TNF
tumor necrosis factor
Summary
This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1800750 | 6:31,542,963 | G/A | regulatory region variant | risk factor |
| rs1800629 | 6:31,543,031 | G/A | regulatory region variant | drug response |
| rs56036015 | 6:31,543,064 | A/G | regulatory region variant | — |
| rs673 | 6:31,543,095 | G/A | regulatory region variant | — |
| rs361525 | 6:31,543,101 | G/A | regulatory region variant | uncertain significance |
| rs2150388461 | 6:31,543,535 | T/A | — | uncertain significance |
| rs1471476571 | 6:31,543,557 | C/A | — | likely benign |
| rs2228088 | 6:31,543,605 | G/T | — | benign |
| rs558678940 | 6:31,543,639 | G/T | — | uncertain significance |
| rs1800610 | 6:31,543,827 | G/A | downstream gene variant | — |
| rs3093662 | 6:31,544,189 | A/G | regulatory region variant | — |
| rs4645843 | 6:31,544,562 | C/T | missense variant | likely benign |
| rs3093664 | 6:31,544,642 | A/G | regulatory region variant | — |
| rs758704433 | 6:31,544,932 | G/T | — | uncertain significance |
| rs281865419 | 6:31,544,934 | C/T | missense variant | pathogenic |
| rs774032100 | 6:31,544,962 | T/C | — | uncertain significance |
| rs747751043 | 6:31,544,966 | G/A | — | likely benign |
| rs757398208 | 6:31,545,089 | C/T | — | likely benign |
| rs747910356 | 6:31,545,101 | C/T | — | likely benign |
| rs3093665 | 6:31,545,391 | A/C | downstream gene variant | — |
| rs3093668 | 6:31,546,495 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.