Aliases for CFHR2 Gene
External Ids for CFHR2 Gene
Previous HGNC Symbols for CFHR2 Gene
Previous GeneCards Identifiers for CFHR2 Gene
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
GeneCards Summary for CFHR2 Gene
CFHR2 (Complement Factor H Related 2) is a Protein Coding gene. Diseases associated with CFHR2 include Degeneration Of Macula And Posterior Pole and Skeletal Tuberculosis. Among its related pathways are Complement and coagulation cascades. An important paralog of this gene is CFHR1.
UniProtKB/Swiss-Prot Summary for CFHR2 Gene
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.