CFH
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| complement factor H | MIM:134370 | Ensembl:ENSG00000000971 | HGNC:HGNC:4883 | PA29261 | 1q31.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in CFH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008201 | heparin binding |
| MF | IDA | GO:0043395 | heparan sulfate proteoglycan binding |
| BP | IDA | GO:0006956 | complement activation |
| BP | IEA | GO:0006957 | complement activation, alternative pathway |
| BP | IEA | GO:0016032 | viral process |
| BP | TAS | GO:0030449 | regulation of complement activation |
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005615 | extracellular space |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | HDA | GO:0072562 | blood microparticle |
Gene expression in normal tissue: CFH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CFH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-166658 | Complement cascade |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-977606 | Regulation of Complement cascade |
| kegg | hsa04610 | Complement and coagulation cascades - Homo sapiens (human) |
| kegg | hsa05150 | Staphylococcus aureus infection - Homo sapiens (human) |
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP3896 | Dengue-2 Interactions with Complement and Coagulation Cascades |
| wikipathways | WP558 | Complement and Coagulation Cascades |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CFH
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