LOCUS       NM_006610               2455 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens MBL associated serine protease 2 (MASP2), transcript
            variant 1, mRNA.
ACCESSION   NM_006610
VERSION     NM_006610.4
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 2455)
  AUTHORS   Elhadad,S., Redmond,D., Huang,J., Tan,A. and Laurence,J.
  TITLE     MASP2 inhibition by narsoplimab suppresses endotheliopathies
            characteristic of transplant-associated thrombotic microangiopathy:
            in vitro and ex vivo evidence
  JOURNAL   Clin Exp Immunol 213 (2), 252-264 (2023)
   PUBMED   37191586
  REMARK    GeneRIF: MASP2 inhibition by narsoplimab suppresses
            endotheliopathies characteristic of transplant-associated
            thrombotic microangiopathy: in vitro and ex vivo evidence.
REFERENCE   2  (bases 1 to 2455)
  AUTHORS   Sharma,S., Kumari,B., Ali,A., Patel,P.K., Sharma,A.K., Nair,R.,
            Singh,P.K. and Hajela,K.
  TITLE     Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated
            with susceptibility to COVID-19 infection in the urban population
            of Patna City (India)
  JOURNAL   Mol Genet Genomics 298 (4), 955-963 (2023)
   PUBMED   37204457
  REMARK    GeneRIF: Mannose-binding lectin gene 2 variant DD (rs 5030737) is
            associated with susceptibility to COVID-19 infection in the urban
            population of Patna City (India).
REFERENCE   3  (bases 1 to 2455)
  AUTHORS   Mayilyan,K.R., Krarup,A., Soghoyan,A.F., Jensenius,J.C. and
            Sim,R.B.
  TITLE     l-ficolin-MASP arm of the complement system in schizophrenia
  JOURNAL   Immunobiology 228 (2), 152349 (2023)
   PUBMED   36805857
  REMARK    GeneRIF: l-ficolin-MASP arm of the complement system in
            schizophrenia.
REFERENCE   4  (bases 1 to 2455)
  AUTHORS   Tereshchenko,S.Y., Smolnikova,M.V. and Freidin,M.B.
  TITLE     Ficolin-3 and MASP-2 gene variants in Siberian arctic populations:
            Summarized evidence of selective pressure for the high frequency of
            lectin complement pathway deficiency
  JOURNAL   Scand J Immunol 97 (3), e13249 (2023)
   PUBMED   36574978
  REMARK    GeneRIF: Ficolin-3 and MASP-2 gene variants in Siberian arctic
            populations: Summarized evidence of selective pressure for the high
            frequency of lectin complement pathway deficiency.
REFERENCE   5  (bases 1 to 2455)
  AUTHORS   Zachar,R., Thiel,S., Hansen,S., Henriksen,M.L., Skjoedt,M.O.,
            Skjodt,K., Hamzaei,Z., Madsen,K., Lund,L., Hummler,E.,
            Svenningsen,P. and Jensen,B.L.
  TITLE     Mannan-binding lectin serine protease-2 (MASP-2) in human kidney
            and its relevance for proteolytic activation of the epithelial
            sodium channel
  JOURNAL   Sci Rep 12 (1), 15955 (2022)
   PUBMED   36153401
  REMARK    GeneRIF: Mannan-binding lectin serine protease-2 (MASP-2) in human
            kidney and its relevance for proteolytic activation of the
            epithelial sodium channel.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2455)
  AUTHORS   Beltrame,M.H., Boldt,A.B., Catarino,S.J., Mendes,H.C.,
            Boschmann,S.E., Goeldner,I. and Messias-Reason,I.
  TITLE     MBL-associated serine proteases (MASPs) and infectious diseases
  JOURNAL   Mol Immunol 67 (1), 85-100 (2015)
   PUBMED   25862418
  REMARK    GeneRIF: Polymorphisms in MASP1 and MASP2 genes are associated with
            the susceptibility or protection to infectious diseases. (Review)
            Review article
REFERENCE   7  (bases 1 to 2455)
  AUTHORS   Stover,C.M., Thiel,S., Thelen,M., Lynch,N.J., Vorup-Jensen,T.,
            Jensenius,J.C. and Schwaeble,W.J.
  TITLE     Two constituents of the initiation complex of the mannan-binding
            lectin activation pathway of complement are encoded by a single
            structural gene
  JOURNAL   J Immunol 162 (6), 3481-3490 (1999)
   PUBMED   10092804
REFERENCE   8  (bases 1 to 2455)
  AUTHORS   Vorup-Jensen,T., Jensenius,J.C. and Thiel,S.
