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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.
C4B
complement C4B (Chido/Rodgers blood group)
Chromosome 6 Β· 6p21.33
NCBI Gene: 721Ensembl: ENSG00000206340.10HGNC: HGNC:1323UniProt: P0C0L4
215PubMed Papers
22Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
complement bindingcarbohydrate bindingcomplement activationdetection of molecule of bacterial origincomplement component 4a deficiencyimmunodeficiency due to a classical component pathway complement deficiencycomplement deficiencysystemic lupus erythematosus
✦AI Summary

C4B (complement component 4B) is a key component of the classical and lectin complement pathways that functions in immune defense and regulation. C4B differs structurally and functionally from the related C4A protein, with C4B being more efficient in hemolytic assays while C4A preferentially binds immune complexes 1. The two C4 isotypes together form a duplicated system allowing C3 convertase formation on various substrates, which is vital for eliminating invading microorganisms 1. C4B exhibits significant genetic diversity through copy number variations and allotypic differences, with some variants like the fast-migrating B7 allotype containing amino acid variations in the anaphylatoxin-like region 2. Deficiencies in C4B, caused by gene mutations or copy number reductions, are associated with autoimmune diseases including systemic lupus erythematosus 2. Pathogenic bacteria like Leptospira can exploit C4B by recruiting C4b-binding protein (C4BP) to evade complement-mediated clearance through C4b degradation 3. C4BP itself functions as a fluid-phase complement inhibitor that prevents uncontrolled classical pathway activation and has emerging complement-independent roles in cell survival and immune modulation 4. Clinical significance includes C4B's role in autoimmune disease susceptibility and its potential as a therapeutic target for complement-related disorders.

Sources cited
1
C4B is more efficient than C4A in hemolytic assays while C4A preferentially binds immune complexes, forming a duplicated system vital for eliminating microorganisms
PMID: 2650988
2
C4B shows genetic diversity through copy number variations and allotypic differences, with deficiencies associated with autoimmune diseases like systemic lupus erythematosus
PMID: 34764957
3
Pathogenic Leptospira can recruit C4BP to mediate C4b degradation and evade complement-mediated clearance
PMID: 26614523
4
C4BP functions as a fluid-phase complement inhibitor preventing uncontrolled classical pathway activation with emerging complement-independent roles
PMID: 37931209
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
complement component 4a deficiencyOpen Targets
0.64Moderate
immunodeficiency due to a classical component pathway complement deficiencyOpen Targets
0.60Moderate
complement deficiencyOpen Targets
0.46Moderate
systemic lupus erythematosusOpen Targets
0.40Moderate
dengue diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
melanomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
chronic kidney diseaseOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
systemic sclerodermaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
autoimmune diseaseOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
lobular neoplasiaOpen Targets
0.07Suggestive
bone diseaseOpen Targets
0.07Suggestive
Complement component 4B deficiencyUniProt
Systemic lupus erythematosusUniProt
Pathogenic Variants2
NM_001002029.4(C4B):c.3893dup (p.Phe1299fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1299
NM_001002029.4(C4B):c.3676+1G>ALikely pathogenic
Complement component 4b deficiency
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
C5AR1Protein interaction100%CFPProtein interaction100%CR1Protein interaction100%CD46Protein interaction100%CD55Protein interaction100%C1RProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
11%
Heart
3%
Lung
3%
Brain
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
C4BC5AR1CFPCR1CD46CD55C1R
PROTEIN STRUCTURE
Preparing viewer…
PDB6YSQ Β· 3.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.11–0.41]
RankingsWhere C4B stands among ~20K protein-coding genes
  • #1,926of 20,598
    Most Researched215 Β· top 10%
  • #4,238of 5,498
    Most Pathogenic Variants2
  • #2,139of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedC4B
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.
PMID: 34764957
Front Immunol Β· 2021
1.00
2
Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4.
PMID: 11367523
Int Immunopharmacol Β· 2001
0.92
3
The human C4b-binding protein beta-chain gene.
PMID: 8325877
J Biol Chem Β· 1993
0.90
4
Leptospira interrogans Lsa23 protein recruits plasminogen, factor H and C4BP from normal human serum and mediates C3b and C4b degradation.
PMID: 26614523
Microbiology (Reading) Β· 2016
0.80
5
Real-time PCR quantification of human complement C4A and C4B genes.
PMID: 16403222
BMC Genet Β· 2006
0.76