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 dense deposit disease and degeneration of macula and posterior pole. An important paralog of this gene is F13B.
UniProtKB/Swiss-Prot 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.