C4B
complement C4B (Chido/Rodgers blood group)
Summary
This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs71253783 | 6:31,980,773 | A/G | — | — |
| rs4959021 | 6:31,981,146 | T/G | — | — |
| rs139889867 | 6:31,984,918 | C/A | — | conflicting classifications of pathogenicity |
| rs200283861 | 6:31,994,723 | G/C | — | — |
| rs1775641442 | 6:31,994,772 | C/G | — | uncertain significance |
| rs451637 | 6:31,994,782 | C/T | synonymous variant | — |
| rs374713901 | 6:31,994,789 | C/T | — | conflicting classifications of pathogenicity |
| rs541763034 | 6:31,994,809 | C/G | — | uncertain significance |
| rs1205692757 | 6:31,994,810 | C/G | — | uncertain significance |
| rs1233787148 | 6:31,994,820 | G/A | — | uncertain significance |
| rs1258461979 | 6:31,994,828 | A/G | — | likely benign |
| rs770516897 | 6:31,994,862 | G/A | — | uncertain significance |
| rs758340408 | 6:31,995,109 | G/C | — | uncertain significance |
| rs796750528 | 6:31,995,139 | A/G | — | likely benign |
| rs1775670727 | 6:31,995,146 | T/C | — | uncertain significance |
| rs202120998 | 6:31,995,167 | G/A | — | uncertain significance |
| rs146924464 | 6:31,995,320 | A/G | — | — |
| rs449186 | 6:31,995,408 | C/T | — | — |
| rs369928228 | 6:31,996,279 | C/T | — | uncertain significance |
| rs406658 | 6:31,996,524 | C/A | — | benign |
| rs373921185 | 6:31,996,543 | G/A | — | uncertain significance |
| rs781626894 | 6:31,996,773 | A/G | — | conflicting classifications of pathogenicity |
| rs756439916 | 6:31,996,776 | G/A | — | uncertain significance |
| rs2746414 | 6:31,996,966 | G/A | — | benign |
| rs2483291022 | 6:31,996,998 | C/T | — | uncertain significance |
| rs377113131 | 6:31,997,073 | G/A | — | uncertain significance |
| rs771378213 | 6:31,997,116 | G/A | — | likely pathogenic |
| rs59174894 | 6:31,997,129 | G/T | — | — |
| rs746665484 | 6:31,997,400 | C/T | — | likely benign |
| rs745332853 | 6:31,997,408 | C/T | — | uncertain significance |
| rs774789916 | 6:31,997,441 | G/A | — | uncertain significance |
| rs574457656 | 6:31,997,537 | C/T | — | uncertain significance |
| rs2483295309 | 6:31,997,541 | A/G | — | uncertain significance |
| rs751412917 | 6:31,997,564 | C/T | — | uncertain significance |
| rs1229777462 | 6:31,997,565 | G/A | — | uncertain significance |
| rs998024443 | 6:31,997,775 | G/A | — | uncertain significance |
| rs1288585352 | 6:31,997,793 | C/T | — | uncertain significance |
| rs1435006597 | 6:31,997,802 | C/A | — | uncertain significance |
| rs1199649021 | 6:31,997,803 | G/T | — | uncertain significance |
| rs564120245 | 6:31,997,909 | C/G | — | — |
| rs2854855 | 6:32,002,158 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.