Property Summary

NCBI Gene PubMed Count 17
PubMed Score 8.46
PubTator Score 7.67

Knowledge Summary

Patent

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TINX Plot

  Disease Relevance (2)

Gene RIF (9)

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. [CFHR2]
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.
24334459 A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.
24333077 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24260121 Thus CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20059470 Observational study of gene-disease association. (HuGE Navigator)
18541031 Observational study of gene-disease association. (HuGE Navigator)
17438673 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRI      1 - 70
TCAEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKC     71 - 140
RSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVIS    141 - 210
QEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK              211 - 270
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Text Mined References (19)

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.
24334459 2014 Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
24333077 2014 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24260121 2013 Human factor H-related protein 2 (CFHR2) regulates complement activation.
23487775 2013 Dimerization of complement factor H-related proteins modulates complement activation in vivo.
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.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18541031 2008 The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.
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