CFP Gene - Complement Factor Properdin
A key positive regulator of the alternative complement pathway
Gene Information Card
| Symbol | CFP |
|---|---|
| Full Name | Complement Factor Properdin |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.4 |
| NCBI Gene ID | 5199 ncbi.nlm.nih.gov/gene/5199 |
| Ensembl ID | ENSG00000126759 |
| UniProt ID | P27918 |
| OMIM ID | 300383 |
| HGNC ID | 8864 |
| Aliases | PFC, properdin |
Description
The CFP gene encodes properdin, a plasma glycoprotein that acts as a positive regulator of the alternative complement pathway. Properdin stabilizes the C3 and C5 convertase enzyme complexes, thereby promoting complement activation and opsonization of pathogens. It is primarily produced by leukocytes and plays a critical role in innate immunity, particularly against Neisseria meningitidis. Deficiency of properdin is associated with increased susceptibility to meningococcal infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Properdin deficiency, X-linked | Loss-of-function mutations in CFP impair alternative pathway activation, reducing opsonization and lysis of Neisseria meningitidis. | OMIM #312060; ClinVar |
| Meningococcal disease, susceptibility to | Deficient properdin leads to impaired complement-mediated killing of Neisseria meningitidis, increasing infection risk. | OMIM #300383; PubMed studies |
| Age-related macular degeneration (AMD) | Altered complement regulation via properdin may contribute to drusen formation and retinal degeneration. | GWAS; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.2 | Not detected |
| Spleen | 1.5 | Low |
| Bone marrow | 3.8 | Medium |
| Lung | 0.5 | Not detected |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 2.1 | Low expression |
| HL-60 (promyeloblast) | 1.8 | Low expression |
| K-562 (erythroleukemia) | 0.1 | Not detected |
| HeLa (cervical) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.853C>T (p.Arg285*) | Nonsense | Rare | Loss of function; truncation of properdin protein |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Impaired properdin secretion and function |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most reported CFP mutations are loss-of-function, leading to properdin deficiency and increased susceptibility to meningococcal disease.
Gain of Function (GOF)
No gain-of-function mutations have been described for CFP.
Dominant Negative (DN)
No dominant-negative effects have been reported; deficiency is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • plasma membrane (GO:0005886) |
| • complement activation (GO:0001869) | • complement activation (GO:0006956) |
| • protein binding (GO:0005515) | • cell killing (GO:0001906) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Alternative complement pathway (Reactome: R-HSA-173736)
Protein Summary
Properdin is a 53 kDa plasma glycoprotein composed of six thrombospondin type-1 repeats. It forms cyclic polymers (dimers, trimers, tetramers) that bind to and stabilize the alternative pathway C3 and C5 convertases. Properdin is the only known positive regulator of complement activation. It is stored in secondary granules of neutrophils and released upon activation. Deficiency results in impaired opsonization and increased susceptibility to Neisseria infections.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFP Knockout HEK293 Cell Line | EDJ-KQ2055 | Human | 5199 | Details Get a Quote |
| CFP Knockout HeLa Cell Line | EDJ-KQ54121 | Human | 5199 | Details Get a Quote |
| CFP Knockout A-549 Cell Line | EDJ-KQ62609 | Human | 5199 | Details Get a Quote |
| CFP Knockout HCT 116 Cell Line | EDJ-KQ71083 | Human | 5199 | Details Get a Quote |
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