TNFRSF1B
TNF receptor superfamily member 1B
Summary
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs652625 | 1:12,225,351 | T/A | upstream gene variant | — |
| rs976881 | 1:12,233,754 | T/C | regulatory region variant | — |
| rs519064 | 1:12,242,096 | C/T | intron variant | — |
| rs76769120 | 1:12,243,825 | G/T | intron variant | — |
| rs1420687244 | 1:12,248,854 | T/C | — | uncertain significance |
| rs1262753688 | 1:12,248,912 | T/C | — | likely benign |
| rs5746011 | 1:12,250,004 | T/C | regulatory region variant | — |
| rs5746017 | 1:12,251,341 | A/C | regulatory region variant | — |
| rs756427248 | 1:12,252,527 | C/G | — | uncertain significance |
| rs2275415 | 1:12,252,573 | C/T | — | benign |
| rs2228494 | 1:12,252,927 | G/A | — | benign |
| rs1061622 | 1:12,252,955 | T/G | missense variant | uncertain significance |
| rs1035218772 | 1:12,252,970 | C/G | — | uncertain significance |
| rs199873050 | 1:12,252,976 | C/T | — | benign |
| rs2523675742 | 1:12,253,038 | T/C | — | uncertain significance |
| rs1639183799 | 1:12,253,066 | C/A | — | uncertain significance |
| rs146983380 | 1:12,253,136 | C/T | — | likely benign |
| rs551866527 | 1:12,253,162 | C/A | — | likely benign |
| rs2229700 | 1:12,254,015 | T/C | — | benign |
| rs199931640 | 1:12,262,042 | A/G | — | benign |
| rs534114957 | 1:12,262,048 | C/T | — | uncertain significance |
| rs2523712493 | 1:12,262,078 | C/G | — | uncertain significance |
| rs201872077 | 1:12,262,095 | G/C | — | likely benign |
| rs1639406742 | 1:12,262,164 | G/C | — | uncertain significance |
| rs748261132 | 1:12,262,185 | G/C | — | uncertain significance |
| rs971404233 | 1:12,262,207 | C/T | — | uncertain significance |
| rs5746059 | 1:12,262,792 | A/T | — | — |
| rs2523732271 | 1:12,266,974 | G/A | — | uncertain significance |
| rs1389681397 | 1:12,266,994 | G/A | — | uncertain significance |
| rs1061624 | 1:12,267,265 | A/T | — | — |
| rs3397 | 1:12,267,292 | C/T | 3 prime UTR variant | uncertain significance |
| rs1061631 | 1:12,268,499 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.