LOCUS       NM_001378374            3576 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens mannose binding lectin 2 (MBL2), transcript variant 3,
            mRNA.
ACCESSION   NM_001378374 XM_006717861
VERSION     NM_001378374.1
KEYWORDS    RefSeq.
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 3576)
  AUTHORS   Mao,Y., Wei,H., Gong,Y., Peng,L. and Chen,Y.
  TITLE     Association of MBL2 gene polymorphisms and MBL levels with dilated
            cardiomyopathy in a Chinese Han population
  JOURNAL   BMC Med Genomics 17 (1), 11 (2024)
   PUBMED   38167099
  REMARK    GeneRIF: Association of MBL2 gene polymorphisms and MBL levels with
            dilated cardiomyopathy in a Chinese Han population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3576)
  AUTHORS   Sharma,A., Kashyap,S.S., Kajal,N.C., Malhotra,B., Singh,J. and
            Kaur,M.
  TITLE     Association of mannose binding lectin with chronic obstructive
            pulmonary disease susceptibility and its clinical outcomes
  JOURNAL   Mol Biol Rep 50 (10), 8145-8161 (2023)
   PUBMED   37558798
  REMARK    GeneRIF: Association of mannose binding lectin with chronic
            obstructive pulmonary disease susceptibility and its clinical
            outcomes.
REFERENCE   3  (bases 1 to 3576)
  AUTHORS   Yilmaz,D., Soyoz,M., Sahin,A., Cerci-Alkac,B., Karahan-Coven,H.I.,
            Ekemen-Keles,Y., Ustundag,G., Kara-Aksay,A., Yilmaz,N. and Pirim,I.
  TITLE     Association between mannose binding lectin gene polymorphisms and
            clinical severity of COVID-19 in children
  JOURNAL   Mol Biol Rep 50 (7), 5871-5877 (2023)
   PUBMED   37231213
  REMARK    GeneRIF: Association between mannose binding lectin gene
            polymorphisms and clinical severity of COVID-19 in children.
REFERENCE   4  (bases 1 to 3576)
  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   5  (bases 1 to 3576)
  AUTHORS   Queiroz,M.A.F., Santiago,A.M., Brito,W.R.D.S., Pereira,K.A.S., de
            Brito,W.B., Torres,M.K.D.S., Lopes,J.D.C., Dos Santos,E.F., da
            Costa,F.P., de Sarges,K.M.L., Cantanhede,M.H.D., de Brito,M.T.F.M.,
            da Silva,A.L.S., Leite,M.M., Viana,M.N.D.S.A., Rodrigues,F.B.B., da
            Silva,R., Viana,G.M.R., Chaves,T.D.S.S., Verissimo,A.O.L.,
            Carvalho,M.D.S., Henriques,D.F., Dos Santos,C.P., Nunes,J.A.L.,
            Costa,I.B., Amoras,E.D.S.G., Lima,S.S., Cayres-Vallinoto,I.M.V.,
            Brasil-Costa,I., Quaresma,J.A.S., Falcao,L.F.M., Dos Santos,E.J.M.
            and Vallinoto,A.C.R.
  TITLE     Polymorphisms in the MBL2 gene are associated with the plasma
            levels of MBL and the cytokines IL-6 and TNF-alpha in severe
            COVID-19
  JOURNAL   Front Immunol 14, 1151058 (2023)
   PUBMED   37138871
  REMARK    GeneRIF: Polymorphisms in the MBL2 gene are associated with the
            plasma levels of MBL and the cytokines IL-6 and TNF-alpha in severe
            COVID-19.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3576)
  AUTHORS   Garred,P., Thiel,S., Madsen,H.O., Ryder,L.P., Jensenius,J.C. and
            Svejgaard,A.
  TITLE     Gene frequency and partial protein characterization of an allelic
            variant of mannan binding protein associated with low serum
            concentrations
  JOURNAL   Clin Exp Immunol 90 (3), 517-521 (1992)
   PUBMED   1458688
REFERENCE   7  (bases 1 to 3576)
  AUTHORS   Lipscombe,R.J., Sumiya,M., Hill,A.V., Lau,Y.L., Levinsky,R.J.,
            Summerfield,J.A. and Turner,M.W.
  TITLE     High frequencies in African and non-African populations of
            independent mutations in the mannose binding protein gene
  JOURNAL   Hum Mol Genet 1 (9), 709-715 (1992)
   PUBMED   1304173
  REMARK    Erratum:[Hum Mol Genet 1993 Mar;2(3):342]
REFERENCE   8  (bases 1 to 3576)
  AUTHORS   Super,M., Gillies,S.D., Foley,S., Sastry,K., Schweinle,J.E.,
            Silverman,V.J. and Ezekowitz,R.A.
  TITLE     Distinct and overlapping functions of allelic forms of human
            mannose binding protein
  JOURNAL   Nat Genet 2 (1), 50-55 (1992)
   PUBMED   1303250
REFERENCE   9  (bases 1 to 3576)
  AUTHORS   Sumiya,M., Super,M., Tabona,P., Levinsky,R.J., Arai,T., Turner,M.W.
            and Summerfield,J.A.
