Gene Symbol: CFHR2
Description: complement factor H related 2
Alias: CFHL2, FHR2, HFL3, complement factor H-related protein 2, DDESK59, FHR-2, H factor (complement)-like 3, factor H-related gene 2, h factor-like 3, h factor-like protein 2
Species: human
Products:     CFHR2

Top Publications

  1. Zhang H, Morrison M, Dewan A, Adams S, Andreoli M, Huynh N, et al. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet. 2008;9:51 pubmed publisher
    ..Many variants located in tandem on 1q32-q22 including those in CFH, CFHR4, CFHR2, CFHR5, F13B, ASPM and ZBTB were significantly associated with AMD risk...
  2. Diaz Guillen M, Rodriguez De Cordoba S, Heine Suñer D. A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics. 1999;49:549-52 pubmed
  3. Skerka C, Timmann C, Horstmann R, Zipfel P. Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes. J Immunol. 1992;148:3313-8 pubmed
  4. Goicoechea de Jorge E, Caesar J, Malik T, Patel M, Colledge M, Johnson S, et al. Dimerization of complement factor H-related proteins modulates complement activation in vivo. Proc Natl Acad Sci U S A. 2013;110:4685-90 pubmed publisher
    ..Our data demonstrate that these CFHR proteins function as competitive antagonists of CFH to modulate complement activation in vivo and explain why variation in the CFHRs predisposes to disease. ..
  5. Gourgari E, Ma J, Playford M, Mehta N, Goldman R, Remaley A, et al. Proteomic alterations of HDL in youth with type 1 diabetes and their associations with glycemic control: a case-control study. Cardiovasc Diabetol. 2019;18:43 pubmed publisher
    ..Youth with T1DM had significantly increased amounts of complement factor H related protein 2 (FHR2; adjusted P < 0.05), compared to HC...
  6. Ermini L, Goodship T, Strain L, Weale M, Sacks S, Cordell H, et al. Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS. Mol Immunol. 2012;49:640-8 pubmed publisher
    ..Significant replicable associations with single SNPs in CFHR2, CFHR4 and an intergenic SNP (CR1-CD46) were also found...
  7. Yi C, Zhao F, Qiu H, Wang L, Huang J, Nie X, et al. [Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome]. Zhonghua Er Ke Za Zhi. 2017;55:624-627 pubmed publisher
    ..Analysis of variants of all the exons of 10 complement genes (CFH, MCP, CFI, C3, CFB, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5), including 25 bases from 3' end and 25 bases from 5' end, was performed in the 11 cases ..
  8. Baek J, Lim D, Park K, Chae J, Jang H, Lee J, et al. Quantitative proteomic analysis of aqueous humor from patients with drusen and reticular pseudodrusen in age-related macular degeneration. BMC Ophthalmol. 2018;18:289 pubmed publisher
    ..Among the identified proteins, eight proteins, including APOA1, CFHR2, and CLUS, were previously considered major components or regulators of drusen...
  9. Smit McBride Z, Oltjen S, Radu R, Estep J, Nguyen A, Gong Q, et al. Localization of complement factor H gene expression and protein distribution in the mouse outer retina. Mol Vis. 2015;21:110-23 pubmed
    ..Cfh and Cfhr2 transcripts were detected in the mouse RPE/choroid using qPCR, while Cfhr1, Cfhr3, and Cfhrc (Gm4788) were not ..

