LOCUS       NM_001378373            3561 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens mannose binding lectin 2 (MBL2), transcript variant 2,
            mRNA.
ACCESSION   NM_001378373 XM_011539816
VERSION     NM_001378373.1
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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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 3561)
  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_011539816.3.
            
            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 :: SRR14038193.3842153.1,
                                           SRR14038192.1091379.1 [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
            MANE Ensembl match     :: ENST00000674931.1/ ENSP00000502789.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                AL583855.10        2388-2435           c
            49-244              AL731550.11        101632-101827       c
            245-361             AL731550.11        100853-100969       c
            362-430             AL731550.11        99430-99498         c
            431-3561            AL731550.11        95563-98693         c
FEATURES             Location/Qualifiers
     source          1..3561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     gene            1..3561
                     /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..244
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..804
                     /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_001365302.1"
                     /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            245..361
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     exon            362..430
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     exon            431..3561
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3541..3546
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="hexamer: AATAAA"
     polyA_site      3561
                     /gene="MBL2"
                     /gene_synonym="COLEC1; HSMBPC; MBL; MBL2D; MBP; MBP-C;
                     MBP1; MBPD"
                     /note="major polyA site"
ORIGIN      
        1 agagggccag cgtccttgtc actgagtccc tgctctgcag aaacaccagt gaggaccatg
       61 tccctgtttc catcactccc tctccttctc ctgagtatgg tggcagcgtc ttactcagaa
      121 actgtgacct gtgaggatgc ccaaaagacc tgccctgcag tgattgcctg tagctctcca
      181 ggcatcaacg gcttcccagg caaagatggg cgtgatggca ccaagggaga aaagggggaa
      241 ccaggccaag ggctcagagg cttacagggc ccccctggaa agttggggcc tccaggaaat
      301 ccagggcctt ctgggtcacc aggaccaaag ggccaaaaag gagaccctgg aaaaagtccg
      361 gatggtgata gtagcctggc tgcctcagaa agaaaagctc tgcaaacaga aatggcacgt
      421 atcaaaaagt ggctcacctt ctctctgggc aaacaagttg ggaacaagtt cttcctgacc
      481 aatggtgaaa taatgacctt tgaaaaagtg aaggccttgt gtgtcaagtt ccaggcctct
      541 gtggccaccc ccaggaatgc tgcagagaat ggagccattc agaatctcat caaggaggaa
      601 gccttcctgg gcatcactga tgagaagaca gaagggcagt ttgtggatct gacaggaaat
      661 agactgacct acacaaactg gaacgagggt gaacccaaca atgctggttc tgatgaagat
      721 tgtgtattgc tactgaaaaa tggccagtgg aatgacgtcc cctgctccac ctcccatctg
      781 gccgtctgtg agttccctat ctgaagggtc atatcactca ggccctcctt gtctttttac
      841 tgcaacccac aggcccacag tatgcttgaa aagataaatt atatcaattt cctcatatcc
