CFD

Chr 19p13.3

complement factor D

Aliases:: ADN
MANE:: ENST00000327726.11

OMIM: 134350 ↗NCBI: 1675 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CFD · P00746

v62025-08-01

Predicted Aligned Error matrix for CFD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.0/ 100

Very high

253 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

recurrent Neisseria infections due to factor D deficiency
0.77
paroxysmal nocturnal hemoglobinuria
0.49
complement deficiency
0.46
hemolysis
0.46
Guillouet-Gordon syndrome
0.43
atrophic macular degeneration
0.36
neurodegenerative disease
0.32
gastrointestinal disease
0.29
age-related macular degeneration
0.29
macular degeneration
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement factor D

Serine protease that initiates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:21205667, PubMed:22362762, PubMed:6769474, PubMed:874324, PubMed:9748277). In contrast to other complement pathways (classical, lectin and GZMK) that are directly activated by pathogens or antigen-antibody complexes, the alternative complement pathway is initiated by the spontaneous hydrolysis of complement C3 (PubMed:21205667, PubMed:22362762, PubMed:6769474, PubMed:874324). The alternative complement pathway acts as an amplification loop that enhances complement activation by mediating the formation of C3 and C5 convertases (PubMed:21205667, PubMed:22362762, PubMed:6769474, PubMed:874324). Activated CFD cleaves factor B (CFB) when the latter is complexed with complement C3b, activating the C3 convertase of the alternative pathway (PubMed:21205667, PubMed:6769474, PubMed:874324, PubMed:9748277)