Genomes and Genes
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
- Tortajada A, YÃ©benes H, Abarrategui Garrido C, Anter J, GarcÃa FernÃ¡ndez J, MartÃnez 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...
- 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)...
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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 ..
- 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. ..
- 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. ..
- 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...
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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)...