      901 agtattgttc cttttgtggg caatcactaa aaatgatcac taacagcacc aacaaagcaa
      961 taatagtagt agtagtagtt agcagcagca gtagtagtca tgctaattat ataatatttt
     1021 taatatatac tatgaggccc tatcttttgc atcctacatt aattatctag tttaattaat
     1081 ctgtaatgct ttcgatagtg ttaacttgct gcagtatgaa aataagacgg atttattttt
     1141 ccatttacaa caaacacctg tgctctgttg agccttcctt tctgtttggg tagagggctc
     1201 ccctaatgac atcaccacag tttaatacca cagcttttta ccaagtttca ggtattaaga
     1261 aaatctattt tgtaactttc tctatgaact ctgttttctt tctaatgaga tattaaacca
     1321 tgtaaagaac ataaataaca aatctcaagc aaacagcttc acaaattctc acacacatac
     1381 atacctatat actcactttc tagattaaga tatgggacat ttttgactcc ctagaagccc
     1441 cgttataact cctcctagta ctaactccta ggaaaatact attctgacct ccatgactgc
     1501 acagtaattt cgtctgttta taaacattgt atagttggaa tcatattgtg tgtaatgttg
     1561 tatgtcttgt ttactcagaa ttaagtctgt gagattcatt catgtcatgt gtacaaaagt
     1621 ttcatccttt tcattgccat gtagggttcc cttatattaa tattcctcag ttcatccatt
     1681 ctattgttaa taggcactta agtggcttcc aatttttggc catgaggaag agaacccacg
     1741 aacattcctg gacttgtctt ttggtggaca tggtgcacta atttcactac ctatccagga
     1801 gtggaactgg tagaggatga ggaaagcatg tattcagctt tagtagatat taccagtttt
     1861 cctaagtgat tgtatgaatt tatgctccta ccggcaatgt gtggcagtcc tagatgctct
     1921 atgtgcttgt aaaaagtcaa tgttttcagt tctcttgatt ttcattattc ctgtggatgt
     1981 aaagtgatat ttccccatgg ttttaatctg tatttcccca acatgtaata aggttgaaca
     2041 cttttttata tgcttattgg gcacttgggt atcttctttt gtgaagtacc cgttcacatt
     2101 tttgtatttt gtttaaatta gttagccaat atttttctta ctgattttta agttattttt
     2161 acattctgaa tatgtccttt ttaatgtgta ttacaaatat tttgctagtt tttgacttgc
     2221 tcctaatgtt gaattttgat gaacaaaatt tcctaatttt gagaaagtct tatttattca
     2281 tattttcttt caaaattagt gctttttgtg tcatgtttaa gaaatttttg cccatcccaa
     2341 aatcataaga tatttttcat gattttgaaa ccatgaagag atttttcatg attttgaaat
     2401 catgaagata tttttccatt tttttctaat agttttatta ataaacattc tatctattcc
     2461 tggtagaata gatatccact tgagacagca ctatgtagga aagaccattt ttcctccact
     2521 gaactagggt ggtgcatttt tgtaagttag gtaactgtat gtgtgtgtgt ctgtttctgg
     2581 gctgtctatt ctagtctatt tgttgatgct tgtgtcaaac agtacactat cttaattatt
     2641 gtacatttat agttgtaact atagtccagc tttgttcttc ttaaagtcaa gatttccata
     2701 taaatattag aaacagcttc tcaatttcta caaaatcctg atgaggtttc tactgggacc
     2761 acattgagtc tatcaatcaa cttatgcaga actggcaact tactactgaa tctctaatca
     2821 atgttcatca tgtatcgctt catgtaacta gaatttcttt aacttaattg ctatgttttg
     2881 acatttttag tttaaaaacc ttgtatatct tgttttggtg gttttagtga ttttaataat
     2941 atattttaaa tattttttct tttctattgt tgtacacaga aatacagtta agttttgtgt
     3001 gtagtcttac gatgtttagt aaactcaata agtttatttc ttaaatctag taatttgtag
     3061 attcctctgg attttgtata tgcatagtca tgtaagctga aaatatggca atacttgctt
     3121 cttcccaatt gctttacctt ttttcttacc ttattgcact ggttagcaac cccaatacag
     3181 agaccaccag atcaggtata gactcctgaa agacaatata atgaagtgct ccagtcaggc
     3241 ctatctaaac tggattcaca gctctgtcac ttaattgcta catgatctag agccagttac
     3301 tttgtgtttc agccatgtat ttgcagctga gagaaaataa tcattcttat ttcatgaaaa
     3361 ttgtggggat gatgaaataa gttaacacct ttaaagtgtg tagtaaagta tcaggatact
     3421 atattttagg tcttaataca cacagttatg ccgctagata catgcttttt aatgagataa
     3481 tgtgatatta tacataacac atatcgattt ttaaaaatta aatcaacctt gctttgatgg
     3541 aataaactcc atttagtcac a
//
