CD46
CD46 molecule
Summary
The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Known Variants302 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2796267 | 1:207,924,906 | G/A | — | benign |
| rs2796268 | 1:207,925,192 | A/G | — | benign |
| rs41266397 | 1:207,925,361 | C/G | — | benign |
| rs1023894625 | 1:207,925,431 | A/G | — | uncertain significance |
| rs74477032 | 1:207,925,547 | C/A | — | likely benign |
| rs931567100 | 1:207,925,548 | C/T | — | uncertain significance |
| rs886045836 | 1:207,925,552 | C/T | — | uncertain significance |
| rs1335624534 | 1:207,925,567 | C/T | — | uncertain significance |
| rs375671974 | 1:207,925,568 | C/T | — | uncertain significance |
| rs756580433 | 1:207,925,569 | C/T | — | likely benign |
| rs1654986330 | 1:207,925,572 | C/A | — | likely benign |
| rs749796669 | 1:207,925,574 | G/T | — | uncertain significance |
| rs774828839 | 1:207,925,587 | C/G | — | likely benign |
| rs1418106116 | 1:207,925,592 | C/T | — | uncertain significance |
| rs138843816 | 1:207,925,595 | C/T | — | likely benign |
| rs1654993696 | 1:207,925,597 | T/C | — | uncertain significance |
| rs760165779 | 1:207,925,609 | G/A | — | uncertain significance |
| rs1654999489 | 1:207,925,614 | G/T | — | uncertain significance |
| rs2526337508 | 1:207,925,615 | C/T | — | uncertain significance |
| rs1238861656 | 1:207,925,616 | T/C | — | uncertain significance |
| rs2102512211 | 1:207,925,622 | C/A | — | uncertain significance |
| rs765870721 | 1:207,925,625 | C/G | — | uncertain significance |
| rs750342865 | 1:207,925,627 | A/G | — | conflicting classifications of pathogenicity |
| rs1295405623 | 1:207,925,628 | T/C | — | uncertain significance |
| rs765047596 | 1:207,925,629 | G/A | — | uncertain significance |
| rs780260959 | 1:207,925,646 | C/G | — | uncertain significance |
| rs1436490870 | 1:207,925,653 | C/T | — | uncertain significance |
| rs2102512645 | 1:207,925,654 | G/C | — | conflicting classifications of pathogenicity |
| rs1013794072 | 1:207,925,659 | G/T | — | uncertain significance |
| rs779446381 | 1:207,925,661 | C/T | — | likely benign |
| rs1374234242 | 1:207,925,662 | C/T | — | likely benign |
| rs2526339102 | 1:207,925,664 | C/T | — | likely benign |
| rs12067460 | 1:207,930,167 | T/A | — | benign |
| rs2724384 | 1:207,930,203 | G/A | intron variant | benign |
| rs1441937053 | 1:207,930,358 | G/C | — | pathogenic |
| rs1571578126 | 1:207,930,362 | C/T | — | uncertain significance |
| rs121909591 | 1:207,930,365 | G/A | missense variant | pathogenic |
| rs1417333803 | 1:207,930,370 | G/A | — | uncertain significance |
| rs753924720 | 1:207,930,379 | A/G | — | uncertain significance |
| rs1304631027 | 1:207,930,389 | C/T | — | uncertain significance |
| rs564910868 | 1:207,930,391 | A/C | — | conflicting classifications of pathogenicity |
| rs2526399280 | 1:207,930,393 | G/A | — | uncertain significance |
| rs1361437349 | 1:207,930,423 | T/C | — | likely benign |
| rs2526399928 | 1:207,930,427 | A/G | — | uncertain significance |
| rs746663934 | 1:207,930,428 | T/C | — | uncertain significance |
| rs777966042 | 1:207,930,430 | G/A | — | uncertain significance |
| rs121909590 | 1:207,930,436 | C/T | stop gained | pathogenic |
| rs780693519 | 1:207,930,437 | G/A | — | uncertain significance |
| rs1335748754 | 1:207,930,440 | T/C | — | uncertain significance |