  TITLE     Molecular basis of opsonic defect in immunodeficient children
  JOURNAL   Lancet 337 (8757), 1569-1570 (1991)
   PUBMED   1675710
REFERENCE   10 (bases 1 to 3576)
  AUTHORS   Schuffenecker,I., Narod,S.A., Ezekowitz,R.A., Sobol,H., Feunteun,J.
            and Lenoir,G.M.
  TITLE     The gene for mannose-binding protein maps to chromosome 10 and is a
            marker for multiple endocrine neoplasia type 2
  JOURNAL   Cytogenet Cell Genet 56 (2), 99-102 (1991)
   PUBMED   1672848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL583855.10 and AL731550.11.
            
            On Feb 10, 2020 this sequence version replaced XM_006717861.4.
            
            Summary: This gene encodes the soluble mannose-binding lectin or
            mannose-binding protein found in serum. The protein encoded belongs
            to the collectin family and is an important element in the innate
            immune system. The protein recognizes and binds to mannose and
            N-acetylglucosamine on many microorganisms, including bacteria,
            yeast, and viruses including influenza virus, HIV and SARS-CoV.
            This binding activates the classical complement pathway.
            Deficiencies of this gene have been associated with susceptibility
            to autoimmune and infectious diseases. [provided by RefSeq, Jun
            2020].
            
            Transcript Variant: Variants 1, 2 and 3 all encode the same
            protein.
            
            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 :: SRR14038195.465811.1,
                                           DRR138515.436383.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                AL583855.10        2388-2435           c
            49-259              AL731550.11        101632-101842       c
            260-376             AL731550.11        100853-100969       c
            377-445             AL731550.11        99430-99498         c
            446-3576            AL731550.11        95563-98693         c
FEATURES             Location/Qualifiers
     source          1..3576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     gene            1..3576
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="mannose binding lectin 2"
                     /db_xref="GeneID:4153"
                     /db_xref="HGNC:HGNC:6922"
                     /db_xref="MIM:154545"
     exon            1..48
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     exon            49..259
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..819
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="mannose-binding lectin (protein C) 2, soluble
                     (opsonic defect); mannose-binding lectin 2, soluble
                     (opsonic defect); mannose-binding protein C;
                     mannan-binding lectin; collectin-1"
                     /codon_start=1
                     /product="mannose-binding protein C precursor"
                     /protein_id="NP_001365303.1"
                     /db_xref="CCDS:CCDS7247.1"
                     /db_xref="GeneID:4153"
                     /db_xref="HGNC:HGNC:6922"
                     /db_xref="MIM:154545"
                     /translation="MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGIN
                     GFPGKDGRDGTKGEKGEPGQGLRGLQGPPGKLGPPGNPGPSGSPGPKGQKGDPGKSPD
                     GDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
                     SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGS
                     DEDCVLLLKNGQWNDVPCSTSHLAVCEFPI"
     exon            260..376
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     exon            377..445
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     exon            446..3576
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3556..3561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="hexamer: AATAAA"
     polyA_site      3576
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="major polyA site"
ORIGIN      
        1 agagggccag cgtccttgtc actgagtccc tgctctgcag aaacaccatt ttctcacacc
       61 aaggtgagga ccatgtccct gtttccatca ctccctctcc ttctcctgag tatggtggca
      121 gcgtcttact cagaaactgt gacctgtgag gatgcccaaa agacctgccc tgcagtgatt
