LOCUS       NM_021102               1688 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens serine peptidase inhibitor, Kunitz type 2 (SPINT2),
            transcript variant a, mRNA.
ACCESSION   NM_021102 XM_001720755 XM_001720786 XM_001722917
VERSION     NM_021102.4
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 1688)
  AUTHORS   Huang,N., Wang,Q., Bernard,R.B., Chen,C.Y., Hu,J.M., Wang,J.K.,
            Chan,K.S., Johnson,M.D. and Lin,C.Y.
  TITLE     SPINT2 mutations in the Kunitz domain 2 found in SCSD patients
            inactivate HAI-2 as prostasin inhibitor via abnormal protein
            folding and N-glycosylation
  JOURNAL   Hum Mol Genet 33 (9), 752-767 (2024)
   PUBMED   38271183
  REMARK    GeneRIF: SPINT2 mutations in the Kunitz domain 2 found in SCSD
            patients inactivate HAI-2 as prostasin inhibitor via abnormal
            protein folding and N-glycosylation.
REFERENCE   2  (bases 1 to 1688)
  AUTHORS   Bernhard,S.V., Seget-Trzensiok,K., Kuffer,C., Krastev,D.B.,
            Stautmeister,L.M., Theis,M., Keuper,K., Boekenkamp,J.E.,
            Kschischo,M., Buchholz,F. and Storchova,Z.
  TITLE     Loss of USP28 and SPINT2 expression promotes cancer cell survival
            after whole genome doubling
  JOURNAL   Cell Oncol (Dordr) 45 (1), 103-119 (2022)
   PUBMED   34962618
  REMARK    GeneRIF: Loss of USP28 and SPINT2 expression promotes cancer cell
            survival after whole genome doubling.
REFERENCE   3  (bases 1 to 1688)
  AUTHORS   Wu,Q., Yin,G., Luo,J., Zhang,Y., Ai,T., Tian,J., Jin,Y., Lei,J. and
            Liu,S.
  TITLE     Comprehensive Analysis of the Expression and Prognostic Value of
            SPINT1/2 in Breast Carcinoma
  JOURNAL   Front Endocrinol (Lausanne) 12, 665666 (2021)
   PUBMED   34381422
  REMARK    GeneRIF: Comprehensive Analysis of the Expression and Prognostic
            Value of SPINT1/2 in Breast Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1688)
  AUTHORS   Yamauchi,M., Itoh,H., Naganuma,S., Koono,M., Hasui,Y., Osada,Y. and
            Kataoka,H.
  TITLE     Expression of hepatocyte growth factor activator inhibitor type 2
            (HAI-2) in human testis: identification of a distinct transcription
            start site for the HAI-2 gene in testis
  JOURNAL   Biol Chem 383 (12), 1953-1957 (2002)
   PUBMED   12553733
  REMARK    GeneRIF: there is a distinct regulation of hepatocyte growth factor
            activator inhibitor type 2 gene expression in testis and that HAI-2
            may play a role in the process of spermatogenesis
REFERENCE   5  (bases 1 to 1688)
  AUTHORS   Itoh,H., Yamauchi,M., Kataoka,H., Hamasuna,R., Kitamura,N. and
            Koono,M.
  TITLE     Genomic structure and chromosomal localization of the human
            hepatocyte growth factor activator inhibitor type 1 and 2 genes
  JOURNAL   Eur J Biochem 267 (11), 3351-3359 (2000)
   PUBMED   10824123
REFERENCE   6  (bases 1 to 1688)
  AUTHORS   Muller-Pillasch,F., Wallrapp,C., Bartels,K., Varga,G., Friess,H.,
            Buchler,M., Adler,G. and Gress,T.M.
