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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CD59
CD59 molecule (CD59 blood group)
Chromosome 11 · 11p13
NCBI Gene: 966Ensembl: ENSG00000085063.19HGNC: HGNC:1689UniProt: P13987
287PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of complement activationregulation of complement-dependent cytotoxicityprotein bindingprotein sequestering activityprimary CD59 deficiencycomplement deficiencydyskeratosis congenita, X-linkedgenetic disorder
✦AI Summary

CD59 is a membrane-bound complement regulatory protein that protects cells from damage during complement activation 1. Functionally, CD59 inhibits membrane attack complex (MAC) assembly by binding to the pore-forming β-hairpins of C8 and deflecting C9 monomers, preventing their membrane insertion and polymerization into lytic pores 2. This dual mechanism—blocking C8 insertion and redirecting C9 trajectory—halts MAC formation downstream of C5b-8 intermediates 3. CD59 is particularly essential for protecting hematopoietic and neuronal tissues 1. Loss-of-function mutations cause CD59 deficiency, characterized by complement-mediated hemolytic anemia and severe neurological complications including recurrent demyelinating neuropathy and stroke, affecting 100% and 92% of patients respectively 4. In paroxysmal nocturnal hemoglobinuria (PNH), somatic PIGA mutations prevent GPI-anchor synthesis, eliminating CD59 surface expression on red blood cells and causing intravascular hemolysis, thrombosis, and potential mortality 56. Additionally, cancer cells exploit CD59 upregulation via EGFR/Wnt signaling to suppress complement-mediated immune activation and evade CD8+ T cell responses 7. Clinically, CD59 loss-of-function demonstrates the critical importance of complement regulation in maintaining cellular integrity and immune homeostasis, with complement inhibition providing therapeutic benefit in both genetic deficiency and acquired complement disorders.

Sources cited
1
CD59 is essential complement regulatory protein for protection of hematopoietic cells and neuronal tissue against complement attack
PMID: 26043388
2
CD59 binds C8 β-hairpins and deflects C9 polymerization to prevent MAC pore insertion and formation
PMID: 36797260
3
CD59 inhibits MAC assembly by binding C5b-8 intermediates and blocking C9 recruitment and polymerization
PMID: 40523671
4
CD59 mutations cause demyelinating neuropathy (92% of patients), recurrent strokes (50%), and retinal involvement (8%)
PMID: 28622911
5
PNH is caused by PIGA mutations leading to CD59 GPI-anchor deficiency, causing erythrocyte hemolysis and thrombosis
PMID: 28516949
6
PNH results from PIGA mutations preventing CD55 and CD59 expression, leading to complement-mediated hemolysis
PMID: 39273426
7
Cancer cells upregulate CD59 via EGFR/Wnt signaling to suppress complement activation and CD8+ T cell responses
PMID: 36271172
Disease Associationsⓘ21
primary CD59 deficiencyOpen Targets
0.77Strong
complement deficiencyOpen Targets
0.46Moderate
dyskeratosis congenita, X-linkedOpen Targets
0.37Weak
genetic disorderOpen Targets
0.18Weak
paroxysmal nocturnal hemoglobinuriaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
obstructive sleep apneaOpen Targets
0.08Suggestive
hemolytic-uremic syndromeOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
Mungan syndromeOpen Targets
0.07Suggestive
neuromyelitis opticaOpen Targets
0.07Suggestive
autoimmune diseaseOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
Hemolytic anemia, CD59-mediated, with or without polyneuropathyUniProt
Pathogenic Variants10
NM_000611.6(CD59):c.2T>C (p.Met1Thr)Likely pathogenic
Primary CD59 deficiency|not provided
★★☆☆2025→ Residue 1
NM_000611.6(CD59):c.282del (p.Leu93_Cys94insTer)Likely pathogenic
Primary CD59 deficiency
★☆☆☆2025→ Residue 93
NM_000611.6(CD59):c.190del (p.Cys64fs)Likely pathogenic
Primary CD59 deficiency
★☆☆☆2024→ Residue 64
NM_000611.6(CD59):c.143_144del (p.Asp47_Phe48insTer)Likely pathogenic
Primary CD59 deficiency
★☆☆☆2024→ Residue 47
NM_000611.6(CD59):c.266G>A (p.Cys89Tyr)Pathogenic
Primary CD59 deficiency|not provided
★☆☆☆2024→ Residue 89
NM_000611.6(CD59):c.301del (p.Glu101fs)Likely pathogenic
Primary CD59 deficiency
★☆☆☆2024→ Residue 101
NM_000611.6(CD59):c.183_184dup (p.Asn62fs)Likely pathogenic
not provided
★☆☆☆2024→ Residue 62
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr)Likely pathogenic
Primary CD59 deficiency
★☆☆☆2022→ Residue 28
NM_000611.6(CD59):c.146del (p.Asp49fs)Pathogenic
Primary CD59 deficiency
☆☆☆☆2014→ Residue 49
NM_000611.6(CD59):c.123del (p.Val42fs)Pathogenic
Primary CD59 deficiency
☆☆☆☆2013→ Residue 42
View on ClinVar ↗
Related Genes
CFPProtein interaction100%CD46Protein interaction100%C3Protein interaction97%CLUProtein interaction96%CD2Protein interaction95%VTNProtein interaction89%
Tissue Expression6 tissues
Lung
100%
Heart
96%
Brain
47%
Bone Marrow
33%
Ovary
30%
Liver
29%
Gene Interaction Network
Click a node to explore
CD59CFPCD46C3CLUCD2VTN
PROTEIN STRUCTURE
Preparing viewer…
PDB2J8B · 1.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.57Intermediate
Observed/Expected LoF0.00 [0.00–1.28]
RankingsWhere CD59 stands among ~20K protein-coding genes
  • #1,244of 20,598
    Most Researched287 · top 10%
  • #2,822of 5,498
    Most Pathogenic Variants10
  • #13,455of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedCD59
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Paroxysmal nocturnal haemoglobinuria.
PMID: 28516949
Nat Rev Dis Primers · 2017
1.00
2
Silencing EGFR-upregulated expression of CD55 and CD59 activates the complement system and sensitizes lung cancer to checkpoint blockade.
PMID: 36271172
Nat Cancer · 2022
0.90
3
Navigating the Complement Pathway to Optimize PNH Treatment with Pegcetacoplan and Other Currently Approved Complement Inhibitors.
PMID: 39273426
Int J Mol Sci · 2024
0.80
4
Congenital CD59 Deficiency.
PMID: 26043388
Hematol Oncol Clin North Am · 2015
0.70
5
Complement in hemolytic anemia.
PMID: 26582375
Blood · 2015
0.64