            Osteoarthritis Patients Who Are Overweight.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1165)
  AUTHORS   Le,Q.T., Lyons,J.J., Naranjo,A.N., Olivera,A., Lazarus,R.A.,
            Metcalfe,D.D., Milner,J.D. and Schwartz,L.B.
  TITLE     Impact of naturally forming human alpha/beta-tryptase
            heterotetramers in the pathogenesis of hereditary alpha-tryptasemia
  JOURNAL   J Exp Med 216 (10), 2348-2361 (2019)
   PUBMED   31337736
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 1165)
  AUTHORS   Barallobre-Barreiro,J., Gupta,S.K., Zoccarato,A.,
            Kitazume-Taneike,R., Fava,M., Yin,X., Werner,T., Hirt,M.N.,
            Zampetaki,A., Viviano,A., Chong,M., Bern,M., Kourliouros,A.,
            Domenech,N., Willeit,P., Shah,A.M., Jahangiri,M., Schaefer,L.,
            Fischer,J.W., Iozzo,R.V., Viner,R., Thum,T., Heineke,J.,
            Kichler,A., Otsu,K. and Mayr,M.
  TITLE     Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin
            Activity in Human Atrial Fibrillation
  JOURNAL   Circulation 134 (11), 817-832 (2016)
   PUBMED   27559042
REFERENCE   4  (bases 1 to 1165)
  AUTHORS   Cook,K.M., McNeil,H.P. and Hogg,P.J.
  TITLE     Allosteric control of betaII-tryptase by a redox active disulfide
            bond
  JOURNAL   J Biol Chem 288 (48), 34920-34929 (2013)
   PUBMED   24142694
  REMARK    GeneRIF: These observations indicate that betaII-tryptase activity
            is post-translationally regulated by an allosteric disulfide bond.
REFERENCE   5  (bases 1 to 1165)
  AUTHORS   Zhang,Z.D., Frankish,A., Hunt,T., Harrow,J. and Gerstein,M.
  TITLE     Identification and analysis of unitary pseudogenes: historic and
            contemporary gene losses in humans and other primates
  JOURNAL   Genome Biol 11 (3), R26 (2010)
   PUBMED   20210993
REFERENCE   6  (bases 1 to 1165)
  AUTHORS   Guida,M., Riedy,M., Lee,D. and Hall,J.
  TITLE     Characterization of two highly polymorphic human tryptase loci and
            comparison with a newly discovered monkey tryptase ortholog
  JOURNAL   Pharmacogenetics 10 (5), 389-396 (2000)
   PUBMED   10898108
REFERENCE   7  (bases 1 to 1165)
  AUTHORS   Pereira,P.J., Bergner,A., Macedo-Ribeiro,S., Huber,R.,
            Matschiner,G., Fritz,H., Sommerhoff,C.P. and Bode,W.
  TITLE     Human beta-tryptase is a ring-like tetramer with active sites
            facing a central pore
  JOURNAL   Nature 392 (6673), 306-311 (1998)
   PUBMED   9521329
REFERENCE   8  (bases 1 to 1165)
  AUTHORS   Blom,T. and Hellman,L.
  TITLE     Characterization of a tryptase mRNA expressed in the human basophil
            cell line KU812
  JOURNAL   Scand J Immunol 37 (2), 203-208 (1993)
   PUBMED   8434231
REFERENCE   9  (bases 1 to 1165)
  AUTHORS   Miller,J.S., Moxley,G. and Schwartz,L.B.
  TITLE     Cloning and characterization of a second complementary DNA for
            human tryptase
  JOURNAL   J Clin Invest 86 (3), 864-870 (1990)
   PUBMED   2203827
REFERENCE   10 (bases 1 to 1165)
  AUTHORS   Vanderslice,P., Ballinger,S.M., Tam,E.K., Goldstein,S.M.,
            Craik,C.S. and Caughey,G.H.
  TITLE     Human mast cell tryptase: multiple cDNAs and genes reveal a
            multigene serine protease family
  JOURNAL   Proc Natl Acad Sci U S A 87 (10), 3811-3815 (1990)
   PUBMED   2187193
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC120498.2 and AMYH02031223.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_024164.5.
            
            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].
