TNFSF10
TNF superfamily member 10
Summary
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1131580 | 3:172,223,620 | A/T | — | — |
| rs1131535 | 3:172,224,075 | C/T | — | benign |
| rs1131532 | 3:172,224,303 | A/G | synonymous variant | benign |
| rs375691537 | 3:172,224,370 | T/C | — | uncertain significance |
| rs145496528 | 3:172,224,402 | G/C | — | uncertain significance |
| rs376937785 | 3:172,224,519 | G/T | — | uncertain significance |
| rs553535563 | 3:172,224,563 | A/C | — | uncertain significance |
| rs771887188 | 3:172,224,595 | T/C | — | uncertain significance |
| rs572117015 | 3:172,224,672 | G/C | — | uncertain significance |
| rs910390567 | 3:172,224,694 | T/G | — | uncertain significance |
| rs2473606477 | 3:172,227,081 | C/G | — | uncertain significance |
| rs3815496 | 3:172,227,199 | C/T | — | benign |
| rs2473609502 | 3:172,229,413 | C/T | — | uncertain significance |
| rs1291288240 | 3:172,232,660 | G/A | — | likely benign |
| rs1413966286 | 3:172,232,772 | G/A | — | uncertain significance |
| rs231983 | 3:172,236,440 | G/T | — | benign |
| rs2270417 | 3:172,240,605 | C/G | downstream gene variant | — |
| rs2270418 | 3:172,240,999 | T/G | — | benign |
| rs41308132 | 3:172,241,070 | G/A | — | benign |
| rs6763816 | 3:172,241,078 | C/T | — | benign |
| rs202163509 | 3:172,241,093 | A/T | — | uncertain significance |
| rs138912628 | 3:172,241,149 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.