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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C5
complement C5
Chromosome 9 Β· 9q33.2
NCBI Gene: 727Ensembl: ENSG00000106804.10HGNC: HGNC:1331UniProt: A0A8Q3SID6
306PubMed Papers
21Diseases
13Drugs
54Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
complement activation, GZMK pathwayextracellular exosomepositive regulation of vascular endothelial growth factor productionnegative regulation of macrophage chemotaxisImmunodeficiency due to a late component of complements deficiencyparoxysmal nocturnal hemoglobinuriaMyasthenia gravisatypical hemolytic-uremic syndrome
✦AI Summary

C5 (complement component 5) is a central mediator of the terminal complement pathway that functions through proteolytic cleavage by C5 convertases to generate biologically active fragments C5a and C5b 12. Upon cleavage, C5a acts as a potent anaphylatoxin and chemokine that binds to receptors C5AR1 and C5AR2, triggering G protein-coupled receptor signaling pathways that induce inflammatory responses including intracellular calcium release, smooth muscle contraction, increased vascular permeability, and histamine release from mast cells 1. The C5b fragment initiates formation of the membrane attack complex (MAC), which creates cytolytic pores in target cell membranes 2. C5 activation occurs through all three complement pathways and can be triggered by various stimuli including heme, which induces complement activation via the alternative pathway and promotes thromboinflammation 3. Human skin mast cells can produce C5 protein, though at lower levels than C3, suggesting local complement regulation 4. C5 plays critical roles in bacterial defense, with C5-dependent IL-8 release and phagocytosis being essential for controlling Gram-positive bacterial infections 5. Therapeutic targeting of C5 has shown promise, with inhibitors like eculizumab, gefurulimab, and zilucoplan effectively blocking complement activation and reducing inflammatory responses in various disease contexts 123.

Sources cited
1
C5 cleavage by convertases generates C5a and C5b fragments, with C5a binding to receptors and triggering inflammatory responses
PMID: 38142486
2
C5 cleavage leads to MAC formation and zilucoplan inhibits C5 activation through dual mechanisms
PMID: 37622108
3
Heme induces complement activation via alternative pathway and C5 inhibition reduces thromboinflammation
PMID: 31413105
4
Human skin mast cells express and produce C5 protein
PMID: 23833239
5
C5 is essential for IL-8 release and phagocytosis in bacterial defense against Gram-positive bacteria
PMID: 32083344
Disease Associationsβ“˜21
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.75Strong
paroxysmal nocturnal hemoglobinuriaOpen Targets
0.61Moderate
Myasthenia gravisOpen Targets
0.57Moderate
atypical hemolytic-uremic syndromeOpen Targets
0.54Moderate
neuromyelitis opticaOpen Targets
0.51Moderate
hemolytic-uremic syndromeOpen Targets
0.50Moderate
complement deficiencyOpen Targets
0.47Moderate
age-related macular degenerationOpen Targets
0.42Moderate
Protein-losing enteropathyOpen Targets
0.42Moderate
coronary artery diseaseOpen Targets
0.41Moderate
atrophic macular degenerationOpen Targets
0.40Moderate
thrombotic microangiopathyOpen Targets
0.39Weak
hemolysisOpen Targets
0.38Weak
adult acute respiratory distress syndromeOpen Targets
0.37Weak
immunodeficiency due to a late component of complement deficiencyOpen Targets
0.37Weak
lathosterolosisOpen Targets
0.34Weak
Guillain-Barre syndromeOpen Targets
0.33Weak
bullous pemphigoidOpen Targets
0.33Weak
IGA glomerulonephritisOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.27Weak
Complement component 5 deficiencyUniProt
Pathogenic Variants54
NM_001735.3(C5):c.55C>T (p.Gln19Ter)Pathogenic
Complement component 5 deficiency|not provided|Complement component 5 deficiency;Eculizumab, poor response to|C5-related disorder|Lathosterolosis
β˜…β˜…β˜†β˜†2026β†’ Residue 19
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter)Pathogenic
Complement component 5 deficiency|not provided|Eculizumab, poor response to;Complement component 5 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 1476
