CFP
Summary: This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300383 Ensembl IDEnsembl:ENSG00000126759 HGNC IDHGNC:HGNC:8864 PHARMGKB IDPA33206 Map LocationXp11.23 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in CFP
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006508 | proteolysis |
| BP | TAS | GO:0006955 | immune response |
| BP | TAS | GO:0006956 | complement activation |
| BP | TAS | GO:0006957 | complement activation, alternative pathway |
| BP | TAS | GO:0030449 | regulation of complement activation |
| BP | TAS | GO:0042742 | defense response to bacterium |
Gene expression in normal tissue: CFP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CFP
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP545 | Complement Activation |
| kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
| biocarta | alternativepathway | alternative complement pathway |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-166658 | Complement cascade |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CFP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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