Property Summary

NCBI Gene PubMed Count 110
PubMed Score 88.61
PubTator Score 34339.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
non-small cell lung cancer -1.138 6.5e-13
active Crohn's disease 2.264 1.1e-04
subependymal giant cell astrocytoma 3.120 4.4e-03

Gene RIF (66)

PMID Text
26176736 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.
25732348 our data indicate that C2 rs547154 polymorphism plays a protective role in the development of PCV.
24983375 Inhibition of c3 convertase activity by hepatitis C virus as an additional lesion in the regulation of complement components.
24965207 The C2 and CFB gene variants were shown to be associated with polypoidal CNV. Typical PCV was not associated with variants in these genes.
24519512 The rs547154, rs641153, and rs12614 SNPs were not associated with age-related macular degeneration development in Greek patients.
24453474 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.
23233260 Gene variants in CFH and C2/CFB contribute to age related macular degeneration in the Chinese population.
23060141 CFH (RS1061170), C2 (RS547154), OR CFB (RS438999) was not associated with early or late AMD.
22869612 This meta-analysis provides evidence for an association between C2/CFB polymorphisms and age-related macular degeneration.
22610944 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.
22273503 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.
22232432 C2/CFB variants play a protective role in the risk of developing neovascular AMD and PCV in the Japanese.
21881993 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.
20888482 Observational study of gene-disease association. (HuGE Navigator)
20801516 Observational study of genetic testing. (HuGE Navigator)
20679960 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20523265 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.
20523265 Observational study of gene-disease association. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20417301 These data suggest that patients with C2 deficiency are at increased risk of Streptococcus pyogenes infections.
20406964 Observational study of gene-disease association. (HuGE Navigator)
20385819 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20381870 Observational study of gene-disease association. (HuGE Navigator)
20378180 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.
20205591 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20157618 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19851445 Observational study of gene-disease association. (HuGE Navigator)
19696172 The results of the present study provide an independent validation of the association of rs547154 (C2) and rs641153 (CFB) SNPs with reduced risk of AMD in an Indian cohort.
19696172 Observational study of gene-disease association. (HuGE Navigator)
19661236 Observational study of gene-disease association. (HuGE Navigator)
19556007 Our results do not support any major role of the 4 AMD-associated variants in the risk of developing PCV, but favor a predominant association with the RDBP-SKIV2L variants
19556007 Observational study of gene-disease association. (HuGE Navigator)
19430225 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19399715 Observational study of gene-disease association. (HuGE Navigator)
19344414 Observational study of gene-disease association. (HuGE Navigator)
19336475 Observational study of gene-disease association. (HuGE Navigator)
19259132 Data show that SNPs, and haplotypes risk trends were consistent with those seen in other population studies for CFH, C3, C2, and CFB.
19259132 Observational study of gene-disease association. (HuGE Navigator)
19237749 Upon cleavage by C1s, C2a domains undergo conformational rotation while bound to C4b and the released C2b domains may remain folded together as seen in the intact protein.
19197355 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
19180512 Observational study of gene-disease association. (HuGE Navigator)
19169232 Observational study of gene-disease association. (HuGE Navigator)
19117936 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19015224 Study provides insights into the genetic pathogenesis of AMD, and C2 has been shown as one of the five genes independently involved in progression from intermediate disease to advanced disease in which blindness is frequent.
19015224 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18987644 Observational study of gene-disease association. (HuGE Navigator)
18936151 Observational study of gene-disease association. (HuGE Navigator)
18806297 Because of the high level of linkage disequilibrium within the extended CC2/CFB region, variation within SKIV2L may exert a functional effect in age-related macular degeneration.
18806293 In this study, the association of the IVS10 and R32Q variants in the C2 and BF genes in AMD was replicated. Haplotype analysis indicated association of these variants with AMD in an Australian population.
18806293 Observational study of gene-disease association. (HuGE Navigator)
18541650 These data confirm that the classical pathway is vital for complement-mediated phagocytosis of S. pneumoniae and demonstrate why subjects with a C2 deficiency have a marked increase in susceptibility to S. pneumoniae infections.
18515590 The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV (polypoidal choroidal vasculopathy) in Chinese patients.
18515590 Observational study of gene-disease association. (HuGE Navigator)
18493315 C2/CFB significantly influences AMD susceptibility and although accounting for effects at this locus does not dramatically increase the overall accuracy of the genetic risk model, the improvement over the CFH-LOC387715 model is statistically significant
18493315 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18174230 Observational study of gene-disease association. (HuGE Navigator)
18069935 Observational study of gene-disease association. (HuGE Navigator)
17576744 a weaker, independent protective effect exists for complement component 2 in age related macular degeneration.
16670774 Mannan-binding lectin activates C3 and the alternative complement pathway without involvement of C2
16518403 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12878586 study of the formation of high affinity C5 convertase of the classical pathway of complement
12823772 C2 microheterogeneity and histocompatibility antigens Class I were studied in an Austrian population.

