C4BPB
complement component 4 binding protein beta
Summary
This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751515179 | 1:207,262,905 | T/C | — | uncertain significance |
| rs146846149 | 1:207,262,911 | C/T | — | likely benign |
| rs1372665725 | 1:207,262,932 | A/G | — | uncertain significance |
| rs12711513 | 1:207,262,980 | G/T | — | benign |
| rs11120184 | 1:207,263,539 | C/T | — | benign |
| rs148205272 | 1:207,263,660 | C/T | — | benign |
| rs56073690 | 1:207,263,699 | C/T | — | benign |
| rs369678665 | 1:207,263,736 | G/C | — | likely benign |
| rs771573856 | 1:207,263,823 | C/T | — | uncertain significance |
| rs6690037 | 1:207,263,829 | A/G | — | benign |
| rs754303721 | 1:207,265,067 | C/T | — | uncertain significance |
| rs142909654 | 1:207,265,108 | C/T | — | likely benign |
| rs79443414 | 1:207,265,173 | C/A | — | likely benign |
| rs56114005 | 1:207,265,430 | G/A | — | benign |
| rs56054349 | 1:207,269,855 | C/T | — | benign |
| rs3813948 | 1:207,269,858 | T/C | intron variant | benign |
| rs8942 | 1:207,269,919 | C/T | — | benign |
| rs144498332 | 1:207,271,511 | G/A | — | likely benign |
| rs780272526 | 1:207,271,573 | C/T | — | likely benign |
| rs1264322437 | 1:207,271,576 | G/C | — | uncertain significance |
| rs148116019 | 1:207,271,587 | A/C | — | uncertain significance |
| rs78667607 | 1:207,271,862 | T/G | — | benign |
| rs768517505 | 1:207,273,174 | A/C | — | uncertain significance |
| rs1684397101 | 1:207,273,181 | T/G | — | uncertain significance |
| rs1419982848 | 1:207,273,206 | A/G | — | uncertain significance |
| rs112457805 | 1:207,273,425 | G/A | — | benign |
| rs5008096 | 1:207,273,435 | G/A | — | benign |
| rs55704964 | 1:207,273,492 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.