  TITLE     MASP-2, the C3 convertase generating protease of the MBLectin
            complement activating pathway
  JOURNAL   Immunobiology 199 (2), 348-357 (1998)
   PUBMED   9777418
  REMARK    Review article
REFERENCE   9  (bases 1 to 2455)
  AUTHORS   Thiel,S., Vorup-Jensen,T., Stover,C.M., Schwaeble,W., Laursen,S.B.,
            Poulsen,K., Willis,A.C., Eggleton,P., Hansen,S., Holmskov,U.,
            Reid,K.B. and Jensenius,J.C.
  TITLE     A second serine protease associated with mannan-binding lectin that
            activates complement
  JOURNAL   Nature 386 (6624), 506-510 (1997)
   PUBMED   9087411
REFERENCE   10 (bases 1 to 2455)
  AUTHORS   Sato,T., Endo,Y., Matsushita,M. and Fujita,T.
  TITLE     Molecular characterization of a novel serine protease involved in
            activation of the complement system by mannose-binding protein
  JOURNAL   Int Immunol 6 (4), 665-669 (1994)
   PUBMED   8018603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290823.1 and Y09926.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006610.3.
            
            Summary: This gene encodes a member of the peptidase S1 family of
            serine proteases. The encoded preproprotein is proteolytically
            processed to generate A and B chains that heterodimerize to form
            the mature protease. This protease cleaves complement components C2
            and C4 in order to generate C3 convertase in the lectin pathway of
            the complement system. The encoded protease also plays a role in
            the coagulation cascade through cleavage of prothrombin to form
            thrombin. Myocardial infarction and acute stroke patients exhibit
            reduced serum concentrations of the encoded protein. Alternative
            splicing results in multiple transcript variants, at least one of
            which encodes an isoform that is proteolytically processed.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) is the longer transcript and
            encodes isoform 1 which activates complement component 4.
            
            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 :: Y09926.1, AK290823.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2142680,
                                           SAMEA2145122 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400897.8/ ENSP00000383690.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               AK290823.1         1-153
            154-925             Y09926.1           138-909
            926-1119            AK290823.1         926-1119
            1120-2455           Y09926.1           1104-2439
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2455
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /note="MBL associated serine protease 2"
                     /db_xref="GeneID:10747"
                     /db_xref="HGNC:HGNC:6902"
                     /db_xref="MIM:605102"
     exon            1..37
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..2093
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /EC_number="3.4.21.104"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; mannan-binding lectin serine protease 1
                     pseudogene 1; mannan binding lectin serine peptidase 2;
                     mannan-binding lectin serine peptidase 1 pseudogene 1;
                     mannan-binding lectin serine protease 2; MBL-associated
                     plasma protein of 19 kD; small MBL-associated protein;
                     mannose-binding protein-associated serine protease 2;
                     mannose-binding lectin-associated serine protease 2;
                     mannose-binding lectin associated protein 19"
                     /codon_start=1
                     /product="mannan-binding lectin serine protease 2 isoform
                     1 preproprotein"
                     /protein_id="NP_006601.2"
                     /db_xref="CCDS:CCDS123.1"
                     /db_xref="GeneID:10747"
                     /db_xref="HGNC:HGNC:6902"
                     /db_xref="MIM:605102"
                     /translation="MRLLTLLGLLCGSVATPLGPKWPEPVFGRLASPGFPGEYANDQE
                     RRWTLTAPPGYRLRLYFTHFDLELSHLCEYDFVKLSSGAKVLATLCGQESTDTERAPG
                     KDTFYSLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGEAPTCDHHCHNHL
                     GGFYCSCRAGYVLHRNKRTCSALCSGQVFTQRSGELSSPEYPRPYPKLSSCTYSISLE
                     EGFSVILDFVESFDVETHPETLCPYDFLKIQTDREEHGPFCGKTLPHRIETKSNTVTI
