C5
complement C5
Summary
This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Known Variants626 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140229894 | 9:123,715,017 | T/C | — | likely benign |
| rs1588160981 | 9:123,715,024 | C/T | — | uncertain significance |
| rs143531056 | 9:123,715,031 | A/G | — | likely benign |
| rs374914766 | 9:123,715,037 | T/C | — | uncertain significance |
| rs758052311 | 9:123,715,043 | C/T | — | uncertain significance |
| rs1388509876 | 9:123,715,044 | G/A | — | likely benign |
| rs750465028 | 9:123,715,052 | C/T | — | uncertain significance |
| rs2046754353 | 9:123,715,063 | G/A | — | uncertain significance |
| rs779625570 | 9:123,715,080 | C/T | — | likely benign |
| rs145613662 | 9:123,715,099 | C/T | — | uncertain significance |
| rs2131656978 | 9:123,715,116 | C/G | — | uncertain significance |
| rs762245967 | 9:123,715,124 | A/C | — | uncertain significance |
| rs369355126 | 9:123,715,131 | T/C | — | likely benign |
| rs1399599410 | 9:123,715,134 | A/G | — | likely benign |
| rs371917232 | 9:123,715,136 | G/A | — | uncertain significance |
| rs963102358 | 9:123,715,151 | C/T | — | uncertain significance |
| rs2540366376 | 9:123,715,158 | C/T | — | likely benign |
| rs770261017 | 9:123,715,988 | G/A | — | likely benign |
| rs376359892 | 9:123,715,989 | A/C | — | likely benign |
| rs149090883 | 9:123,715,995 | A/G | — | likely benign |
| rs2540367242 | 9:123,716,001 | G/T | — | likely benign |
| rs149147126 | 9:123,716,010 | G/A | — | likely benign |
| rs2131658684 | 9:123,716,079 | C/T | — | likely benign |
| rs2540367412 | 9:123,716,083 | G/T | — | uncertain significance |
| rs762688981 | 9:123,716,085 | G/T | — | uncertain significance |
| rs41258306 | 9:123,716,103 | T/C | — | benign |
| rs757951662 | 9:123,716,110 | A/G | — | uncertain significance |
| rs79033710 | 9:123,716,124 | G/A | — | likely benign |
| rs2540367527 | 9:123,716,138 | C/T | — | uncertain significance |
| rs1277598724 | 9:123,716,151 | G/C | — | uncertain significance |
| rs2540367574 | 9:123,716,156 | A/G | — | uncertain significance |
| rs41313635 | 9:123,716,157 | T/C | — | likely benign |
| rs745886311 | 9:123,716,158 | G/A | — | likely benign |
| rs772165427 | 9:123,716,159 | C/G | — | likely benign |
| rs2300929 | 9:123,716,840 | T/C | intron variant | — |
| rs757661535 | 9:123,719,543 | A/G | — | likely benign |
| rs1213709001 | 9:123,719,544 | T/A | — | likely benign |
| rs369070128 | 9:123,719,548 | C/T | — | likely benign |
| rs372929361 | 9:123,719,549 | G/A | — | likely benign |
| rs2540370263 | 9:123,719,580 | A/G | — | uncertain significance |
| rs1387994187 | 9:123,719,611 | T/C | — | uncertain significance |
| rs141660654 | 9:123,719,612 | T/C | — | likely benign |
| rs1290836419 | 9:123,719,614 | C/T | — | uncertain significance |
| rs1472836871 | 9:123,719,615 | T/C | — | likely benign |
| rs768542181 | 9:123,719,618 | A/C | — | likely benign |
| rs761788277 | 9:123,719,620 | T/C | — | uncertain significance |
| rs2131663042 | 9:123,719,628 | G/A | — | uncertain significance |
| rs375352964 | 9:123,719,632 | T/C | — | uncertain significance |
| rs2046793859 | 9:123,719,634 | C/T | — | uncertain significance |
| rs918777427 | 9:123,719,641 | T/C | — | uncertain significance |
