CFD (Complement Factor D) Gene
Key serine protease in the alternative complement pathway
Gene Information Card
| Symbol | CFD |
|---|---|
| Full Name | Complement Factor D |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 1675 ncbi.nlm.nih.gov/gene/1675 |
| Ensembl ID | ENSG00000197766 |
| UniProt ID | P00746 |
| OMIM ID | 134350 |
| HGNC ID | 2771 |
| Aliases | ADN, ADIPSIN, PFD |
Description
The CFD gene encodes complement factor D, a serine protease that is a critical component of the alternative complement pathway. It cleaves complement factor B when bound to C3b, generating the C3 convertase (C3bBb) and initiating the amplification loop of complement activation. Factor D is primarily expressed in adipose tissue and is also known as adipsin. Deficiencies in CFD are associated with recurrent bacterial infections and immune complex diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Complement Factor D Deficiency | Loss-of-function mutations in CFD impair alternative pathway activation, leading to increased susceptibility to Neisseria infections. | ClinVar, OMIM |
| Age-Related Macular Degeneration (AMD) | Dysregulation of the alternative complement pathway, including CFD variants, contributes to chronic inflammation and retinal damage. | ClinVar, NCBI |
| Atypical Hemolytic Uremic Syndrome (aHUS) | Gain-of-function or overactive complement due to CFD mutations can lead to uncontrolled complement activation and endothelial damage. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 0.8 | Low |
| Kidney | 0.3 | Low |
| Pancreas | 0.2 | Low |
| Spleen | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes | 15.2 | High expression |
| HepG2 (liver) | 1.1 | Low expression |
| HEK293 (kidney) | 0.4 | Not detected |
| THP-1 (monocyte) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.565C>T (p.Arg189Trp) | Missense | Rare | Loss of function; associated with complement factor D deficiency |
| c.584G>A (p.Arg195His) | Missense | Rare | Reduced enzymatic activity; linked to AMD risk |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein; severe immunodeficiency |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations that reduce or abolish factor D activity, leading to complement deficiency and recurrent infections.
Gain of Function (GOF)
Rare variants that increase catalytic efficiency or resistance to regulation, potentially contributing to aHUS or AMD.
Dominant Negative (DN)
Not well documented for CFD; most mutations are recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • complement activation (GO:0006956) | • complement activation (GO:0006957) |
| • hydrolase activity (GO:0016787) |
Pathways
• Alternative complement pathway (Reactome: R-HSA-173736)
• Complement cascade (KEGG: hsa04610)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Complement factor D (adipsin) is a 253-amino acid serine protease secreted primarily by adipocytes. It is the rate-limiting enzyme of the alternative complement pathway, cleaving factor B to generate the C3 convertase. The protein has a chymotrypsin-like fold and is stabilized by three disulfide bonds. Its activity is tightly regulated; deficiency leads to impaired opsonization and lysis of pathogens, while overactivity is linked to inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCFD2 Knockout HEK293 Cell Line | EDJ-KQ3117 | Human | 90411 | Details Get a Quote |
| SCFD2 Knockout HEK293 Cell Line | EDJ-KQ3524 | Human | 152579 | Details Get a Quote |
| CACFD1 Knockout HEK293 Cell Line | EDJ-KQ7281 | Human | 11094 | Details Get a Quote |
| CACFD1 Knockout A-549 Cell Line | EDJ-KQ30931 | Human | 11094 | Details Get a Quote |
| SCFD2 Knockout A-549 Cell Line | EDJ-KQ25355 | Human | 152579 | Details Get a Quote |
| SCFD2 Knockout HCT 116 Cell Line | EDJ-KQ25356 | Human | 152579 | Details Get a Quote |
| SCFD2 Knockout HeLa Cell Line | EDJ-KQ25357 | Human | 152579 | Details Get a Quote |
| MCFD2 Knockout A-549 Cell Line | EDJ-KQ25830 | Human | 90411 | Details Get a Quote |
| MCFD2 Knockout HCT 116 Cell Line | EDJ-KQ25832 | Human | 90411 | Details Get a Quote |
| MCFD2 Knockout HeLa Cell Line | EDJ-KQ25833 | Human | 90411 | Details Get a Quote |
| CACFD1 Knockout HCT 116 Cell Line | EDJ-KQ32309 | Human | 11094 | Details Get a Quote |
| CACFD1 Knockout HeLa Cell Line | EDJ-KQ32310 | Human | 11094 | Details Get a Quote |
| CFD Knockout HEK293 Cell Line | EDJ-KQ50236 | Human | 1675 | Details Get a Quote |
| CFD Knockout HeLa Cell Line | EDJ-KQ53088 | Human | 1675 | Details Get a Quote |
| CFD Knockout A-549 Cell Line | EDJ-KQ61555 | Human | 1675 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