More Information


  1. Tortajada A, Yébenes H, Abarrategui Garrido C, Anter J, García Fernández J, Martínez Barricarte R, et al. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J Clin Invest. 2013;123:2434-46 pubmed
    ..The mutation resulted in the duplication of the N-terminal short consensus repeats (SCRs) that are conserved in FHR2 and FHR5...
  2. Cantsilieris S, Nelson B, HUDDLESTON J, Baker C, Harshman L, Penewit K, et al. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A. 2018;115:E4433-E4442 pubmed publisher
    ..periods of gene duplication leading to the emergence of four CFH-related (CFHR) gene paralogs (CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya)...
  3. Chen Q, Manzke M, Hartmann A, Büttner M, Amann K, Pauly D, et al. Complement Factor H-Related 5-Hybrid Proteins Anchor Properdin and Activate Complement at Self-Surfaces. J Am Soc Nephrol. 2016;27:1413-25 pubmed publisher
    ..These properdin-binding segments are duplicated in two mutant CFHR5 proteins, CFHR2-CFHR5Hyb from German patients with C3G and CFHR5Dup from Cypriot patients with C3G...
  4. Qi P, Wu B, Guo B, Zhang C, Xu K. The complement factor H (CFH) and its related protein 2 (CFHR2) mediating immune response in large yellow croaker Larimichthys crocea. Dev Comp Immunol. 2018;84:241-249 pubmed publisher
    ..Here, we identified the complement factor H (CFH) and its related gene 2 (CFHR2) homologs from large yellow croaker (Larimichthys crocea), named LcCfh and LcCfhr2, respectively...
  5. Rudnick R, Chen Q, Stea E, Hartmann A, Papac Milicevic N, Person F, et al. FHR5 Binds to Laminins, Uses Separate C3b and Surface-Binding Sites, and Activates Complement on Malondialdehyde-Acetaldehyde Surfaces. J Immunol. 2018;200:2280-2290 pubmed publisher
    ..The C3 glomerulopathy-associated FHR21-2-FHR5 hybrid protein is more potent in MAA epitope binding and activation compared with wild-type FHR5...
  6. Eberhardt H, Buhlmann D, Hortschansky P, Chen Q, Böhm S, Kemper M, et al. Human factor H-related protein 2 (CFHR2) regulates complement activation. PLoS ONE. 2013;8:e78617 pubmed publisher
    ..Resulting mutant CFHR proteins can affect complement regulation. Here we identify human CFHR2 as a novel alternative pathway complement regulator that inhibits the C3 alternative pathway convertase and ..
  7. Chen Q, Wiesener M, Eberhardt H, Hartmann A, Uzonyi B, Kirschfink M, et al. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. J Clin Invest. 2014;124:145-55 pubmed publisher
    ..This deletion resulted in expression of a hybrid CFHR2-CFHR5 plasma protein...
  8. van Beek A, Pouw R, Brouwer M, van Mierlo G, Geissler J, Ooijevaar de Heer P, et al. Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma. Front Immunol. 2017;8:1328 pubmed publisher
    ..In individuals with homozygous CFHR1 deletions or compound heterozygous CFHR2 missense/nonsense mutations identified in this study, the respective FHR-1 and FHR-2 homo- and heterodimers ..
  9. Skerka C, Horstmann R, Zipfel P. Molecular cloning of a human serum protein structurally related to complement factor H. J Biol Chem. 1991;266:12015-20 pubmed
    ..These two clones represent new human members of the family of proteins structurally related to complement factor H. ..
  10. Sullivan M, Erlic Z, Hoffmann M, Arbeiter K, Patzer L, Budde K, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74:17-26 pubmed publisher
    ..Occurrence of homo- and heterozygous mutations in the same gene suggests that the number of necessary DNA variants remains unclear. Among clinical information only familial occurrence predicts a mutation. ..
  11. Skerka C, Moulds J, Taillon Miller P, Hourcade D, Zipfel P. The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene. Immunogenetics. 1995;42:268-74 pubmed
    ..A comparison with the corresponding cDNA sequence (clone DDESK59) shows that the analyzed FHR2 gene has a deleted region within exon 4...
  12. Togarsimalemath S, Sethi S, Duggal R, Le Quintrec M, Jha P, Daniel R, et al. A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. Kidney Int. 2017;92:876-887 pubmed publisher
    ..characterized by Western blot and immunoprecipitation, was shown to circulate in association with CFHR1 and CFHR2, attributable to its two N-terminal dimerization motifs...
  13. Józsi M, Tortajada A, Uzonyi B, Goicoechea de Jorge E, Rodríguez de Córdoba S. Factor H-related proteins determine complement-activating surfaces. Trends Immunol. 2015;36:374-84 pubmed publisher
  14. Chaudhary P, Hepgur M, Sarkissian S, Smith R, Weitz I. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. Blood Transfus. 2014;12:111-3 pubmed publisher
  15. Hughes A, Bridgett S, Meng W, Li M, Curcio C, Stambolian D, et al. Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. Invest Ophthalmol Vis Sci. 2016;57:2763-9 pubmed publisher
    ..However, the striking difference between systemic and ocular expression of complement regulators shown in this study suggests important implications for the development of intraocular and systemic treatments. ..
  16. Hageman G, Hancox L, Taiber A, Gehrs K, Anderson D, Johnson L, et al. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med. 2006;38:592-604 pubmed
    ..The considerable diversity accumulated at this locus may be due to selection, which is consistent with an important role for the CFHR genes in innate immunity. ..
  17. Zipfel P, Skerka C. Complement factor H and related proteins: an expanding family of complement-regulatory proteins?. Immunol Today. 1994;15:121-6 pubmed
    ..Here, Peter Zipfel and Christine Skerka review these similarities and suggest a new nomenclature to identify members of the factor-H-related family. ..
  18. Xiao X, Ghossein C, Tortajada A, Zhang Y, Meyer N, Jones M, et al. Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene. Mol Immunol. 2016;77:89-96 pubmed publisher
    ..These data highlight the role of factor H related proteins in the control of complement activity and illustrate how perturbation of that control leads to C3G. ..
  19. Huang X, Wang Y, Li F, Lin D, Dai M, Wang Q, et al. CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients. J Gene Med. 2016;18:193-8 pubmed publisher
    ..present study, we investigated the potential associations between one of single-nucleotide polymorphisms in the CFHR2 gene with acute anterior uveitis (AAU)...