TLR4
toll like receptor 4
Summary
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
Known Variants91 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1927914 | 9:120,464,725 | G/A | upstream gene variant | — |
| rs10759932 | 9:120,465,144 | T/G | — | — |
| rs1005484206 | 9:120,466,756 | G/T | — | uncertain significance |
| rs200829864 | 9:120,466,772 | G/T | — | uncertain significance |
| rs112840323 | 9:120,466,811 | G/A | — | uncertain significance |
| rs141676121 | 9:120,466,814 | A/G | — | uncertain significance |
| rs10818073 | 9:120,467,576 | C/T | regulatory region variant | — |
| rs12344353 | 9:120,468,649 | T/C | downstream gene variant | — |
| rs11536869 | 9:120,469,832 | A/G | downstream gene variant | — |
| rs1927911 | 9:120,470,054 | A/C | — | — |
| rs78848399 | 9:120,470,884 | A/G | — | likely benign |
| rs892362464 | 9:120,470,922 | C/G | — | uncertain significance |
| rs2490687062 | 9:120,470,929 | T/G | — | uncertain significance |
| rs147453131 | 9:120,470,966 | C/G | — | benign |
| rs11536878 | 9:120,471,553 | C/A | upstream gene variant | — |
| rs11536879 | 9:120,472,211 | A/T | — | — |
| rs12377632 | 9:120,472,730 | T/A | — | — |
| rs1927907 | 9:120,472,764 | C/T | upstream gene variant | — |
| rs2770146 | 9:120,473,338 | T/C | upstream gene variant | — |
| rs117343502 | 9:120,473,466 | G/A | upstream gene variant | — |
| rs5030717 | 9:120,473,834 | A/G | upstream gene variant | — |
| rs2149356 | 9:120,474,199 | T/G | upstream gene variant | — |
| rs5030728 | 9:120,474,282 | G/T | — | — |
| rs5030729 | 9:120,474,339 | A/G | upstream gene variant | — |
| rs56302444 | 9:120,474,683 | A/G | — | likely benign |
| rs138924526 | 9:120,474,745 | C/T | — | likely benign |
| rs1829248851 | 9:120,474,752 | A/G | — | uncertain significance |
| rs5030711 | 9:120,474,841 | C/A | — | likely benign |
| rs1472391447 | 9:120,474,842 | A/G | — | uncertain significance |
| rs5030712 | 9:120,474,895 | A/G | — | benign |
| rs16906079 | 9:120,474,929 | A/G | — | likely benign |
| rs2490696088 | 9:120,474,963 | A/G | — | uncertain significance |
| rs770334820 | 9:120,475,013 | C/G | — | uncertain significance |
| rs200195902 | 9:120,475,020 | A/T | — | uncertain significance |
| rs199885534 | 9:120,475,232 | G/T | — | uncertain significance |
| rs137853920 | 9:120,475,248 | G/A | — | likely benign |
| rs4986790 | 9:120,475,302 | A/G | missense variant | uncertain significance |
| rs141534085 | 9:120,475,307 | A/G | — | uncertain significance |
| rs766243776 | 9:120,475,331 | A/T | — | uncertain significance |
| rs1297031365 | 9:120,475,421 | A/G | — | uncertain significance |
| rs559949755 | 9:120,475,423 | C/A | — | uncertain significance |
| rs200713994 | 9:120,475,434 | G/T | — | uncertain significance |
| rs56070048 | 9:120,475,468 | A/G | — | likely benign |
| rs2490698691 | 9:120,475,499 | A/G | — | uncertain significance |
| rs776184447 | 9:120,475,534 | G/T | — | uncertain significance |
| rs201114738 | 9:120,475,547 | A/G | — | uncertain significance |
| rs4986791 | 9:120,475,602 | C/T | missense variant | uncertain significance |
| rs5030716 | 9:120,475,735 | C/T | — | likely benign |
| rs753955195 | 9:120,475,772 | C/T | — | uncertain significance |
| rs1452442766 | 9:120,475,797 | A/T | — | uncertain significance |
| rs2490699868 | 9:120,475,837 | A/T | — | uncertain significance |
| rs1253263371 | 9:120,475,851 | C/T | — | uncertain significance |
| rs139649148 | 9:120,475,927 | A/G | — | likely benign |
| rs5030719 | 9:120,475,936 | G/T | missense variant | benign |
| rs140976297 | 9:120,476,041 | C/T | — | likely benign |
| rs2490700765 | 9:120,476,082 | C/T | — | uncertain significance |
| rs373003429 | 9:120,476,094 | A/G | — | uncertain significance |
| rs5030720 | 9:120,476,185 | G/A | — | uncertain significance |
| rs1564266590 | 9:120,476,228 | G/A | — | uncertain significance |
| rs1179502477 | 9:120,476,261 | C/T | — | uncertain significance |
| rs146859162 | 9:120,476,271 | G/A | — | uncertain significance |
| rs140661916 | 9:120,476,305 | C/A | — | likely benign |
| rs201792813 | 9:120,476,361 | A/G | — | uncertain significance |
| rs5030721 | 9:120,476,365 | A/G | — | benign |
| rs756599860 | 9:120,476,452 | C/A | — | uncertain significance |
| rs5030723 | 9:120,476,694 | G/A | — | likely benign |
| rs2131173424 | 9:120,476,714 | G/A | — | uncertain significance |
| rs1829305257 | 9:120,476,726 | G/C | — | likely benign |
| rs775051206 | 9:120,476,754 | T/C | — | uncertain significance |
| rs2490703406 | 9:120,476,756 | G/C | — | uncertain significance |
| rs1829310009 | 9:120,476,878 | A/C | — | uncertain significance |
| rs1588095779 | 9:120,476,880 | G/A | — | not provided |
| rs2490703893 | 9:120,476,889 | G/A | — | likely benign |
| rs200675400 | 9:120,477,381 | G/A | — | likely benign |
| rs41426344 | 9:120,477,933 | G/C | 3 prime UTR variant | — |
| rs7869402 | 9:120,478,032 | C/T | 3 prime UTR variant | — |
| rs1057317 | 9:120,478,042 | C/A | — | — |
| rs11536889 | 9:120,478,131 | G/A | — | — |
| rs7873784 | 9:120,478,936 | G/C | 3 prime UTR variant | benign |
| rs11536891 | 9:120,479,337 | T/C | downstream gene variant | — |
| rs11536897 | 9:120,480,010 | G/A | downstream gene variant | — |
| rs1927906 | 9:120,480,115 | T/C | downstream gene variant | — |
| rs11536898 | 9:120,480,210 | C/A | downstream gene variant | — |
| rs1554973 | 9:120,480,812 | T/C | downstream gene variant | — |
| rs2490712862 | 9:120,481,018 | C/T | — | uncertain significance |
| rs7860896 | 9:120,483,103 | A/G | regulatory region variant | — |
| rs2490715531 | 9:120,483,216 | C/A | — | likely benign |
| rs7037117 | 9:120,483,663 | A/G | downstream gene variant | — |
| rs913930 | 9:120,484,009 | G/A | downstream gene variant | — |
| rs1927905 | 9:120,485,308 | T/C | intergenic variant | — |
| rs7045953 | 9:120,485,795 | A/G | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.