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    C2 complement C2 [ Homo sapiens (human) ]

    Gene ID: 717, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.

    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.
    Steffen BT, Tang W, Lutsey PL, Demmer RT, Selvin E, Matsushita K, Morrison AC, Guan W, Rooney MR, Norby FL, Pankratz N, Couper D, Pankow JS., Free PMC Article

    12/17/2022
    Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein.

    Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein.
    Urban A, Kowalska D, Stasiłojć G, Kuźniewska A, Skrobińska A, Arjona E, Alonso EC, Fenollosa Segarra MÁ, Jongerius I, Spaapen R, Satchell S, Thiel M, Ołdziej S, Rodriguez de Córdoba S, Okrój M., Free PMC Article

    02/12/2022
    Complement protein levels and MBL2 polymorphisms are associated with dengue and disease severity.

    Complement protein levels and MBL2 polymorphisms are associated with dengue and disease severity.
    Giang NT, van Tong H, Quyet D, Hoan NX, Nghia TH, Nam NM, Hung HV, Anh DT, Van Mao C, Son HA, Meyer CG, Velavan TP, Toan NL., Free PMC Article

    12/19/2020
    Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family.

    Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family.
    Dellepiane RM, Baselli LA, Cazzaniga M, Lougaris V, Macor P, Giordano M, Gualtierotti R, Cugno M., Free PMC Article

    11/28/2020
    Logistic regression analyses showed that six C2 single nucleotide polymorphisms had significant associations with the risk of chronic hepatitis B and chronic hepatitis B-related hepatocellular carcinoma among the Korean subjects. Stepwise analysis revealed that causal markers (rs9267665 and rs10947223) were identified among the C2 variants.

    Genetic association of complement component 2 variants with chronic hepatitis B in a Korean population.
    Namgoong S, Shin JG, Cheong HS, Kim LH, Kim JO, Seo JY, Shin HD, Kim YJ.

    07/6/2019
    The pooled ORs for rs551397, rs2274700, rs4151667, rs641153, rs1047286, rs9332739, and rs547154 in the heterozygote model were 0.53, 0.53 , 0.54, 0.48, 1.42, 0.50, and 0.52, respectively. We confirmed the protective role of C2/CFB/CFH polymorphisms in the development of Age-Related Macular Degeneration (AMD), and showed single nucleotide polymorphism in C3 was a high-risk factor for AMD

    Association Between Complement Factor C2/C3/CFB/CFH Polymorphisms and Age-Related Macular Degeneration: A Meta-Analysis.
    Lu F, Liu S, Hao Q, Liu L, Zhang J, Chen X, Hu W, Huang P.

    01/5/2019
    Vag8 binding to human C1-inhibitor (C1-inh) interferes with the binding of C1-inh to C1s, C1r and MASP-2, resulting in the release of active proteases that subsequently cleave C2 and C4 away from the bacterial surface.

    Acquisition of C1 inhibitor by Bordetella pertussis virulence associated gene 8 results in C2 and C4 consumption away from the bacterial surface.
    Hovingh ES, van den Broek B, Kuipers B, Pinelli E, Rooijakkers SHM, Jongerius I., Free PMC Article

    12/16/2017
    Solution Structures of Complement C2 and Its C4 Complexes Propose Pathway-specific Mechanisms for Control and Activation of the Complement Proconvertases.

    Solution Structures of Complement C2 and Its C4 Complexes Propose Pathway-specific Mechanisms for Control and Activation of the Complement Proconvertases.
    Mortensen S, Jensen JK, Andersen GR., Free PMC Article

    05/6/2017
    The rs2844455 A allele of C2 is a risk factor for systemic lupus erythematosus development in a Chinese population, whereas the G allele might be a protective factor.

    Genetic association of complement component 2 polymorphism with systemic lupus erythematosus.
    Chen HH, Tsai LJ, Lee KR, Chen YM, Hung WT, Chen DY.

    04/30/2016
    our data indicate that C2 rs547154 polymorphism plays a protective role in the development of PCV.

    C2 rs547154 polymorphism and polypoidal choroidal vasculopathy susceptibility: a meta-analysis.
    Chen X, Kang X, Zhao K, Zhao C., Free PMC Article

    11/28/2015
    Inhibition of c3 convertase activity by hepatitis C virus as an additional lesion in the regulation of complement components.

    Inhibition of c3 convertase activity by hepatitis C virus as an additional lesion in the regulation of complement components.
    Kim H, Meyer K, Di Bisceglie AM, Ray R., Free PMC Article

    10/17/2015
    The C2 and CFB gene variants were shown to be associated with polypoidal CNV. Typical PCV was not associated with variants in these genes.