  TITLE     Cloning of a new Kunitz-type protease inhibitor with a putative
            transmembrane domain overexpressed in pancreatic cancer
  JOURNAL   Biochim Biophys Acta 1395 (1), 88-95 (1998)
   PUBMED   9434156
REFERENCE   7  (bases 1 to 1688)
  AUTHORS   Kawaguchi,T., Qin,L., Shimomura,T., Kondo,J., Matsumoto,K.,
            Denda,K. and Kitamura,N.
  TITLE     Purification and cloning of hepatocyte growth factor activator
            inhibitor type 2, a Kunitz-type serine protease inhibitor
  JOURNAL   J Biol Chem 272 (44), 27558-27564 (1997)
   PUBMED   9346890
REFERENCE   8  (bases 1 to 1688)
  AUTHORS   Marlor,C.W., Delaria,K.A., Davis,G., Muller,D.K., Greve,J.M. and
            Tamburini,P.P.
  TITLE     Identification and cloning of human placental bikunin, a novel
            serine protease inhibitor containing two Kunitz domains
  JOURNAL   J Biol Chem 272 (18), 12202-12208 (1997)
   PUBMED   9115294
REFERENCE   9  (bases 1 to 1688)
  AUTHORS   Shimomura,T., Denda,K., Kitamura,A., Kawaguchi,T., Kito,M.,
            Kondo,J., Kagaya,S., Qin,L., Takata,H., Miyazawa,K. and Kitamura,N.
  TITLE     Hepatocyte growth factor activator inhibitor, a novel Kunitz-type
            serine protease inhibitor
  JOURNAL   J Biol Chem 272 (10), 6370-6376 (1997)
   PUBMED   9045658
REFERENCE   10 (bases 1 to 1688)
  AUTHORS   Gress,T.M., Muller-Pillasch,F., Geng,M., Zimmerhackl,F.,
            Zehetner,G., Friess,H., Buchler,M., Adler,G. and Lehrach,H.
  TITLE     A pancreatic cancer-specific expression profile
  JOURNAL   Oncogene 13 (8), 1819-1830 (1996)
   PUBMED   8895530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001668.2, AW275313.1 and
            AC011479.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021102.3.
            
            Summary: This gene encodes a transmembrane protein with two
            extracellular Kunitz domains that inhibits a variety of serine
            proteases. The protein inhibits HGF activator which prevents the
            formation of active hepatocyte growth factor. This gene is a
            putative tumor suppressor, and mutations in this gene result in
            congenital sodium diarrhea. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2009].
            
            Transcript Variant: This variant (a) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: SRR3476690.531412.1,
                                           SRR3476690.1133047.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301244.12/ ENSP00000301244.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1524              BC001668.2         12-1535
            1525-1687           AW275313.1         27-189              c
            1688-1688           AC011479.7         26763-26763         c
FEATURES             Location/Qualifiers
     source          1..1688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..1688
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /note="serine peptidase inhibitor, Kunitz type 2"
                     /db_xref="GeneID:10653"
                     /db_xref="HGNC:HGNC:11247"
                     /db_xref="MIM:605124"
     exon            1..426
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     CDS             321..1079
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /note="isoform a precursor is encoded by transcript
                     variant a; serine protease inhibitor, Kunitz type, 2;
                     hepatocyte growth factor activator inhibitor type 2;
                     kunitz-type protease inhibitor 2; testicular tissue
                     protein Li 183; hepatocyte growth factor activator
                     inhibitor-2; HGF activator inhibitor 2; Kunitz domain
                     containing protein overexpressed in pancreatic cancer"
