Gene: CFHR2

Alternate names for this Gene: CFHL2|FHR2|HFL3

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: complement factor H related 2

Type of Gene: protein-coding

rs1853881 in CFHR2 gene and Age related macular degeneration PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

rs12066959 in CFHR2 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.