      181 gcctgtagct ctccaggcat caacggcttc ccaggcaaag atgggcgtga tggcaccaag
      241 ggagaaaagg gggaaccagg ccaagggctc agaggcttac agggcccccc tggaaagttg
      301 gggcctccag gaaatccagg gccttctggg tcaccaggac caaagggcca aaaaggagac
      361 cctggaaaaa gtccggatgg tgatagtagc ctggctgcct cagaaagaaa agctctgcaa
      421 acagaaatgg cacgtatcaa aaagtggctc accttctctc tgggcaaaca agttgggaac
      481 aagttcttcc tgaccaatgg tgaaataatg acctttgaaa aagtgaaggc cttgtgtgtc
      541 aagttccagg cctctgtggc cacccccagg aatgctgcag agaatggagc cattcagaat
      601 ctcatcaagg aggaagcctt cctgggcatc actgatgaga agacagaagg gcagtttgtg
      661 gatctgacag gaaatagact gacctacaca aactggaacg agggtgaacc caacaatgct
      721 ggttctgatg aagattgtgt attgctactg aaaaatggcc agtggaatga cgtcccctgc
      781 tccacctccc atctggccgt ctgtgagttc cctatctgaa gggtcatatc actcaggccc
      841 tccttgtctt tttactgcaa cccacaggcc cacagtatgc ttgaaaagat aaattatatc
      901 aatttcctca tatccagtat tgttcctttt gtgggcaatc actaaaaatg atcactaaca
      961 gcaccaacaa agcaataata gtagtagtag tagttagcag cagcagtagt agtcatgcta
     1021 attatataat atttttaata tatactatga ggccctatct tttgcatcct acattaatta
     1081 tctagtttaa ttaatctgta atgctttcga tagtgttaac ttgctgcagt atgaaaataa
     1141 gacggattta tttttccatt tacaacaaac acctgtgctc tgttgagcct tcctttctgt
     1201 ttgggtagag ggctccccta atgacatcac cacagtttaa taccacagct ttttaccaag
     1261 tttcaggtat taagaaaatc tattttgtaa ctttctctat gaactctgtt ttctttctaa
     1321 tgagatatta aaccatgtaa agaacataaa taacaaatct caagcaaaca gcttcacaaa
     1381 ttctcacaca catacatacc tatatactca ctttctagat taagatatgg gacatttttg
     1441 actccctaga agccccgtta taactcctcc tagtactaac tcctaggaaa atactattct
     1501 gacctccatg actgcacagt aatttcgtct gtttataaac attgtatagt tggaatcata
     1561 ttgtgtgtaa tgttgtatgt cttgtttact cagaattaag tctgtgagat tcattcatgt
     1621 catgtgtaca aaagtttcat ccttttcatt gccatgtagg gttcccttat attaatattc
     1681 ctcagttcat ccattctatt gttaataggc acttaagtgg cttccaattt ttggccatga
     1741 ggaagagaac ccacgaacat tcctggactt gtcttttggt ggacatggtg cactaatttc
     1801 actacctatc caggagtgga actggtagag gatgaggaaa gcatgtattc agctttagta
     1861 gatattacca gttttcctaa gtgattgtat gaatttatgc tcctaccggc aatgtgtggc
     1921 agtcctagat gctctatgtg cttgtaaaaa gtcaatgttt tcagttctct tgattttcat
     1981 tattcctgtg gatgtaaagt gatatttccc catggtttta atctgtattt ccccaacatg
     2041 taataaggtt gaacactttt ttatatgctt attgggcact tgggtatctt cttttgtgaa
     2101 gtacccgttc acatttttgt attttgttta aattagttag ccaatatttt tcttactgat
     2161 ttttaagtta tttttacatt ctgaatatgt cctttttaat gtgtattaca aatattttgc
     2221 tagtttttga cttgctccta atgttgaatt ttgatgaaca aaatttccta attttgagaa
     2281 agtcttattt attcatattt tctttcaaaa ttagtgcttt ttgtgtcatg tttaagaaat
     2341 ttttgcccat cccaaaatca taagatattt ttcatgattt tgaaaccatg aagagatttt
     2401 tcatgatttt gaaatcatga agatattttt ccattttttt ctaatagttt tattaataaa
     2461 cattctatct attcctggta gaatagatat ccacttgaga cagcactatg taggaaagac
     2521 catttttcct ccactgaact agggtggtgc atttttgtaa gttaggtaac tgtatgtgtg
     2581 tgtgtctgtt tctgggctgt ctattctagt ctatttgttg atgcttgtgt caaacagtac
     2641 actatcttaa ttattgtaca tttatagttg taactatagt ccagctttgt tcttcttaaa
     2701 gtcaagattt ccatataaat attagaaaca gcttctcaat ttctacaaaa tcctgatgag
     2761 gtttctactg ggaccacatt gagtctatca atcaacttat gcagaactgg caacttacta
     2821 ctgaatctct aatcaatgtt catcatgtat cgcttcatgt aactagaatt tctttaactt
     2881 aattgctatg ttttgacatt tttagtttaa aaaccttgta tatcttgttt tggtggtttt
     2941 agtgatttta ataatatatt ttaaatattt tttcttttct attgttgtac acagaaatac
     3001 agttaagttt tgtgtgtagt cttacgatgt ttagtaaact caataagttt atttcttaaa
     3061 tctagtaatt tgtagattcc tctggatttt gtatatgcat agtcatgtaa gctgaaaata
     3121 tggcaatact tgcttcttcc caattgcttt accttttttc ttaccttatt gcactggtta
     3181 gcaaccccaa tacagagacc accagatcag gtatagactc ctgaaagaca atataatgaa
     3241 gtgctccagt caggcctatc taaactggat tcacagctct gtcacttaat tgctacatga
     3301 tctagagcca gttactttgt gtttcagcca tgtatttgca gctgagagaa aataatcatt
     3361 cttatttcat gaaaattgtg gggatgatga aataagttaa cacctttaaa gtgtgtagta
     3421 aagtatcagg atactatatt ttaggtctta atacacacag ttatgccgct agatacatgc
     3481 tttttaatga gataatgtga tattatacat aacacatatc gatttttaaa aattaaatca
     3541 accttgcttt gatggaataa actccattta gtcaca
//
