LOCUS       NM_000063               2610 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens complement C2 (C2), transcript variant 1, mRNA.
ACCESSION   NM_000063
VERSION     NM_000063.6
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 2610)
  AUTHORS   Steffen,B.T., Tang,W., Lutsey,P.L., Demmer,R.T., Selvin,E.,
            Matsushita,K., Morrison,A.C., Guan,W., Rooney,M.R., Norby,F.L.,
            Pankratz,N., Couper,D. and Pankow,J.S.
  TITLE     Proteomic analysis of diabetes genetic risk scores identifies
            complement C2 and neuropilin-2 as predictors of type 2 diabetes:
            the Atherosclerosis Risk in Communities (ARIC) Study
  JOURNAL   Diabetologia 66 (1), 105-115 (2023)
   PUBMED   36194249
  REMARK    GeneRIF: Proteomic analysis of diabetes genetic risk scores
            identifies complement C2 and neuropilin-2 as predictors of type 2
            diabetes: the Atherosclerosis Risk in Communities (ARIC) Study.
REFERENCE   2  (bases 1 to 2610)
  AUTHORS   Urban,A., Kowalska,D., Stasilojc,G., Kuzniewska,A., Skrobinska,A.,
            Arjona,E., Alonso,E.C., Fenollosa Segarra,M.A., Jongerius,I.,
            Spaapen,R., Satchell,S., Thiel,M., Oldziej,S., Rodriguez de
            Cordoba,S. and Okroj,M.
  TITLE     Gain-of-Function Mutations R249C and S250C in Complement C2 Protein
            Increase C3 Deposition in the Presence of C-Reactive Protein
  JOURNAL   Front Immunol 12, 724361 (2021)
   PUBMED   34899688
  REMARK    GeneRIF: Gain-of-Function Mutations R249C and S250C in Complement
            C2 Protein Increase C3 Deposition in the Presence of C-Reactive
            Protein.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2610)
  AUTHORS   Giang,N.T., van Tong,H., Quyet,D., Hoan,N.X., Nghia,T.H., Nam,N.M.,
            Hung,H.V., Anh,D.T., Van Mao,C., Son,H.A., Meyer,C.G., Velavan,T.P.
            and Toan,N.L.
  TITLE     Complement protein levels and MBL2 polymorphisms are associated
            with dengue and disease severity
  JOURNAL   Sci Rep 10 (1), 14923 (2020)
   PUBMED   32913345
  REMARK    GeneRIF: Complement protein levels and MBL2 polymorphisms are
            associated with dengue and disease severity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2610)
  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   5  (bases 1 to 2610)
  AUTHORS   Ishii,Y., Zhu,Z.B., Macon,K.J. and Volanakis,J.E.
  TITLE     Structure of the human C2 gene
  JOURNAL   J Immunol 151 (1), 170-174 (1993)
   PUBMED   8326124
REFERENCE   6  (bases 1 to 2610)
  AUTHORS   Horiuchi,T., Macon,K.J., Kidd,V.J. and Volanakis,J.E.
  TITLE     cDNA cloning and expression of human complement component C2
  JOURNAL   J Immunol 142 (6), 2105-2111 (1989)
   PUBMED   2493504
REFERENCE   7  (bases 1 to 2610)
  AUTHORS   Bentley,D.R.
  TITLE     Primary structure of human complement component C2. Homology to two
            unrelated protein families
  JOURNAL   Biochem J 239 (2), 339-345 (1986)
   PUBMED   2949737
REFERENCE   8  (bases 1 to 2610)
  AUTHORS   Fearon,D.T.
  TITLE     Activation of the alternative complement pathway
  JOURNAL   CRC Crit Rev Immunol 1 (1), 1-32 (1979)
   PUBMED   162484
  REMARK    Review article
REFERENCE   9  (bases 1 to 2610)
  AUTHORS   Alper,C.A.