| rs191466386 | 9:123,719,648 | T/C | — | likely pathogenic |
| rs762663410 | 9:123,722,506 | T/C | — | likely benign |
| rs2540372969 | 9:123,722,509 | T/C | — | likely benign |
| rs2131666309 | 9:123,722,513 | C/T | — | likely benign |
| rs1174188002 | 9:123,722,528 | T/C | — | uncertain significance |
| rs774166079 | 9:123,722,531 | G/T | — | uncertain significance |
| rs1307833178 | 9:123,722,536 | C/A | — | uncertain significance |
| rs201704886 | 9:123,722,537 | T/C | — | uncertain significance |
| rs2540373017 | 9:123,722,548 | T/C | — | likely benign |
| rs147051026 | 9:123,722,550 | C/T | — | uncertain significance |
| rs138510251 | 9:123,722,552 | G/A | — | uncertain significance |
| rs758713555 | 9:123,722,563 | T/A | — | likely benign |
| rs548496434 | 9:123,722,589 | A/G | — | likely benign |
| rs1433628456 | 9:123,722,615 | G/C | — | uncertain significance |
| rs2046818030 | 9:123,722,633 | T/C | — | likely benign |
| rs529659789 | 9:123,723,754 | G/A | — | uncertain significance |
| rs542182447 | 9:123,723,762 | T/G | — | uncertain significance |
| rs1235056478 | 9:123,723,766 | C/A | — | uncertain significance |
| rs2540374484 | 9:123,723,773 | G/A | — | uncertain significance |
| rs1027829831 | 9:123,723,776 | C/T | — | likely benign |
| rs150280452 | 9:123,723,778 | C/T | — | conflicting classifications of pathogenicity |
| rs778838090 | 9:123,723,779 | G/A | — | likely benign |
| rs2046827149 | 9:123,723,780 | G/C | — | uncertain significance |
| rs2046827170 | 9:123,723,789 | C/T | — | uncertain significance |
| rs1588165191 | 9:123,723,793 | C/G | — | uncertain significance |
| rs745670770 | 9:123,723,794 | T/C | — | likely benign |
| rs758205218 | 9:123,723,810 | T/C | — | uncertain significance |
| rs1361402451 | 9:123,723,824 | A/G | — | likely benign |
| rs376452901 | 9:123,723,833 | A/G | — | likely benign |
| rs202069815 | 9:123,723,850 | C/T | — | likely benign |
| rs2540374708 | 9:123,723,855 | A/G | — | likely benign |
| rs375227918 | 9:123,724,935 | A/G | — | likely benign |
| rs137867011 | 9:123,724,945 | T/C | — | uncertain significance |
| rs1564131885 | 9:123,724,947 | A/T | — | likely pathogenic |
| rs2131669492 | 9:123,724,951 | G/A | — | uncertain significance |
| rs376245744 | 9:123,724,964 | C/T | — | uncertain significance |
| rs370935824 | 9:123,724,965 | G/A | — | likely benign |
| rs373515982 | 9:123,724,983 | A/G | — | likely benign |
| rs1032063037 | 9:123,725,001 | T/C | — | likely benign |
| rs775939939 | 9:123,725,020 | C/T | — | uncertain significance |
| rs138933092 | 9:123,725,021 | G/A | — | uncertain significance |
| rs121909588 | 9:123,725,027 | G/A | stop gained | pathogenic |
| rs1426471331 | 9:123,725,158 | A/C | — | likely benign |
| rs780707722 | 9:123,725,171 | C/T | — | conflicting classifications of pathogenicity |
| rs965313093 | 9:123,725,172 | G/A | — | uncertain significance |
| rs746367534 | 9:123,725,180 | T/C | — | likely benign |
| rs772690228 | 9:123,725,184 | A/G | — | uncertain significance |
| rs775658749 | 9:123,725,201 | T/G | — | uncertain significance |
| rs2540376375 | 9:123,725,204 | G/A | — | likely benign |
| rs761105830 | 9:123,725,218 | T/G | — | uncertain significance |
Showing 100 of 626 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.