    Associations of complement factor B and complement component 2 genotypes with subtypes of polypoidal choroidal vasculopathy.
    Tanaka K, Nakayama T, Mori R, Sato N, Kawamura A, Yuzawa M., Free PMC Article

    01/31/2015
    The rs547154, rs641153, and rs12614 SNPs were not associated with age-related macular degeneration development in Greek patients.

    Complement C3, C2, and factor B gene polymorphisms and age-related macular degeneration in a Greek cohort study.
    Havvas I, Marioli DI, Deli A, Zarkadis IK, Pharmakakis N.

    11/22/2014
    ARMS2 and C3 are major contributors to advanced age-related macular degeneration in Mexican patients, while the contributions of CFH, C2, and CFB are minor to those of other populations.

    CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
    Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, Morales F, Ochoa-Contreras D, Carnevale A, Silva-Zolezzi I., Free PMC Article

    10/4/2014
    These overall results suggest a lack of strong association with the C2 and C7 gene polymorphisms to the susceptibility of systemic lupus erythematosus in the Malaysian population.

    Complement components 2 and 7 (C2 and C7) gene polymorphisms are not major risk factors for SLE susceptibility in the Malaysian population.
    Lian LH, Ching AS, Chong ZY, Chua KH.

    05/18/2013
    Gene variants in CFH and C2/CFB contribute to age related macular degeneration in the Chinese population.

    Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
    Wu L, Tao Q, Chen W, Wang Z, Song Y, Sheng S, Li P, Zhou J., Free PMC Article

    03/9/2013
    Results showed that missense mutations in transmembrane protein 2 p.Ser1254Asn, interferon alpha 2 p.Ala120Thr, its regulator NLR family member X1 p.Arg707Cys, and complement component 2 p.Glu318Asp were associated with chronic hepatitis B.

    Rare inborn errors associated with chronic hepatitis B virus infection.
    Zhao Q, Peng L, Huang W, Li Q, Pei Y, Yuan P, Zheng L, Zhang Y, Deng J, Zhong C, Hu B, Ding H, Fang W, Li R, Liao Q, Lin C, Deng W, Yan H, Hou J, Wu Q, Xu T, Liu J, Hu L, Peng T, Chen S, Lai KN, Yuen MF, Wang Y, Maini MK, Li C, Li M, Wang J, Zhang X, Sham PC, Wang J, Gao ZL, Wang Y.

    01/26/2013
    CFH (RS1061170), C2 (RS547154), OR CFB (RS438999) was not associated with early or late AMD.

    Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study.
    Sundaresan P, Vashist P, Ravindran RD, Shanker A, Nitsch D, Nonyane BA, Smeeth L, Chakravarthy U, Fletcher AE., Free PMC Article

    01/26/2013
    This meta-analysis provides evidence for an association between C2/CFB polymorphisms and age-related macular degeneration.

    The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.
    Thakkinstian A, McEvoy M, Chakravarthy U, Chakrabarti S, McKay GJ, Ryu E, Silvestri G, Kaur I, Francis P, Iwata T, Akahori M, Arning A, Edwards AO, Seddon JM, Attia J., Free PMC Article

    11/3/2012
    In conclusion, the genetic effect of C2, CFB and C3 polymorphisms, which are known to be important for AMD in Caucasian, were not significant in the Korean population.

    Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
    Kim SJ, Lee SJ, Kim NR, Chin HS.

    05/12/2012
    C2/CFB variants play a protective role in the risk of developing neovascular AMD and PCV in the Japanese.

    Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.
    Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Akagi-Kurashige Y, Tsujikawa A, Otani A, Saito M, Iida T, Oishi A, Matsuo K, Tajima K, Matsuda F, Yoshimura N.

    03/31/2012
    Observational study of genetic testing. (HuGE Navigator)

    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ.

    12/5/2010
    These data suggest that patients with C2 deficiency are at increased risk of Streptococcus pyogenes infections.

    Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.
    Yuste J, Sen A, Truedsson L, Jönsson G, Hyams C, Cohen JM, Camberlein E, Sriskandan S, Brown JS.

    11/6/2010
    This study showed that CFH was more likely to be age-related macular(AMD) susceptibility gene, and none of the other C2, CFB, and C3 genes were associated with AMD in a white population.

    Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.
    Liu X, Zhao P, Tang S, Lu F, Hu J, Lei C, Yang X, Lin Y, Ma S, Yang J, Zhang D, Shi Y, Li T, Chen Y, Fan Y, Yang Z.

    10/30/2010
    The polypoidal choroidal vasculopathy (PCV) phenotype in Caucasian patients is associated with the major alleles/genotypes in the age-related macular degeneration (AMD)-associated loci, suggesting that PCV and AMD are genetically similar.

    Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.
    Lima LH, Schubert C, Ferrara DC, Merriam JE, Imamura Y, Freund KB, Spaide RF, Yannuzzi LA, Allikmets R., Free PMC Article

    08/30/2010
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