  TITLE     Inherited structural polymorphism in human C2: evidence for genetic
            linkage between C2 and Bf
  JOURNAL   J Exp Med 144 (4), 1111-1115 (1976)
   PUBMED   978135
REFERENCE   10 (bases 1 to 2610)
  AUTHORS   Lutsenko,S.M., Kharchenko,V.G., Bachurin,V.I. and Lomakin,M.M.
  TITLE     [Circulating blood volume and regional hemodynamics in acute
            gastrointestinal hemorrhage]
  JOURNAL   Sov Med (2), 38-41 (1976)
   PUBMED   1084023
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312581.1 and AK222537.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000063.5.
            
            Summary: Component C2 is a serum glycoprotein that functions as
            part of the classical pathway of the complement system. Activated
            C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then
            combines with complement factor 4b to create the C3 or C5
            convertase. Deficiency of C2 has been reported to associated with
            certain autoimmune diseases and SNPs in this gene have been
            associated with altered susceptibility to age-related macular
            degeneration. This gene localizes within the class III region of
            the MHC on the short arm of chromosome 6. Alternative splicing
            results in multiple transcript variants encoding distinct isoforms.
            Additional transcript variants have been described in publications
            but their full-length sequence has not been determined.[provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: X04481.1, BC043484.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299367.10/ ENSP00000299367.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2295              AK312581.1         75-2369
            2296-2610           AK222537.1         2288-2602
FEATURES             Location/Qualifiers
     source          1..2610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2610
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="complement C2"
                     /db_xref="GeneID:717"
                     /db_xref="HGNC:HGNC:1248"
                     /db_xref="MIM:613927"
     exon            1..82
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..2295
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /EC_number="3.4.21.43"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; C3/C5 convertase; complement component C2;
                     complement component 2"
                     /codon_start=1
                     /product="complement C2 isoform 1 preproprotein"
                     /protein_id="NP_000054.2"
                     /db_xref="CCDS:CCDS4728.1"
                     /db_xref="GeneID:717"
                     /db_xref="HGNC:HGNC:1248"
                     /db_xref="MIM:613927"
                     /translation="MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPG
                     SLLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTP
                     RLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGA
                     VRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAP
                     ALGTSFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKES
                     ASLMVDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENG
                     TGTNTYAALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHI
                     REILNINQKRNDYLDIYAIGVGKLDVDWRELNELGSKKDGERHAFILQDTKALHQVFE
                     HMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHC
                     FRDGNDHSLWRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGDDIALLK
                     LAQKVKMSTHARPICLPCTMEANLALRRPQGSTCRDHENELLNKQSVPAHFVALNGSK
                     LNINLKMGVEWTSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPCKGESGGA
                     VFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLR
                     QHLGDVLNFLPL"
     exon            83..292
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            293..478
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            479..652
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            653..751
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            752..885
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1024