| rs2526400470 | 1:207,930,444 | T/A | — | uncertain significance |
| rs745317856 | 1:207,930,446 | A/G | — | uncertain significance |
| rs1655633353 | 1:207,930,452 | G/A | — | uncertain significance |
| rs150429980 | 1:207,930,459 | A/T | — | conflicting classifications of pathogenicity |
| rs1327231777 | 1:207,930,477 | T/G | — | likely benign |
| rs2526401892 | 1:207,930,478 | C/T | — | uncertain significance |
| rs2526401936 | 1:207,930,479 | C/T | — | uncertain significance |
| rs2526402036 | 1:207,930,481 | C/T | — | uncertain significance |
| rs768538372 | 1:207,930,485 | C/T | — | uncertain significance |
| rs2526402172 | 1:207,930,491 | A/G | — | uncertain significance |
| rs2526402294 | 1:207,930,496 | A/G | — | conflicting classifications of pathogenicity |
| rs200133631 | 1:207,930,505 | C/T | — | uncertain significance |
| rs761000846 | 1:207,930,506 | G/A | — | uncertain significance |
| rs1047780483 | 1:207,930,512 | A/T | — | uncertain significance |
| rs201520567 | 1:207,930,516 | A/G | — | likely benign |
| rs2526402741 | 1:207,930,518 | G/A | — | pathogenic |
| rs115385712 | 1:207,930,522 | A/G | — | likely benign |
| rs2526402960 | 1:207,930,529 | T/G | — | uncertain significance |
| rs148383499 | 1:207,930,537 | C/T | — | conflicting classifications of pathogenicity |
| rs547298394 | 1:207,930,538 | G/T | — | uncertain significance |
| rs2526403341 | 1:207,930,539 | C/T | — | uncertain significance |
| rs112089594 | 1:207,930,546 | T/C | — | conflicting classifications of pathogenicity |
| rs1419898630 | 1:207,930,548 | G/C | — | pathogenic |
| rs769742294 | 1:207,930,549 | T/G | — | pathogenic |
| rs1429562916 | 1:207,930,868 | A/G | — | likely benign |
| rs759813089 | 1:207,930,883 | A/G | — | pathogenic |
| rs116800126 | 1:207,930,891 | C/T | — | conflicting classifications of pathogenicity |
| rs1655700581 | 1:207,930,902 | A/G | — | uncertain significance |
| rs1174577031 | 1:207,930,928 | A/G | — | likely benign |
| rs1420887927 | 1:207,930,933 | C/T | — | uncertain significance |
| rs757676022 | 1:207,930,946 | T/G | — | likely benign |
| rs999821608 | 1:207,930,949 | C/T | — | likely benign |
| rs2526411230 | 1:207,930,965 | A/T | — | uncertain significance |
| rs376091114 | 1:207,930,968 | C/T | — | uncertain significance |
| rs554142324 | 1:207,930,973 | T/C | — | likely benign |
| rs2102542129 | 1:207,930,988 | G/A | — | likely pathogenic |
| rs2526411766 | 1:207,931,000 | T/G | — | likely benign |
| rs2466573 | 1:207,931,175 | T/G | — | benign |
| rs778547874 | 1:207,932,965 | C/T | — | likely benign |
| rs2102552392 | 1:207,932,978 | A/G | — | likely benign |
| rs1553250568 | 1:207,932,996 | T/G | — | uncertain significance |
| rs2526436751 | 1:207,933,005 | A/G | — | likely benign |
| rs12126088 | 1:207,933,011 | G/A | — | likely benign |
| rs1655966919 | 1:207,933,012 | T/C | — | uncertain significance |
| rs371106885 | 1:207,933,018 | G/C | — | uncertain significance |
| rs145041158 | 1:207,933,047 | C/T | — | benign |
| rs374175612 | 1:207,933,048 | G/A | — | uncertain significance |
| rs773571315 | 1:207,933,060 | A/G | — | uncertain significance |
| rs2102552865 | 1:207,933,063 | T/C | — | conflicting classifications of pathogenicity |
| rs41317081 | 1:207,933,353 | A/G | — | benign |
| rs2466572 | 1:207,934,487 | A/C | — | benign |
Showing 100 of 302 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.