Summary: This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011].

complement factor HMIM:134370Ensembl:ENSG00000000971HGNC:HGNC:4883PA292611q31.3

Gene Categories:


GO terms in CFH

Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFIDAGO:0008201heparin binding
MFIDAGO:0043395heparan sulfate proteoglycan binding
BPIDAGO:0006956complement activation
BPIEAGO:0006957complement activation, alternative pathway
BPIEAGO:0016032viral process
BPTASGO:0030449regulation of complement activation
CCTASGO:0005576extracellular region
CCTASGO:0005615extracellular space
CCHDAGO:0070062extracellular exosome
CCHDAGO:0072562blood microparticle

Gene expression in normal tissue: CFH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CFH

DatabasePathway IDPathway Des.
reactomeR-HSA-166658Complement cascade
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-977606Regulation of Complement cascade
kegghsa04610Complement and coagulation cascades - Homo sapiens (human)
kegghsa05150Staphylococcus aureus infection - Homo sapiens (human)
wikipathwaysWP2806Human Complement System
wikipathwaysWP3896Dengue-2 Interactions with Complement and Coagulation Cascades
wikipathwaysWP558Complement and Coagulation Cascades

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CFH