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1165
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1255
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1396
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1491
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1603
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1769
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1846
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1847..1938
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2065
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2115
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     exon            2116..2610
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2588..2593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="hexamer: AATAAA"
     polyA_site      2610
                     /gene="C2"
                     /gene_synonym="ARMD14; CO2"
                     /note="major polyA site"
ORIGIN      
        1 ggctctctac ctctcgccgc ccctagggag gacaccatgg gcccactgat ggttcttttt
       61 tgcctgctgt tcctgtaccc aggtctggca gactcggctc cctcctgccc tcagaacgtg
      121 aatatctcgg gtggcacctt caccctcagc catggctggg ctcctgggag ccttctcacc
      181 tactcctgcc cccagggcct gtacccatcc ccagcatcac ggctgtgcaa gagcagcgga
      241 cagtggcaga ccccaggagc cacccggtct ctgtctaagg cggtctgcaa acctgtgcgc
      301 tgtccagccc ctgtctcctt tgagaatggc atttataccc cacggctggg gtcctatccc
      361 gtgggtggca atgtgagctt cgagtgtgag gatggcttca tattgcgggg ctcgcctgtg
      421 cgtcagtgtc gccccaacgg catgtgggat ggagaaacag ctgtgtgtga taatggggct
      481 ggccactgcc ccaacccagg catttcactg ggcgcagtgc ggacaggctt ccgctttggt
      541 catggggaca aggtccgcta tcgctgctcc tcgaatcttg tgctcacggg gtcttcggag
      601 cgggagtgcc agggcaacgg ggtctggagt ggaacggagc ccatctgccg ccaaccctac
      661 tcttatgact tccctgagga cgtggcccct gccctgggca cttccttctc ccacatgctt
      721 ggggccacca atcccaccca gaagacaaag gaaagcctgg gccgtaaaat ccaaatccag
      781 cgctctggtc atctgaacct ctacctgctc ctggactgtt cgcagagtgt gtcggaaaat
      841 gactttctca tcttcaagga gagcgcctcc ctcatggtgg acaggatctt cagctttgag
      901 atcaatgtga gcgttgccat tatcaccttt gcctcagagc ccaaagtcct catgtctgtc
      961 ctgaacgaca actcccggga tatgactgag gtgatcagca gcctggaaaa tgccaactat
     1021 aaagatcatg aaaatggaac tgggactaac acctatgcgg ccttaaacag tgtctatctc
     1081 atgatgaaca accaaatgcg actcctcggc atggaaacga tggcctggca ggaaatccga
     1141 catgccatca tccttctgac agatggaaag tccaatatgg gtggctctcc caagacagct
     1201 gttgaccata tcagagagat cctgaacatc aaccagaaga ggaatgacta tctggacatc
     1261 tatgccatcg gggtgggcaa gctggatgtg gactggagag aactgaatga gctagggtcc
     1321 aagaaggatg gtgagaggca tgccttcatt ctgcaggaca caaaggctct gcaccaggtc
     1381 tttgaacata tgctggatgt ctccaagctc acagacacca tctgcggggt ggggaacatg
     1441 tcagcaaacg cctctgacca ggagaggaca ccctggcatg tcactattaa gcccaagagc
     1501 caagagacct gccggggggc cctcatctcc gaccaatggg tcctgacagc agctcattgc
     1561 ttccgcgatg gcaacgacca ctccctgtgg agggtcaatg tgggagaccc caaatcccag
     1621 tggggcaaag aattccttat tgagaaggcg gtgatctccc cagggtttga tgtctttgcc
     1681 aaaaagaacc agggaatcct ggagttctat ggtgatgaca tagctctgct gaagctggcc
     1741 cagaaagtaa agatgtccac ccatgccagg cccatctgcc ttccctgcac gatggaggcc
     1801 aatctggctc tgcggagacc tcaaggcagc acctgtaggg accatgagaa tgaactgctg
     1861 aacaaacaga gtgttcctgc tcattttgtc gccttgaatg ggagcaaact gaacattaac
     1921 cttaagatgg gagtggagtg gacaagctgt gccgaggttg tctcccaaga aaaaaccatg
     1981 ttccccaact tgacagatgt cagggaggtg gtgacagacc agttcctatg cagtgggacc
     2041 caggaggatg agagtccctg caagggagaa tctgggggag cagttttcct tgagcggaga
     2101 ttcaggtttt ttcaggtggg tctggtgagc tggggtcttt acaacccctg ccttggctct
     2161 gctgacaaaa actcccgcaa aagggcccct cgtagcaagg tcccgccgcc acgagacttt
     2221 cacatcaatc tcttccgcat gcagccctgg ctgaggcagc acctggggga tgtcctgaat
     2281 tttttacccc tctagccatg gccactgagc cctctgctgc cctgccagaa tctgccgccc
     2341 ctccatcttc tacctctgaa tggccaccct tagaccctgt gatccatcct ctctcctagc
     2401 tgagtaaatc cgggtctcta ggatgccaga ggcagcgcac acaagctggg aaatcctcag
     2461 ggctcctacc agcaggactg cctcgctgcc ccacctcccg ctccttggcc tgtccccaga
     2521 ttccttccct ggttgacttg actcatgctt gtttcacttt cacatggaat ttcccagtta
     2581 tgaaattaat aaaaatcaat ggtttccaca
//
