C8G
complement C8 gamma chain
Summary
The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28578007 | 9:139,838,690 | T/C | regulatory region variant | — |
| rs375975691 | 9:139,839,825 | C/T | — | uncertain significance |
| rs550971839 | 9:139,839,826 | G/A | — | likely benign |
| rs767045118 | 9:139,839,832 | C/A | — | likely benign |
| rs148013051 | 9:139,839,847 | G/T | — | uncertain significance |
| rs758133626 | 9:139,839,854 | C/T | — | uncertain significance |
| rs376788659 | 9:139,840,113 | G/T | — | uncertain significance |
| rs765302950 | 9:139,840,151 | C/A | — | uncertain significance |
| rs752640173 | 9:139,840,152 | C/T | — | uncertain significance |
| rs17614 | 9:139,840,153 | G/A | — | benign |
| rs756357904 | 9:139,840,157 | C/T | — | likely benign |
| rs368418975 | 9:139,840,371 | G/A | — | likely benign |
| rs149516883 | 9:139,840,378 | C/T | — | likely benign |
| rs1418449880 | 9:139,840,409 | C/G | — | uncertain significance |
| rs7862602 | 9:139,840,471 | G/A | — | — |
| rs570588605 | 9:139,840,540 | G/A | — | uncertain significance |
| rs2491362822 | 9:139,840,582 | A/T | — | uncertain significance |
| rs41306734 | 9:139,840,643 | C/T | — | likely benign |
| rs1486354585 | 9:139,840,924 | G/A | — | likely benign |
| rs373466029 | 9:139,840,937 | G/A | — | uncertain significance |
| rs369164564 | 9:139,840,952 | G/A | — | uncertain significance |
| rs138632480 | 9:139,841,003 | T/C | — | uncertain significance |
| rs769430206 | 9:139,841,010 | C/T | — | uncertain significance |
| rs78405347 | 9:139,841,017 | C/T | — | benign |
| rs150744928 | 9:139,841,132 | G/A | — | likely benign |
| rs41309980 | 9:139,841,212 | T/C | splice region variant | — |
| rs145014779 | 9:139,841,238 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.