CFP — complement factor properdin

15 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

90PubMed Papers

#5,292 · top 27% of 19K genes

21Diseases

top 15%

0Drugs

8Pathogenic Variants

top 56%

OMIM Disease GeneExperimental GO EvidenceSwiss-Prot Reviewed

extracellular regionprotein bindingpositive regulation of complement activation, alternative pathwayprotein stabilizationProperdin deficiencyproperdin deficiency, X-linkedcomplement deficiencyneurodegenerative disease

AI Summary

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complement factor properdin

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Properdin deficiencyOpen Targets

0.76Strong

properdin deficiency, X-linkedOpen Targets

0.58Moderate

complement deficiencyOpen Targets

0.47Moderate

neurodegenerative diseaseOpen Targets

0.29Weak

genetic disorderOpen Targets

0.19Weak

neoplasmOpen Targets

0.11Weak

hepatocellular carcinomaOpen Targets

0.09Suggestive

lung adenocarcinomaOpen Targets

0.08Suggestive

gastric cancerOpen Targets

0.07Suggestive

gastric adenocarcinomaOpen Targets

0.07Suggestive

polycystic ovary syndromeOpen Targets

0.07Suggestive

cancerOpen Targets

0.06Suggestive

atrial fibrillationOpen Targets

0.06Suggestive

osteoarthritisOpen Targets

0.06Suggestive

colorectal carcinomaOpen Targets

0.06Suggestive

Townes-Brocks syndromeOpen Targets

0.05Suggestive

pulmonary fibrosisOpen Targets

0.05Suggestive

chondrocalcinosis 2Open Targets

0.05Suggestive

age-related macular degenerationOpen Targets

0.05Suggestive

infectionOpen Targets

0.05Suggestive

Properdin deficiencyUniProt

Pathogenic Variants8

NM_001145252.3(CFP):c.963G>A (p.Trp321Ter)Pathogenic

not provided

★☆☆☆2025→ Residue 321

NM_001145252.3(CFP):c.481C>T (p.Arg161Ter)Pathogenic

Properdin deficiency, X-linked|not provided

★☆☆☆2024→ Residue 161

NM_001145252.3(CFP):c.767-2A>TLikely pathogenic

Properdin deficiency, X-linked

★☆☆☆2024

NM_001145252.3(CFP):c.227+2T>GLikely pathogenic

not provided

★☆☆☆2022

NM_001145252.3(CFP):c.961T>G (p.Trp321Gly)Pathogenic

not provided

★☆☆☆2019→ Residue 321

NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)Pathogenic

Properdin deficiency, X-linked

☆☆☆☆2000→ Residue 206

NM_001145252.3(CFP):c.893G>T (p.Gly298Val)Pathogenic

Properdin deficiency, X-linked

☆☆☆☆2000→ Residue 298

NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp)Pathogenic

Properdin deficiency, type III

☆☆☆☆1996→ Residue 414

Tissue Expression6 tissues

Bone Marrow

100%

Lung

26%

Liver

17%

Heart

Ovary

Brain

Gene Interaction Network6 neighbors

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Structure13 PDB hits

Preparing viewer…

PDB8Q6R · 1.90 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.52Moderately Constrained

pLIⓘ

0.96Intolerant

Observed/Expected LoF0.33 [0.22–0.52]

Rankings3 dim

Where CFP stands among ~20K protein-coding genes

#5,295of 20,598
Most Researched90
#3,127of 5,520
Most Pathogenic Variants8
#3,203of 17,882
Most Constrained (LOEUF)0.52 · top quartile