                     /codon_start=1
                     /product="kunitz-type protease inhibitor 2 isoform a
                     precursor"
                     /protein_id="NP_066925.1"
                     /db_xref="CCDS:CCDS12510.1"
                     /db_xref="GeneID:10653"
                     /db_xref="HGNC:HGNC:11247"
                     /db_xref="MIM:605124"
                     /translation="MAQLCGLRRSRAFLALLGSLLLSGVLAADRERSIHDFCLVSKVV
                     GRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATS
                     RNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNN
                     FIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMV
                     YLIRVARRNQERALRTVWSSGDDKEQLVKNTYVL"
     exon            427..597
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     exon            598..657
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     exon            658..711
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     exon            712..873
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     exon            874..912
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1688
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1494..1499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /note="hexamer: AATAAA"
     polyA_site      1524
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /note="major polyA site"
     regulatory      1668..1673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
                     /note="hexamer: AATAAA"
     polyA_site      1688
                     /gene="SPINT2"
                     /gene_synonym="DIAR3; HAI-2; HAI2; Kop; PB"
ORIGIN      
        1 gccattggct ctggcgacct ccgcgcgttg ggaggtgtag cgcggctctg aacgcgctga
       61 gggccgttga gtgtcgcagg cggcgagggc gcgagtgagg agcagaccca ggcatcgcgc
      121 gccgagaagg ccgggcgtcc ccacactgaa ggtccggaaa ggcgacttcc gggggctttg
      181 gcacctggcg gaccctcccg gagcgtcggc acctgaacgc gaggcgctcc attgcgcgtg
      241 cgcgttgagg ggcttcccgc acctgatcgc gagaccccaa cggctggtgg cgtcgcctgc
      301 gcgtctcggc tgagctggcc atggcgcagc tgtgcgggct gaggcggagc cgggcgtttc
      361 tcgccctgct gggatcgctg ctcctctctg gggtcctggc ggccgaccga gaacgcagca
      421 tccacgactt ctgcctggtg tcgaaggtgg tgggcagatg ccgggcctcc atgcctaggt
      481 ggtggtacaa tgtcactgac ggatcctgcc agctgtttgt gtatgggggc tgtgacggaa
      541 acagcaataa ttacctgacc aaggaggagt gcctcaagaa atgtgccact gtcacagaga
      601 atgccacggg tgacctggcc accagcagga atgcagcgga ttcctctgtc ccaagtgctc
      661 ccagaaggca ggattctgaa gaccactcca gcgatatgtt caactatgaa gaatactgca
      721 ccgccaacgc agtcactggg ccttgccgtg catccttccc acgctggtac tttgacgtgg
      781 agaggaactc ctgcaataac ttcatctatg gaggctgccg gggcaataag aacagctacc
      841 gctctgagga ggcctgcatg ctccgctgct tccgccagca ggagaatcct cccctgcccc
      901 ttggctcaaa ggtggtggtt ctggcggggc tgttcgtgat ggtgttgatc ctcttcctgg
      961 gagcctccat ggtctacctg atccgggtgg cacggaggaa ccaggagcgt gccctgcgca
     1021 ccgtctggag ctccggagat gacaaggagc agctggtgaa gaacacatat gtcctgtgac
     1081 cgccctgtcg ccaagaggac tggggaaggg aggggagact atgtgtgagc tttttttaaa
     1141 tagagggatt gactcggatt tgagtgatca ttagggctga ggtctgtttc tctgggaggt
     1201 aggacggctg cttcctggtc tggcagggat gggtttgctt tggaaatcct ctaggaggct
     1261 cctcctcgca tggcctgcag tctggcagca gccccgagtt gtttcctcgc tgatcgattt
     1321 ctttcctcca ggtagagttt tctttgctta tgttgaattc cattgcctct tttctcatca
     1381 cagaagtgat gttggaatcg tttcttttgt ttgtctgatt tatggttttt ttaagtataa
     1441 acaaaagttt tttattagca ttctgaaaga aggaaagtaa aatgtacaag tttaataaaa
     1501 aggggccttc ccctttagaa taaatttcag catgtgcttt ctttatggga gtcctaattt
     1561 caaccctacc aaaatgatca caagacacta tctgaggtgt cccattctag aaatagaccc
     1621 ctcaaaatag cgtctttcag atctttttga atgaatccac aagatgaaat aaatgtccta
     1681 ttactgag
//
