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CFHR5 Genecomplement factor H-related 5 This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010] |
cfhr5 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cfhr5 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
CFHR5 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for CFHR5 from the Pathway Commons Protein-Protein Interactions dataset. |
CFHR5 Gene SetFrom LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the CFHR5 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. |
nephropathy due to cfhr5 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cfhr5 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cfhr5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
CFHR5 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CFHR5 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |