CFHR2

complement factor H related 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Cytogenetic Location: 1q31.3, which is the long (q) arm of chromosome 1 at position 31.3

Molecular Location: base pairs 196,943,752 to 196,959,328 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q31.3, which is the long (q) arm of chromosome 1 at position 31.3
  • CFHL2
  • FHR2
  • HFL3