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NCBI Gene PubMed Count 23
PubMed Score 7.85
PubTator Score 12.62

Knowledge Summary

Patent

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Gene RIF (13)

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. [CFHR4]
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.
22518841 Factor H-related protein 4 activates complement by serving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein
21637784 Systemic lupus erythematosus were detected in European Americans and African Americans, which could be attributed to an intronic complement regulator factor H (CFH) single nucleotide polymorphism (SNP) and an intergenic SNP between CFHR1 and CFHR4.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20181037 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20059470 Observational study of gene-disease association. (HuGE Navigator)
20042240 These data reveal the molecular basis of the specific interaction of CFHR4 with native CRP and suggest a role for CFHR4 in enhancing opsonization via CRP binding.
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.
19084272 These data identify CFHR4 as a novel ligand for native CRP, and suggest a role for CFHR4 in opsonization of necrotic cells.
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AA Sequence

MLLLINVILTLWVSCANGQEVKPCDFPEIQHGGLYYKSLRRLYFPAAAGQSYSYYCDQNFVTPSGSYWDY      1 - 70
IHCTQDGWSPTVPCLRTCSKSDVEIENGFISESSSIYILNEETQYNCKPGYATAEGNSSGSITCLQNGWS     71 - 140
TQPICIKFCDMPVFENSRAKSNGMWFKLHDTLDYECYDGYESSYGNTTDSIVCGEDGWSHLPTCYNSSEN    141 - 210
CGPPPPISNGDTTSFPQKVYLPWSRVEYQCQSYYELQGSKYVTCSNGDWSEPPRCISMKPCEFPEIQHGH    211 - 280
LYYENTRRPYFPVATGQSYSYYCDQNFVTPSGSYWDYIHCTQDGWLPTVPCLRTCSKSDIEIENGFISES    281 - 350
SSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICIKFCDMPVFENSRAKSNGMRFKLHDTLD    351 - 420
YECYDGYEISYGNTTGSIVCGEDGWSHFPTCYNSSEKCGPPPPISNGDTTSFLLKVYVPQSRVEYQCQSY    421 - 490
YELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIQLKGKSDIKYYAKTGDTIEFMCKLGYNANTSV    491 - 560
LSFQAVCREGIVEYPRCE                                                        561 - 578
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Text Mined References (24)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
25979655 2015 Factor H-related proteins determine complement-activating surfaces.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
22518841 2012 Factor H-related protein 4 activates complement by serving as a platform for the assembly of alternative pathway C3 convertase via its interaction with C3b protein.
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.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20181037 2010 Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
20059470 2010 Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
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