CD6
CD6 molecule
Summary
This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145709703 | 11:60,739,394 | C/T | — | benign |
| rs61899202 | 11:60,741,151 | G/A | intron variant | — |
| rs556537610 | 11:60,745,750 | C/A | — | — |
| rs72922405 | 11:60,749,458 | A/T | downstream gene variant | — |
| rs12288280 | 11:60,756,356 | G/A | — | — |
| rs185796019 | 11:60,757,590 | C/G | upstream gene variant | — |
| rs17824933 | 11:60,760,612 | C/G | regulatory region variant | — |
| rs929230 | 11:60,760,971 | G/A | intron variant | — |
| rs186374545 | 11:60,763,727 | G/A | intron variant | — |
| rs180978302 | 11:60,764,120 | G/T | intron variant | — |
| rs76704404 | 11:60,764,995 | A/T | intron variant | — |
| rs117181614 | 11:60,771,897 | T/C | regulatory region variant | — |
| rs766424297 | 11:60,774,061 | C/A | — | uncertain significance |
| rs2539288895 | 11:60,774,100 | A/T | — | uncertain significance |
| rs756455957 | 11:60,775,142 | C/A | — | uncertain significance |
| rs139918339 | 11:60,775,227 | C/T | — | uncertain significance |
| rs576602370 | 11:60,775,229 | C/G | — | uncertain significance |
| rs1024399865 | 11:60,775,274 | C/G | — | uncertain significance |
| rs2539301482 | 11:60,776,018 | T/G | — | uncertain significance |
| rs762653723 | 11:60,776,032 | G/C | — | uncertain significance |
| rs61899223 | 11:60,776,103 | T/C | — | benign |
| rs773872697 | 11:60,776,170 | C/T | — | uncertain significance |
| rs11230562 | 11:60,776,186 | C/T | — | benign |
| rs11230563 | 11:60,776,209 | C/G | missense variant | benign |
| rs2074225 | 11:60,776,306 | C/T | missense variant | benign |
| rs79848107 | 11:60,776,307 | G/C | — | benign |
| rs2539307125 | 11:60,777,048 | C/A | — | uncertain significance |
| rs12360861 | 11:60,777,073 | G/A | missense variant | benign |
| rs139338843 | 11:60,777,194 | C/A | — | uncertain significance |
| rs2539308209 | 11:60,777,205 | C/A | — | uncertain significance |
| rs779299811 | 11:60,777,209 | A/G | — | uncertain significance |
| rs2539308435 | 11:60,777,239 | T/C | — | uncertain significance |
| rs1859058257 | 11:60,777,245 | A/T | — | uncertain significance |
| rs752057899 | 11:60,778,577 | G/A | — | uncertain significance |
| rs143516194 | 11:60,779,832 | C/T | intron variant | — |
| rs11230566 | 11:60,780,007 | G/A | intron variant | — |
| rs751038603 | 11:60,780,944 | G/A | — | uncertain significance |
| rs200814552 | 11:60,780,963 | G/C | — | uncertain significance |
| rs2539324975 | 11:60,780,970 | G/T | — | uncertain significance |
| rs1859253738 | 11:60,781,031 | A/T | — | uncertain significance |
| rs567700137 | 11:60,781,398 | C/T | — | likely benign |
| rs146783809 | 11:60,781,436 | C/T | — | uncertain significance |
| rs376880399 | 11:60,781,461 | G/A | — | likely benign |
| rs1859368364 | 11:60,783,209 | A/G | — | uncertain significance |
| rs746469711 | 11:60,783,223 | G/A | — | uncertain significance |
| rs754489367 | 11:60,784,959 | C/T | — | uncertain significance |
| rs753231088 | 11:60,784,960 | G/A | — | uncertain significance |
| rs116662669 | 11:60,785,223 | T/C | — | benign |
| rs781334224 | 11:60,785,321 | C/A | — | uncertain significance |
| rs143534135 | 11:60,785,339 | C/T | — | uncertain significance |
| rs1050922 | 11:60,785,352 | A/G | — | benign |
| rs767057305 | 11:60,785,354 | G/A | — | uncertain significance |
| rs12417503 | 11:60,785,463 | C/T | — | benign |
| rs2074233 | 11:60,785,464 | G/A | — | benign |
| rs2539344922 | 11:60,785,466 | C/G | — | likely benign |
| rs2539344982 | 11:60,785,470 | C/A | — | uncertain significance |
| rs140201536 | 11:60,785,482 | T/C | — | likely benign |
| rs775962443 | 11:60,785,764 | G/A | — | uncertain significance |
| rs1426931924 | 11:60,785,766 | C/A | — | uncertain significance |
| rs111507268 | 11:60,785,798 | C/G | — | benign |
| rs147448427 | 11:60,785,843 | G/A | synonymous variant | — |
| rs200741169 | 11:60,785,862 | C/G | — | uncertain significance |
| rs139907587 | 11:60,786,289 | C/T | intron variant | — |
| rs202123482 | 11:60,786,754 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.