Property Summary

NCBI Gene PubMed Count 33
Grant Count 2
R01 Count 2
Funding $288,922.25
PubMed Score 28.75
PubTator Score 39.68

Knowledge Summary

Patent

No data available

Gene RIF (26)

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. [CFHR5]
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.
25855355 In this study, we identify pentraxin 3 (PTX3) as a novel ligand of CFHR5
24334459 A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.
24067434 At least two distinct intronic breakpoints within the CFHR5 gene can cause the same mutant CFHR5 protein and C3 glomerulopathy.
23402027 Recent investigations in London and Cyprus culminated in the identification of another autosomal dominant condition that presents with microscopic haematuria because of heterozygous mutations in the CFHR5 gene--{review}
22622361 A potentially pathogenic sequence variation was found in CFHR5 in the patients with atypical hemolytic uremic syndrome.
22065842 CFHR5 nephropathy is discussed.
21566112 Describe the clinical course, significant variable expressivity, and marked gender difference regarding the development of chronic renal failure in familial C3 glomerulopathy associated with CFHR5 mutations.
20800271 evidence for an inherited renal disease, endemic in Cyprus, characterised by microscopic and synpharyngitic macroscopic haematuria, renal failure and C3 glomerulonephritis; affected individuals have an internal duplication within the gene for CFHR5
More...

AA Sequence

MLLLFSVILISWVSTVGGEGTLCDFPKIHHGFLYDEEDYNPFSQVPTGEVFYYSCEYNFVSPSKSFWTRI      1 - 70
TCTEEGWSPTPKCLRMCSFPFVKNGHSESSGLIHLEGDTVQIICNTGYSLQNNEKNISCVERGWSTPPIC     71 - 140
SFTKGECHVPILEANVDAQPKKESYKVGDVLKFSCRKNLIRVGSDSVQCYQFGWSPNFPTCKGQVRSCGP    141 - 210
PPQLSNGEVKEIRKEEYGHNEVVEYDCNPNFIINGPKKIQCVDGEWTTLPTCVEQVKTCGYIPELEYGYV    211 - 280
QPSVPPYQHGVSVEVNCRNEYAMIGNNMITCINGIWTELPMCVATHQLKRCKIAGVNIKTLLKLSGKEFN    281 - 350
HNSRIRYRCSDIFRYRHSVCINGKWNPEVDCTEKREQFCPPPPQIPNAQNMTTTVNYQDGEKVAVLCKEN    351 - 420
YLLPEAKEIVCKDGRWQSLPRCVESTAYCGPPPSINNGDTTSFPLSVYPPGSTVTYRCQSFYKLQGSVTV    421 - 490
TCRNKQWSEPPRCLDPCVVSEENMNKNNIQLKWRNDGKLYAKTGDAVEFQCKFPHKAMISSPPFRAICQE    491 - 560
GKFEYPICE                                                                 561 - 569
//

Text Mined References (35)

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.
25855355 2015 Factor H-related protein 5 interacts with pentraxin 3 and the extracellular matrix and modulates complement activation.
24925725 2014 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
24334459 2014 Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
24067434 2014 A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23487775 2013 Dimerization of complement factor H-related proteins modulates complement activation in vivo.
23402027 2013 C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
More...