C4BPB
Complement Component 4 Binding Protein Beta
Gene Information Card
| Symbol | C4BPB |
|---|---|
| Full Name | Complement Component 4 Binding Protein Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 725 ncbi.nlm.nih.gov/gene/725 |
| Ensembl ID | ENSG00000123843 |
| UniProt ID | P20851 |
| OMIM ID | 120830 |
| HGNC ID | 1326 |
| Aliases | C4BP, C4b-binding protein beta chain |
Description
C4BPB encodes the beta chain of C4b-binding protein (C4BP), a multimeric protein that regulates the classical complement pathway by binding to complement component C4b and accelerating its degradation. The beta chain is essential for the formation of the C4BP complex and for its interaction with protein S, linking complement regulation to coagulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Complement deficiency | Loss of C4BP function leads to uncontrolled complement activation and increased susceptibility to infections | ClinVar |
| Systemic lupus erythematosus (SLE) | C4BP deficiency may impair clearance of immune complexes, contributing to SLE pathogenesis | OMIM |
| Thrombophilia | C4BP binds protein S; altered C4BP levels can affect protein S anticoagulant activity | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Plasma | 8.2 | Medium |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| HEK293 | 4.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function |
| c.214C>T | nonsense | <0.01% | Premature stop codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that disrupt C4BPB protein structure or C4b binding
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • complement activation | • classical pathway |
| • C4b binding | • protein binding |
| • extracellular region |
Pathways
• Complement cascade (Reactome: R-HSA-166658)
• Regulation of complement cascade (KEGG: hsa04610)
Protein Summary
C4BPB encodes the beta chain of C4b-binding protein, a 45 kDa glycoprotein that forms a disulfide-linked multimer with the alpha chain. The beta chain contains a binding site for protein S, linking complement regulation to the coagulation system. It is primarily expressed in the liver and secreted into plasma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C4BPB Knockout HEK293 Cell Line | EDJ-KQ4158 | Human | 725 | Details Get a Quote |
| C4BPB Knockout A-549 Cell Line | EDJ-KQ26598 | Human | 725 | Details Get a Quote |
| C4BPB Knockout HeLa Cell Line | EDJ-KQ26599 | Human | 725 | Details Get a Quote |
| C4BPB Knockout HCT 116 Cell Line | EDJ-KQ69713 | Human | 725 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
