Property Summary

NCBI Gene PubMed Count 17
PubMed Score 8.46
PubTator Score 7.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count Z-score Confidence
Age related macular degeneration 84 0.0 5.0
Disease Target Count Z-score Confidence
hemolytic-uremic syndrome 28 3.112 1.6

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
//

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.
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.
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).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10380701 1999 A radiation hybrid map of complement factor H and factor H-related genes.
8172644 1994 Complement factor H and related proteins: an expanding family of complement-regulatory proteins?
7672821 1995 The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene.
1711047 1991 Molecular cloning of a human serum protein structurally related to complement factor H.
1533657 1992 Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes.