CFP

Chr Xp11.23

complement factor properdin

MANE:: ENST00000396992.8

OMIM: 300383 ↗NCBI: 5199 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFP · P27918

v62025-08-01

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

Mean pLDDT

83.3/ 100

Confident

469 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)23%
Low(50–70)18%
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Properdin deficiency
0.75
properdin deficiency, X-linked
0.51
complement deficiency
0.47
neurodegenerative disease
0.29
hereditary disease
0.19
neoplasm
0.12
hepatocellular carcinoma
0.09
polycystic ovary syndrome
0.09
atrial fibrillation
0.08
colorectal carcinoma
0.08

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

Protein function (UniProt)

Properdin

A positive regulator of the alternate pathway (AP) of complement (PubMed:16301317, PubMed:20382442, PubMed:28264884, PubMed:9748277). It binds to and stabilizes the C3- and C5-convertase enzyme complexes (PubMed:16301317, PubMed:20382442, PubMed:28264884, PubMed:9748277). Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b) (PubMed:31507604)