LOCUS       NM_006217               1444 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens serpin family I member 2 (SERPINI2), transcript
            variant 2, mRNA.
ACCESSION   NM_006217
VERSION     NM_006217.6
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 1444)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1444)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1444)
  AUTHORS   Heit,C., Jackson,B.C., McAndrews,M., Wright,M.W., Thompson,D.C.,
            Silverman,G.A., Nebert,D.W. and Vasiliou,V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1444)
  AUTHORS   Hysi,P.G., Simpson,C.L., Fok,Y.K., Gerrelli,D., Webster,A.R.,
            Bhattacharya,S.S., Hammond,C.J., Sham,P.C. and Rahi,J.S.
  TITLE     Common polymorphisms in the SERPINI2 gene are associated with
            refractive error in the 1958 British Birth Cohort
  JOURNAL   Invest Ophthalmol Vis Sci 53 (1), 440-447 (2012)
   PUBMED   22110064
  REMARK    GeneRIF: The findings indicate that SERPINI2 is a promising
            candidate for further investigations of the genetic susceptibility
            to myopia.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1444)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1444)
  AUTHORS   Farfsing,A., Engel,F., Seiffert,M., Hartmann,E., Ott,G.,
            Rosenwald,A., Stilgenbauer,S., Dohner,H., Boutros,M., Lichter,P.
            and Pscherer,A.
  TITLE     Gene knockdown studies revealed CCDC50 as a candidate gene in
            mantle cell lymphoma and chronic lymphocytic leukemia
  JOURNAL   Leukemia 23 (11), 2018-2026 (2009)
   PUBMED   19641524
REFERENCE   7  (bases 1 to 1444)
  AUTHORS   Ragg,H.
  TITLE     The role of serpins in the surveillance of the secretory pathway
  JOURNAL   Cell Mol Life Sci 64 (21), 2763-2770 (2007)
   PUBMED   17668148
  REMARK    Review article
REFERENCE   8  (bases 1 to 1444)
  AUTHORS   Chang,W.S., Chang,N.T., Lin,S.C., Wu,C.W. and Wu,F.Y.
  TITLE     Tissue-specific cancer-related serpin gene cluster at human
            chromosome band 3q26
  JOURNAL   Genes Chromosomes Cancer 29 (3), 240-255 (2000)
   PUBMED   10992299
REFERENCE   9  (bases 1 to 1444)
  AUTHORS   Xiao,G., Liu,Y.E., Gentz,R., Sang,Q.A., Ni,J., Goldberg,I.D. and
            Shi,Y.E.
  TITLE     Suppression of breast cancer growth and metastasis by a serpin
            myoepithelium-derived serine proteinase inhibitor expressed in the
            mammary myoepithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (7), 3700-3705 (1999)
   PUBMED   10097100
REFERENCE   10 (bases 1 to 1444)
  AUTHORS   Ozaki,K., Nagata,M., Suzuki,M., Fujiwara,T., Miyoshi,Y.,
            Ishikawa,O., Ohigashi,H., Imaoka,S., Takahashi,E. and Nakamura,Y.
  TITLE     Isolation and characterization of a novel human pancreas-specific
            gene, pancpin, that is down-regulated in pancreatic cancer cells
  JOURNAL   Genes Chromosomes Cancer 22 (3), 179-185 (1998)
   PUBMED   9624529
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC107311.8.
            
            On Oct 23, 2020 this sequence version replaced NM_006217.5.
            
            Summary: The gene encodes a member of a family of proteins that
            acts as inhibitors of serine proteases. These proteins function in
            the regulation of a variety of physiological processes, including
            coagulation, fibrinolysis, development, malignancy, and
            inflammation. Expression of the encoded protein may be
            downregulated during pancreatic carcinogenesis. Alternative
            splicing results in multiple transcript variants for this gene.
            [provided by RefSeq, Jan 2013].
            
