TNFRSF8
TNF receptor superfamily member 8
Summary
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115756167 | 1:12,123,340 | G/A | regulatory region variant | — |
| rs144139197 | 1:12,132,506 | G/A | intron variant | — |
| rs371472066 | 1:12,157,241 | G/A | — | uncertain significance |
| rs193921033 | 1:12,164,438 | G/T | — | uncertain significance |
| rs11569851 | 1:12,164,494 | A/G | — | benign |
| rs764000451 | 1:12,164,522 | G/T | — | uncertain significance |
| rs780645232 | 1:12,169,659 | C/T | — | uncertain significance |
| rs141348765 | 1:12,169,689 | C/T | — | uncertain significance |
| rs774218959 | 1:12,170,127 | C/T | — | likely benign |
| rs947574120 | 1:12,170,220 | C/T | — | uncertain significance |
| rs757994224 | 1:12,171,964 | C/G | — | uncertain significance |
| rs536842664 | 1:12,172,031 | C/A | — | uncertain significance |
| rs377149878 | 1:12,172,032 | G/A | — | uncertain significance |
| rs754880340 | 1:12,172,042 | G/A | — | uncertain significance |
| rs765120662 | 1:12,172,048 | C/T | — | uncertain significance |
| rs2230623 | 1:12,172,049 | G/A | — | benign |
| rs141023619 | 1:12,172,056 | G/A | — | uncertain significance |
| rs1201868307 | 1:12,175,649 | A/C | — | uncertain significance |
| rs778203361 | 1:12,175,652 | C/T | — | uncertain significance |
| rs114975232 | 1:12,175,653 | G/A | — | benign |
| rs140175552 | 1:12,175,675 | C/T | — | uncertain significance |
| rs199906292 | 1:12,175,684 | G/A | — | uncertain significance |
| rs767032588 | 1:12,175,691 | G/A | — | uncertain significance |
| rs201412076 | 1:12,175,694 | C/T | — | uncertain significance |
| rs533782066 | 1:12,175,704 | C/G | — | uncertain significance |
| rs2523439987 | 1:12,175,720 | A/G | — | uncertain significance |
| rs1265152080 | 1:12,175,736 | G/A | — | uncertain significance |
| rs745885297 | 1:12,175,753 | A/G | — | uncertain significance |
| rs11569904 | 1:12,183,372 | G/A | — | benign |
| rs569403836 | 1:12,183,376 | C/A | — | uncertain significance |
| rs777521542 | 1:12,183,392 | C/A | — | uncertain significance |
| rs138595447 | 1:12,183,774 | C/T | — | uncertain significance |
| rs770137068 | 1:12,186,047 | T/C | — | uncertain significance |
| rs548102737 | 1:12,186,098 | G/A | — | likely benign |
| rs201255682 | 1:12,186,232 | C/T | — | likely benign |
| rs11569933 | 1:12,195,661 | G/A | — | benign |
| rs750889572 | 1:12,198,301 | G/A | — | likely benign |
| rs139117240 | 1:12,198,323 | C/T | — | uncertain significance |
| rs376583542 | 1:12,198,373 | G/A | — | uncertain significance |
| rs200000230 | 1:12,198,419 | C/T | — | uncertain significance |
| rs142641214 | 1:12,198,420 | G/T | — | likely benign |
| rs751252054 | 1:12,198,456 | G/C | — | uncertain significance |
| rs201106415 | 1:12,202,404 | C/A | — | uncertain significance |
| rs760704087 | 1:12,202,422 | C/T | — | likely benign |
| rs1195472393 | 1:12,202,439 | G/A | — | uncertain significance |
| rs138958040 | 1:12,202,461 | C/T | — | likely benign |
| rs2523540228 | 1:12,202,526 | A/T | — | uncertain significance |
| rs988901507 | 1:12,202,541 | G/A | — | uncertain significance |
| rs149429293 | 1:12,202,555 | A/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.