NM_001735.3(C5):c.4679-2A>GLikely pathogenic
not provided|Complement component 5 deficiency;Eculizumab, poor response to
β˜…β˜…β˜†β˜†2025
NM_001735.3(C5):c.1407G>A (p.Trp469Ter)Pathogenic
not provided|Eculizumab, poor response to;Complement component 5 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 469
NM_001735.3(C5):c.2257+1G>ALikely pathogenic
not provided|Complement component 5 deficiency;Eculizumab, poor response to
β˜…β˜…β˜†β˜†2022
NM_001735.3(C5):c.4589-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_001735.3(C5):c.966C>A (p.Tyr322Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 322
NM_001735.3(C5):c.2782C>T (p.Arg928Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 928
NM_001735.3(C5):c.1990G>T (p.Glu664Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 664
NM_001735.3(C5):c.3486+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001735.3(C5):c.4309G>T (p.Glu1437Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1437
NM_001735.3(C5):c.555del (p.Pro186fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 186
NM_001735.3(C5):c.892C>T (p.Gln298Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 298
NM_001735.3(C5):c.3059_3060del (p.Tyr1020fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1020
NM_001735.3(C5):c.2059+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001735.3(C5):c.1506+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001735.3(C5):c.4168del (p.His1390fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1390
NM_001735.3(C5):c.2255dup (p.His753fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 753
NM_001735.3(C5):c.4183G>T (p.Gly1395Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1395
NM_001735.3(C5):c.1000+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Drug Targets13
AVACINCAPTAD PEGOL SODIUMApproved
Complement C5 inhibitor
atrophic macular degeneration
CEMDISIRANPhase III
Complement C5 mRNA RNAi inhibitor
Myasthenia gravis
CROVALIMABApproved
Complement C5 inhibitor
ECULIZUMABApproved
Complement C5 inhibitor
hemolysis
NOMACOPANPhase III
Complement C5 inhibitor
bullous pemphigoid
OLENDALIZUMABPhase II
Complement C5 inhibitor
PEXELIZUMABPhase III
Complement C5 inhibitor
cardiovascular disease
POZELIMABApproved
Complement C5 inhibitor
RAVULIZUMABApproved
Complement C5 inhibitor
hemolytic-uremic syndrome
TESIDOLUMABPhase II
Complement C5 binding agent
macular degeneration
VILOBELIMABApproved
Complement C5 inhibitor
ZILUCOPLANApproved
Complement C5 inhibitor
ZILUCOPLAN SODIUMApproved
Complement C5 binding agent
Myasthenia gravis
Related Genes
C8AProtein interaction100%C5AR1Protein interaction100%C6Protein interaction100%C9Protein interaction100%C7Protein interaction100%C8GProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
2%
Ovary
2%
Brain
2%
Lung
1%
Heart
0%
Gene Interaction Network
Click a node to explore
C5C8AC5AR1C6C9C7C8G
PROTEIN STRUCTURE
Preparing viewer…
PDB5B71 Β· 2.11 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.54–0.78]
RankingsWhere C5 stands among ~20K protein-coding genes
  • #1,125of 20,598
    Most Researched306 Β· top 10%
  • #188of 1,025
    FDA-Approved Drug Targets8 Β· top quartile
  • #1,254of 5,498
    Most Pathogenic Variants54 Β· top quartile
  • #6,372of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedC5
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Molecular architecture of the human TRPC1/C5 heteromeric channel.
PMID: 41372144
Nat Commun Β· 2025
1.00
2
Characterization of the bispecific VHH antibody gefurulimab (ALXN1720) targeting complement component 5, and designed for low volume subcutaneous administration.
PMID: 38142486
Mol Immunol Β· 2024
0.90
3
Structural insights into the interaction between adenovirus C5 hexon and human lactoferrin.
PMID: 38323814
J Virol Β· 2024
0.80
4
The evolutionary analysis of complement component C5 and the gene co-expression network and putative interaction between C5a and C5a anaphylatoxin receptor (C5AR/CD88) in human and two Cyprinid fish.
PMID: 33290783
Dev Comp Immunol Β· 2021
0.72
5
Complement Component C5 and TLR Molecule CD14 Mediate Heme-Induced Thromboinflammation in Human Blood.
PMID: 31413105
J Immunol Β· 2019
0.70