            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 :: AK226025.1, AB006423.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264677.9/ ENSP00000264677.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AC107311.8         3682-3721
            41-297              AC107311.8         5880-6136
            298-528             AC107311.8         10439-10669
            529-723             AC107311.8         12051-12245
            724-916             AC107311.8         12326-12518
            917-1014            AC107311.8         24691-24788
            1015-1101           AC107311.8         28322-28408
            1102-1191           AC107311.8         31243-31332
            1192-1444           AC107311.8         35539-35791
FEATURES             Location/Qualifiers
     source          1..1444
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1444
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /note="serpin family I member 2"
                     /db_xref="GeneID:5276"
                     /db_xref="HGNC:HGNC:8945"
                     /db_xref="MIM:605587"
     exon            1..40
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            41..297
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..1268
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /note="serine (or cysteine) proteinase inhibitor, clade I
                     (pancpin), member 2; serine (or cysteine) proteinase
                     inhibitor, clade I (neuroserpin), member 2; serpin I2;
                     protease inhibitor 14; myoepithelium-derived serine
                     proteinase inhibitor; myoepithelium-derived serine
                     protease inhibitor; peptidase inhibitor 14;
                     pancreas-specific protein TSA2004; serpin peptidase
                     inhibitor, clade I (pancpin), member 2"
                     /codon_start=1
                     /product="serpin I2 precursor"
                     /protein_id="NP_006208.1"
                     /db_xref="CCDS:CCDS3200.1"
                     /db_xref="GeneID:5276"
                     /db_xref="HGNC:HGNC:8945"
                     /db_xref="MIM:605587"
                     /translation="MDTIFLWSLLLLFFGSQASRCSAQKNTEFAVDLYQEVSLSHKDN
                     IIFSPLGITLVLEMVQLGAKGKAQQQIRQTLKQQETSAGEEFFVLKSFFSAISEKKQE
                     FTFNLANALYLQEGFTVKEQYLHGNKEFFQSAIKLVDFQDAKACAEMISTWVERKTDG
                     KIKDMFSGEEFGPLTRLVLVNAIYFKGDWKQKFRKEDTQLINFTKKNGSTVKIPMMKA
                     LLRTKYGYFSESSLNYQVLELSYKGDEFSLIIILPAEGMDIEEVEKLITAQQILKWLS
                     EMQEEEVEISLPRFKVEQKVDFKDVLYSLNITEIFSGGCDLSGITDSSEVYVSQVTQK
                     VFFEINEDGSEAATSTGIHIPVIMSLAQSQFIANHPFLFIMKHNPTESILFMGRVTNP
                     DTQEIKGRDLDSL"
     exon            298..528
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            529..723
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            724..916
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1014
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1101
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1191
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1444
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1288..1293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /note="hexamer: AATAAA"
     polyA_site      1312
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /note="hexamer: AGTAAA"
     polyA_site      1444
                     /gene="SERPINI2"
                     /gene_synonym="MEPI; PANCPIN; PI14; TSA2004"
                     /note="major polyA site"
ORIGIN      
        1 agttgtaaca ttccagtgaa taatcagaag tcagtttggg agaagtcaaa atggacacaa
       61 tcttcttgtg gagtcttcta ttgctgtttt ttggaagtca agcctcaaga tgctcagctc
      121 aaaaaaatac cgaatttgca gtggatcttt atcaagaggt ttccttatct cataaggaca
      181 acattatatt ttcacccctt ggaataactt tggttcttga gatggtacaa ctgggagcca
      241 aaggaaaagc acagcagcag ataagacaaa ctttaaaaca acaggaaacc tcagctgggg
      301 aagaattttt tgtactgaag tcatttttct ctgccatctc agagaaaaaa caagaattta
      361 catttaatct tgccaatgcc ctctaccttc aagaaggatt cactgtgaaa gaacagtatc
      421 tccatggcaa caaggaattt tttcagagtg ctataaaact ggtggatttt caagatgcaa
      481 aggcttgtgc agagatgata agtacctggg tagaaagaaa aacagatgga aaaattaaag
      541 acatgttttc aggggaagaa tttggccctc tgactcggct tgtcctggtg aatgctattt
      601 atttcaaagg agattggaaa cagaaattca gaaaagagga cacacagctg ataaatttta
      661 ctaagaaaaa tggttcaact gtcaaaattc caatgatgaa ggctcttctg agaacaaaat
      721 atggttattt ttctgaatct tccctgaact accaagtttt agaattgtct tacaaaggtg
      781 atgaatttag cttaattatc atacttcctg cagaaggtat ggatatagaa gaagtggaaa
      841 aactaattac tgctcaacaa atcctaaaat ggctctctga gatgcaagaa gaggaagtag
      901 aaataagcct ccctagattt aaagtagaac aaaaagtaga cttcaaagac gttttgtatt
      961 ctttgaacat aaccgagata tttagtggtg gctgcgacct ttctggaata acagattcat
     1021 ctgaagtgta tgtttcccaa gtgacgcaaa aagttttctt tgagataaat gaagatggta
     1081 gtgaagctgc aacatcaact ggcatacaca tccctgtgat catgagtctg gctcaaagcc
     1141 aatttatagc aaatcatcca tttctgttta ttatgaagca taatccaaca gaatcaattc
     1201 tgtttatggg aagagtgaca aatcctgaca cccaggagat aaaaggaaga gatttagatt
     1261 cactgtgaat gaaaagcaca gcctcagaat aaaagatgat ttctcaaaaa tagctgattg
     1321 gcaaaatatc gtcatcttga caatatttgc tctatatctt atgtcttttc tgttttaaac
     1381 tgtgcctgta gtaatagata tctgtcttga tgaataagta aaattaggta tgcatttgtt
     1441 tcca
//
