Reviewed December 2015
What is the official name of the CFHR5 gene?
The official name of this gene is “complement factor H related 5.”
CFHR5 is the gene's official symbol. The CFHR5 gene is also known by other names, listed below.
What is the normal function of the CFHR5 gene?
The CFHR5 gene provides instructions for making a protein called complement factor H-related 5. The precise function of this protein is unknown. However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). This similarity provides clues to the probable function of complement factor H-related 5.
Complement factor H regulates a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells. Complement factor H helps to protect healthy cells by preventing the complement system from being turned on (activated) when it is not needed. Studies suggest that complement factor H-related 5 also plays a role in controlling the complement system.
Does the CFHR5 gene share characteristics with other genes?
The CFHR5 gene belongs to a family of genes called complement (complement system).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the CFHR5 gene related to health conditions?
- C3 glomerulopathy - caused by mutations in the CFHR5 gene
Several mutations in the CFHR5 gene have been found to cause a rare form of kidney disease called C3 glomerulopathy. This disorder damages the kidneys and can lead to end-stage renal disease (ESRD), a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
The most common CFHR5 gene mutation has been identified in people from the Mediterranean island of Cyprus. This genetic change abnormally copies (duplicates) regions of the CFHR5 gene known as exons 2 and 3. The duplication alters the structure and function of complement factor H-related 5, preventing it from regulating the complement system effectively. As a result, the complement system becomes overactive, which damages structures called glomeruli in the kidneys. These structures are clusters of tiny blood vessels that help filter waste products from the blood. Damage to glomeruli prevents the kidneys from filtering waste products normally and can lead to ESRD.
Several other changes involving the CFHR5 gene do not cause C3 glomerulopathy directly but appear to increase the likelihood of developing the disorder. It is unclear how variations in this gene affect the regulation of the complement system, and researchers are still working to determine how these genetic changes contribute to disease risk.
Where is the CFHR5 gene located?
Cytogenetic Location: 1q31.3
Molecular Location on chromosome 1: base pairs 196,975,037 to 197,009,678
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/81494))
The CFHR5 gene is located on the long (q) arm of chromosome 1 at position 31.3.
More precisely, the CFHR5 gene is located from base pair 196,975,037 to base pair 197,009,678 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CFHR5?
You and your healthcare professional may find the following resources about CFHR5 helpful.
Educational resources - Information pages
- Immunobiology (fifth edition, 2001): The Complement System and Innate Immunity (http://www.ncbi.nlm.nih.gov/books/NBK27100/)
- The Merck Manual for Healthcare Professionals: Complement System (http://www.merckmanuals.com/professional/immunology-allergic-disorders/biology-of-the-immune-system/complement-system.html?qt=&sc=&alt=)
Gene Reviews - Clinical summary
- Gene Review: Atypical Hemolytic-Uremic Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1367)
- Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II (http://www.ncbi.nlm.nih.gov/books/NBK1425)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CFHR5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=81494%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28CFHR5%5BTIAB%5D%29%20OR%20%28%28complement%20factor%20H-related%20protein%205%5BTIAB%5D%29%20OR%20%28factor%20H-related%20protein%205%5BTIAB%5D%29%20OR%20%28FHR-5%5BTIAB%5D%29%20OR%20%28FHR5%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608593)
Research Resources - Tools for researchers
- HGNC Gene Family: Complement system (http://www.genenames.org/cgi-bin/genefamilies/set/492)
- HGNC Gene Family: Sushi domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/1179)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=24668)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81494)
What other names do people use for the CFHR5 gene or gene products?
- complement factor H-related 5
- complement factor H-related protein 5
- factor H-related protein 5
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CFHR5?
end-stage renal disease ;
immune response ;
innate immunity ;
renal disease ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet. 2006 Jul;43(7):582-9. Epub 2005 Nov 18. (http://www.ncbi.nlm.nih.gov/pubmed/16299065?dopt=Abstract)
- Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C. Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees. Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12. (http://www.ncbi.nlm.nih.gov/pubmed/21566112?dopt=Abstract)
- Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. Adv Exp Med Biol. 2013;735:189-96. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23402027?dopt=Abstract)
- Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25. (http://www.ncbi.nlm.nih.gov/pubmed/20800271?dopt=Abstract)
- Gale DP, Maxwell PH. C3 glomerulonephritis and CFHR5 nephropathy. Nephrol Dial Transplant. 2013 Feb;28(2):282-8. doi: 10.1093/ndt/gfs441. Epub 2012 Nov 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23125424?dopt=Abstract)
- Gale DP, Pickering MC. Regulating complement in the kidney: insights from CFHR5 nephropathy. Dis Model Mech. 2011 Nov;4(6):721-6. doi: 10.1242/dmm.008052. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22065842?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81494)
- Xiao X, Pickering MC, Smith RJ. C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost. 2014 Jun;40(4):465-71. doi: 10.1055/s-0034-1376334. Epub 2014 May 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24799308?dopt=Abstract)
- Zipfel PF, Skerka C, Chen Q, Wiech T, Goodship T, Johnson S, Fremeaux-Bacchi V, Nester C, de Córdoba SR, Noris M, Pickering M, Smith R. The role of complement in C3 glomerulopathy. Mol Immunol. 2015 Sep;67(1):21-30. doi: 10.1016/j.molimm.2015.03.012. Epub 2015 Apr 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/25929733?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.