AA Sequence

MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQW      1 - 70
QTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGE     71 - 140
TAVCDNGAGHCPNPGISLGAVRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSY    141 - 210
DFPEDVAPALGTSFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLM    211 - 280
VDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTYAALNSVYLMM    281 - 350
NNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDW    351 - 420
RELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQE    421 - 490
TCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGD    491 - 560
DIALLKLAQKVKMSTHARPICLPCTMEANLALRRPQGSTCRDHENELLNKQSVPAHFVALNGSKLNINLK    561 - 630
MGVEWTSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPCKGESGGAVFLERRFRFFQVGLVSWG    631 - 700
LYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLRQHLGDVLNFLPL                      701 - 752
//

Text Mined References (114)

PMID Year Title
26176736 2015 Genetic association of complement component 2 polymorphism with systemic lupus erythematosus.
25732348 2015 C2 rs547154 polymorphism and polypoidal choroidal vasculopathy susceptibility: a meta-analysis.
24983375 2014 Inhibition of c3 convertase activity by hepatitis C virus as an additional lesion in the regulation of complement components.
24965207 2014 Associations of complement factor B and complement component 2 genotypes with subtypes of polypoidal choroidal vasculopathy.
24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
24519512 Complement C3, C2, and factor B gene polymorphisms and age-related macular degeneration in a Greek cohort study.
24453474 2014 CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23620142 2013 Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23455636 2013 Seven new loci associated with age-related macular degeneration.
23233260 2013 Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
23060141 2012 Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study.
22869612 2012 The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.
22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
22610944 2012 Rare inborn errors associated with chronic hepatitis B virus infection.
22566634 2012 The genetic architecture of economic and political preferences.
22273503 2012 Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
22232432 2012 Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.
21881993 2012 Complement components 2 and 7 (C2 and C7) gene polymorphisms are not major risk factors for SLE susceptibility in the Malaysian population.
21764829 2011 A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.
21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
21105107 2010 Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
20888482 2010 Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20679960 2010 Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20523265 2010 Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20417301 2010 Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
20385819 2010 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
20381870 2010 Progression of geographic atrophy and genotype in age-related macular degeneration.
20378180 2010 Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.
20205591 2010 Host determinants of HIV-1 control in African Americans.
20157618 2010 Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
19696172 2010 The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.
19661236 2009 Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
19556007 2009 Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology.
19430225 2009 Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19399715 2009 [Polymorphisms of complement factor genes and age-related macular degeneration in a German population].
19344414 2009 Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
19336475 2009 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
19302245 2009 Complement classical pathway components are all important in clearance of apoptotic and secondary necrotic cells.
19259132 2009 Multilocus analysis of age-related macular degeneration.
19237749 2009 The structure of C2b, a fragment of complement component C2 produced during C3 convertase formation.
19197355 2009 Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers.
19180512 2009 HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms.
19169232 2009 Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19117936 2009 Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.
19015224 2009 Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss.
18987644 2009 Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families.
18936151 2009 Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies.
18806297 2009 Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.
18806293 2009 Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).
18541650 2008 Impaired opsonization with C3b and phagocytosis of Streptococcus pneumoniae in sera from subjects with defects in the classical complement pathway.
18515590 2008 Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.
18493315 2008 C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.
18174230 2008 Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
18069935 2008 The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE.
17576744 2007 Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.
17482263 2007 Molecular cloning, structural analysis and expression of complement component Bf/C2 genes in the nurse shark, Ginglymostoma cirratum.
17027507 2006 Structure of complement component C2A: implications for convertase formation and substrate binding.
16670774 2006 Mannan-binding lectin activates C3 and the alternative complement pathway without involvement of C2.
16518403 2006 Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15199963 2004 The lectin-complement pathway--its role in innate immunity and evolution.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12878586 2003 Formation of high affinity C5 convertase of the classical pathway of complement.
12823772 2003 C2_4_4 microheterogeneity and HLA Class I.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11222683 2001 Human immunodeficiency virus type 1 induces expression of complement factors in human astrocytes.
10946292 2000 Proteolytic activities of two types of mannose-binding lectin-associated serine protease.
10946278 2000 Two clusters of acidic amino acids near the NH2 terminus of complement component C4 alpha'-chain are important for C2 binding.
10734221 2000 A Schistosoma protein, Sh-TOR, is a novel inhibitor of complement which binds human C2.
10072631 1998 Molecular genetics of the human MHC complement gene cluster.
9670930 1998 A novel type II complement C2 deficiency allele in an African-American family.
9453398 1998 Compartmental localization of complement component transcripts in the normal human kidney.
8621452 1996 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.
8326124 1993 Structure of the human C2 gene.
8299689 1994 Transcriptional regulation of the gene for the second component of human complement: promoter analysis.
8175701 1994 Antibodies against the C2 COOH-terminal region discriminate the active and latent forms of the multicatalytic proteinase complex.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8120386 1994 Alternatively spliced transcripts of the human complement C2 gene.
6922702 1982 The purification and properties of the second component of guinea-pig complement.
6555044 1983 The reaction of iodine and thiol-blocking reagents with human complement components C2 and factor B. Purification and N-terminal amino acid sequence of a peptide from C2a containing a free thiol group.
6199794 1984 Isolation of cDNA clones for human complement component C2.
6149575 1984 Structure and activation of complement components C2 and factor B.
6019133 1967 Formation and functional significance of a molecular complex derived from the second and the fourth component of human complement.
3643061 1987 Cell-specific expression of the human complement protein factor B gene: evidence for the role of two distinct 5'-flanking elements.
3546307 1987 Human complement proteins D, C2, and B. Active site mapping with peptide thioester substrates.
3315100 1987 The molecular genetics and polymorphism of C2 and factor B.
2997031 1985 DNA polymorphism of the C2 locus.
2949737 1986 Primary structure of human complement component C2. Homology to two unrelated protein families.
2582254 1985 The molecular basis for genetic deficiency of the second component of human complement.
2493504 1989 cDNA cloning and expression of human complement component C2.
2091785 1990 Complement components and receptors: deficiencies and disease associations.
1701385 1990 Interferon-mediated transcriptional and post-transcriptional modulation of complement gene expression in human monocytes.
1577763 1992 Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.
1531292 1992 Effect of interferon-gamma on complement gene expression in different cell types.
1350302 1992 A variable number of tandem repeats locus within the human complement C2 gene is associated with a retroposon derived from a human endogenous retrovirus.
1084023 1976 [Circulating blood volume and regional hemodynamics in acute gastrointestinal hemorrhage].
978135 1976 Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.
162484 1979 Activation of the alternative complement pathway.