TNFSF9
TNF superfamily member 9
Summary
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764756760 | 19:6,531,057 | G/A | — | uncertain significance |
| rs752027230 | 19:6,531,063 | G/A | — | uncertain significance |
| rs767006317 | 19:6,531,123 | G/C | — | likely benign |
| rs2234174 | 19:6,531,171 | G/A | — | benign |
| rs1568419856 | 19:6,531,201 | C/T | — | uncertain significance |
| rs1024300150 | 19:6,531,241 | C/G | — | uncertain significance |
| rs140032775 | 19:6,534,643 | A/G | — | uncertain significance |
| rs1003266757 | 19:6,534,674 | C/T | — | uncertain significance |
| rs61750000 | 19:6,534,728 | G/C | — | likely benign |
| rs1599430264 | 19:6,534,731 | T/G | — | uncertain significance |
| rs1340124815 | 19:6,534,916 | C/G | — | uncertain significance |
| rs201304601 | 19:6,534,937 | G/A | — | uncertain significance |
| rs201036031 | 19:6,534,985 | G/A | — | uncertain significance |
| rs1568421049 | 19:6,535,004 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.