                     TFVTDESGDHTGWKIHYTSTAQPCPYPMAPPNGHVSPVQAKYILKDSFSIFCETGYEL
                     LQGHLPLKSFTAVCQKDGSWDRPMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVI
                     QYSCEETFYTMKVNDGKYVCEADGFWTSSKGEKSLPVCEPVCGLSARTTGGRIYGGQK
                     AKPGDFPWQVLILGGTTAAGALLYDNWVLTAAHAVYEQKHDASALDIRMGTLKRLSPH
                     YTQAWSEAVFIHEGYTHDAGFDNDIALIKLNNKVVINSNITPICLPRKEAESFMRTDD
                     IGTASGWGLTQRGFLARNLMYVDIPIVDHQKCTAAYEKPPYPRGSVTANMLCAGLESG
                     GKDSCRGDSGGALVFLDSETERWFVGGIVSWGSMNCGEAGQYGVYTKVINYIPWIENI
                     ISDF"
     exon            38..266
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            267..444
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            445..576
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            577..773
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            774..921
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1040
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1119
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1254
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1329
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..2455
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2455
                     /gene="MASP2"
                     /gene_synonym="MAP-2; MAP19; MASP-2; MASP1P1; sMAP"
                     /note="major polyA site"
ORIGIN      
        1 agaccaggcc aggccagctg gacgggcaca ccatgaggct gctgaccctc ctgggccttc
       61 tgtgtggctc ggtggccacc cccttgggcc cgaagtggcc tgaacctgtg ttcgggcgcc
      121 tggcatcccc cggctttcca ggggagtatg ccaatgacca ggagcggcgc tggaccctga
      181 ctgcaccccc cggctaccgc ctgcgcctct acttcaccca cttcgacctg gagctctccc
      241 acctctgcga gtacgacttc gtcaagctga gctcgggggc caaggtgctg gccacgctgt
      301 gcgggcagga gagcacagac acggagcggg cccctggcaa ggacactttc tactcgctgg
      361 gctccagcct ggacattacc ttccgctccg actactccaa cgagaagccg ttcacggggt
      421 tcgaggcctt ctatgcagcc gaggacattg acgagtgcca ggtggccccg ggagaggcgc
      481 ccacctgcga ccaccactgc cacaaccacc tgggcggttt ctactgctcc tgccgcgcag
      541 gctacgtcct gcaccgtaac aagcgcacct gctcagccct gtgctccggc caggtcttca
      601 cccagaggtc tggggagctc agcagccctg aatacccacg gccgtatccc aaactctcca
      661 gttgcactta cagcatcagc ctggaggagg ggttcagtgt cattctggac tttgtggagt
      721 ccttcgatgt ggagacacac cctgaaaccc tgtgtcccta cgactttctc aagattcaaa
      781 cagacagaga agaacatggc ccattctgtg ggaagacatt gccccacagg attgaaacaa
      841 aaagcaacac ggtgaccatc acctttgtca cagatgaatc aggagaccac acaggctgga
      901 agatccacta cacgagcaca gcgcagcctt gcccttatcc gatggcgcca cctaatggcc
      961 acgtttcacc tgtgcaagcc aaatacatcc tgaaagacag cttctccatc ttttgcgaga
     1021 ctggctatga gcttctgcaa ggtcacttgc ccctgaaatc ctttactgca gtttgtcaga
     1081 aagatggatc ttgggaccgg ccaatgcccg cgtgcagcat tgttgactgt ggccctcctg
     1141 atgatctacc cagtggccga gtggagtaca tcacaggtcc tggagtgacc acctacaaag
     1201 ctgtgattca gtacagctgt gaagagacct tctacacaat gaaagtgaat gatggtaaat
     1261 atgtgtgtga ggctgatgga ttctggacga gctccaaagg agaaaaatca ctcccagtct
     1321 gtgagcctgt ttgtggacta tcagcccgca caacaggagg gcgtatatat ggagggcaaa
     1381 aggcaaaacc tggtgatttt ccttggcaag tcctgatatt aggtggaacc acagcagcag
     1441 gtgcactttt atatgacaac tgggtcctaa cagctgctca tgccgtctat gagcaaaaac
     1501 atgatgcatc cgccctggac attcgaatgg gcaccctgaa aagactatca cctcattata
     1561 cacaagcctg gtctgaagct gtttttatac atgaaggtta tactcatgat gctggctttg
     1621 acaatgacat agcactgatt aaattgaata acaaagttgt aatcaatagc aacatcacgc
     1681 ctatttgtct gccaagaaaa gaagctgaat cctttatgag gacagatgac attggaactg
     1741 catctggatg gggattaacc caaaggggtt ttcttgctag aaatctaatg tatgtcgaca
     1801 taccgattgt tgaccatcaa aaatgtactg ctgcatatga aaagccaccc tatccaaggg
     1861 gaagtgtaac tgctaacatg ctttgtgctg gcttagaaag tgggggcaag gacagctgca
     1921 gaggtgacag cggaggggca ctggtgtttc tagatagtga aacagagagg tggtttgtgg
     1981 gaggaatagt gtcctggggt tccatgaatt gtggggaagc aggtcagtat ggagtctaca
     2041 caaaagttat taactatatt ccctggatcg agaacataat tagtgatttt taacttgcgt
     2101 gtctgcagtc aaggattctt catttttaga aatgcctgtg aagaccttgg cagcgacgtg
     2161 gctcgagaag cattcatcat tactgtggac atggcagttg ttgctccacc caaaaaaaca
     2221 gactccaggt gaggctgctg tcatttctcc acttgccagt ttaattccag ccttacccat
     2281 tgactcaagg ggacataaac cacgagagtg acagtcatct ttgcccaccc agtgtaatgt
     2341 cactgctcaa attacatttc attaccttaa aaagccagtc tcttttcata ctggctgttg
     2401 gcatttctgt aaactgcctg tccatgctct ttgtttttaa acttgttctt attga
//