            
            Transcript Variant: This variant (1, coding) represents the
            protein-coding allele encoded by the GRCh38 reference genome.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138524.388092.1, BC028059.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000606293.5/ ENSP00000482743.1
            polymorphic pseudogene :: PMID: 20210993
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AC120498.2         109091-109113       c
            24-84               AC120498.2         108820-108880       c
            85-256              AC120498.2         108495-108666       c
            257-420             AC120498.2         108222-108385       c
            421-522             AMYH02031223.1     39516-39617         c
            523-686             AC120498.2         107828-107991       c
            687-1165            AC120498.2         107264-107742       c
FEATURES             Location/Qualifiers
     source          1..1165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1165
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /note="tryptase beta 2"
                     /db_xref="GeneID:64499"
                     /db_xref="HGNC:HGNC:14120"
                     /db_xref="MIM:191081"
     exon            1..23
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..851
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /EC_number="3.4.21.59"
                     /note="mast cell tryptase beta III; testicular tissue
                     protein Li 163"
                     /codon_start=1
                     /product="tryptase beta-2 preproprotein"
                     /protein_id="NP_077078.5"
                     /db_xref="GeneID:64499"
                     /db_xref="HGNC:HGNC:14120"
                     /db_xref="MIM:191081"
                     /translation="MLNLLLLALPVLASRAYAAPAPGQALQRVGIVGGQEAPRSKWPW
                     QVSLRVRDRYWMHFCGGSLIHPQWVLTAAHCVGPDVKDLAALRVQLREQHLYYQDQLL
                     PVSRIIVHPQFYTAQIGADIALLELEEPVNVSSHVHTVTLPPASETFPPGMPCWVTGW
                     GDVDNDERLPPPFPLKQVKVPIMENHICDAKYHLGAYTGDDVRIVRDDMLCAGNTRRD
                     SCQGDSGGPLVCKVNGTWLQAGVVSWGEGCAQPNRPGIYTRVTYYLDWIHHYVPKKP"
     exon            24..84
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     exon            85..256
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     exon            257..522
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     exon            523..686
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     exon            687..1165
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1146..1151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /note="hexamer: ATTAAA"
     polyA_site      1165
                     /gene="TPSB2"
                     /gene_synonym="TPS2; tryptaseB; tryptaseC"
                     /note="major polyA site"
ORIGIN      
        1 agaaggaaca gggagcggcc aggatgctga atctgctgct gctggcgctg cccgtcctgg
       61 cgagccgcgc ctacgcggcc cctgccccag gccaggccct gcagcgagtg ggcatcgttg
      121 ggggtcagga ggcccccagg agcaagtggc cctggcaggt gagcctgaga gtccgcgacc
      181 gatactggat gcacttctgc gggggctccc tcatccaccc ccagtgggtg ctgaccgcag
      241 cgcactgcgt gggaccggac gtcaaggatc tggccgccct cagggtgcaa ctgcgggagc
      301 agcacctcta ctaccaggac cagctgctgc cggtcagcag gatcatcgtg cacccacagt
      361 tctacaccgc ccagatcgga gcggacatcg ccctgctgga gctggaggag ccggtgaacg
      421 tctccagcca cgtccacacg gtcaccctgc cccctgcctc agagaccttc cccccgggga
      481 tgccgtgctg ggtcactggc tggggcgatg tggacaatga tgagcgcctc ccaccgccat
      541 ttcctctgaa gcaggtgaag gtccccataa tggaaaacca catttgtgac gcaaaatacc
      601 accttggcgc ctacacggga gacgacgtcc gcatcgtccg tgacgacatg ctgtgtgccg
      661 ggaacacccg gagggactca tgccagggcg actccggagg gcccctggtg tgcaaggtga
      721 atggcacctg gctgcaggcg ggcgtggtca gctggggcga gggctgtgcc cagcccaacc
      781 ggcctggcat ctacacccgt gtcacctact acttggactg gatccaccac tatgtcccca
      841 aaaagccgtg agtcaggcct ggggtgtcca cctgggtcac tggagagcca gcccctcctg
      901 ttcaaaacac cactgcttcc tacccaggtg gcgactgccc cccacacctt ccctgccccg
      961 tcctgagtgc cccttcctgt cctaagcccc ctgctctctt ctgagcccct tcccctgtcc
     1021 tgaggaccct tccccatcct gagccccctt ccctgtccta agcctgacgc ctgcaccggg
     1081 ccctccggcc ctcccctgcc caggcagctg gtggtgggcg ctaatcctcc tgagtgctgg
     1141 acctcattaa agtgcatgga aatca
//
