Property Summary

NCBI Gene PubMed Count 43
PubMed Score 27.78
PubTator Score 32.92

Knowledge Summary

Patent

No data available

Expression

Gene RIF (34)

PMID Text
27196323 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins.[CFHR3]
26163426 These results suggest that the combination of quantitative and qualitative variations in the complement proteins encoded by CFH, CFHR3 and CFHR1 genes is key for the association of these haplotypes with disease.
25979655 Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
25205734 Genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby predispose patients to develop IgA nephropathy.
24557084 we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA).
24333077 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24088957 Prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS.
22848687 genetic variations in CFH and its related genes may contribute to hypertension risk in Chinese Hans
22626820 A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
22558131 Significant association was identified for the CFHR3-1 deletion in age-related macular degeneration cases, for both neovascular disease and geographic atrophy.
22058112 A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion is associated with familial atypical hemolytic uremic syndrome.
21856016 In this matched subset of Age-Related Eye Disease Study (AREDS) subjects, after adjusting for 2 known risk variants in CFH, CNP147 deletion statistically associates with diminished risk for AMD.
21850184 Combined deletion of CFHR3 and CFHR1is associated with a decreased risk of developing age-related macular degeneration.
21677662 Data show that 698 CNPs loci overlap with known disease-associated or pharmacogenetic-related genes such as CFHR3, CFHR1, GSTTI and UGT2B17.
21637784 A change in gene dosage of the encoded proteins CFHR3 and CFHR1 might account for the increased systemic lupus erythematosus.
20843825 deficiency of CFHR3 and CFHR1 results in a loss of complement control but enhances local regulation by factor H; alludes to critical balance between CFHR3, CFHR1 and factor H and emphasize role of complement regulation in age-related macular degeneration
20694013 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20592223 Observational study of gene-disease association. (HuGE Navigator)
20581873 Data from haplotype analysis demonstrates the relationship between the CFH rs10737680 association and the CFHR1-3Delta association in age-related macular degeneration.
20581873 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20059470 Observational study of gene-disease association. (HuGE Navigator)
19861685 Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
19553609 Deletion of CFHR3 and CFHR1 protected against the development of AMD at least in part because the deletion tagged a protective haplotype and did not occur on the risk haplotype.
19553609 Observational study of gene-disease association. (HuGE Navigator)
19531976 Results describe a correlation between the development of complement factor H autoantibodies and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, in atypical hemolytic uremic syndrome.
18084039 deletion of CFHR1 and CFHR3 may account for a small portion of the protection from age-related macular degeneration associated with particular haplotypes in complement factor H.
18084039 Observational study of gene-disease association. (HuGE Navigator)
18006700 either lacked the CFHR1/CFHR3 completely (n = 14) or showed extremely low CFHR1/CFHR3 plasma levels (n = 2) are positive for factor H (CFH) autoantibodies
17438673 Observational study of gene-disease association. (HuGE Navigator)
17367211 Deletion of two closely related genes, complement factor H-related 1 (CFHR1) and complement factor H-related 3 (CFHR3), increases the risk of atypical hemolytic uremic syndrome.
16998489 A common haplotype was associated with decreased risk of AMD. This haplotype carried a deletion of CFHR1 and CFHR3, and the proteins encoded by these genes were absent in serum of homozygotes.
16998489 Observational study of gene-disease association. (HuGE Navigator)
10781834 First detailed description of structure of human FHR3 gene

AA Sequence

MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDYI      1 - 70
HCTQNGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGLPKAQTTVTCTEKGWSPTPRC     71 - 140
IRVRTCSKSDIEIENGFISESSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICINSSEKC    141 - 210
GPPPPISNGDTTSFLLKVYVPQSRVEYQCQPYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNI    211 - 280
KLKGRSDRKYYAKTGDTIEFMCKLGYNANTSILSFQAVCREGIVEYPRCE                        281 - 330
//

Text Mined References (44)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
26163426 2015 Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
25979655 2015 Factor H-related proteins determine complement-activating surfaces.
25205734 2015 Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
24557084 2014 Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration.
24333077 2014 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24088957 2014 Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
22848687 2012 Associations of CFH polymorphisms and CFHR1-CFHR3 deletion with blood pressure and hypertension in Chinese population.
22626820 2012 A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
22558131 2012 Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22058112 2012 A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome.
21856016 2011 Association assessment of copy number polymorphism and risk of age-related macular degeneration.
21850184 2011 Copy number variation in the complement factor H-related genes and age-related macular degeneration.
21677662 2011 Copy number polymorphisms in new HapMap III and Singapore populations.
21637784 2011 Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
21399633 2011 Genome-wide association study identifies susceptibility loci for IgA nephropathy.
20843825 2010 An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
20592223 2010 Complement factor h autoantibodies and age-related macular degeneration.
20581873 2010 Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20059470 2010 Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
19861685 2010 Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
19553609 2009 Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.
19531976 2009 Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18084039 2008 Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.
18006700 2008 Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.
17438673 2006 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.
17367211 2007 Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16998489 2006 A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10781834 Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes.
10622723 1999 Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin.
10380701 1999 A radiation hybrid map of complement factor H and factor H-related genes.
8428964 1993 A novel short consensus repeat-containing molecule is related to human complement factor H.
8172644 1994 Complement factor H and related proteins: an expanding family of complement-regulatory proteins?