TLR9
toll like receptor 9
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 (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144301361 | 3:52,255,239 | G/A | — | benign |
| rs1351034672 | 3:52,255,280 | G/T | — | uncertain significance |
| rs201853430 | 3:52,255,289 | T/C | — | uncertain significance |
| rs199839624 | 3:52,255,301 | T/C | — | uncertain significance |
| rs142806370 | 3:52,255,388 | G/A | — | uncertain significance |
| rs200209731 | 3:52,255,396 | C/T | — | uncertain significance |
| rs375003304 | 3:52,255,403 | G/A | — | uncertain significance |
| rs2470992849 | 3:52,255,415 | G/A | — | uncertain significance |
| rs2470992957 | 3:52,255,463 | G/A | — | uncertain significance |
| rs369679861 | 3:52,255,490 | G/A | — | uncertain significance |
| rs376675219 | 3:52,255,618 | C/T | — | uncertain significance |
| rs749180201 | 3:52,255,664 | C/T | — | uncertain significance |
| rs1395708601 | 3:52,255,703 | C/T | — | uncertain significance |
| rs755749895 | 3:52,255,726 | G/C | — | uncertain significance |
| rs5743845 | 3:52,255,744 | C/T | — | benign |
| rs763585272 | 3:52,255,756 | C/T | — | uncertain significance |
| rs1699557561 | 3:52,255,830 | C/A | — | uncertain significance |
| rs199768722 | 3:52,255,913 | G/A | — | uncertain significance |
| rs56239242 | 3:52,255,920 | C/T | — | benign |
| rs371712112 | 3:52,255,952 | C/T | — | uncertain significance |
| rs1339703035 | 3:52,255,954 | G/A | — | uncertain significance |
| rs988141890 | 3:52,255,972 | C/G | — | uncertain significance |
| rs780551078 | 3:52,255,973 | G/A | — | uncertain significance |
| rs148411655 | 3:52,256,084 | T/C | — | likely benign |
| rs144351655 | 3:52,256,181 | G/T | — | likely benign |
| rs145919121 | 3:52,256,299 | T/A | — | uncertain significance |
| rs765355058 | 3:52,256,356 | C/T | — | uncertain significance |
| rs1314371566 | 3:52,256,387 | G/A | — | uncertain significance |
| rs778315736 | 3:52,256,403 | G/A | — | likely benign |
| rs771867596 | 3:52,256,416 | C/T | — | likely benign |
| rs777700511 | 3:52,256,417 | G/A | — | uncertain significance |
| rs1377569265 | 3:52,256,532 | C/A | — | likely benign |
| rs2470994716 | 3:52,256,577 | G/T | — | uncertain significance |
| rs2470994769 | 3:52,256,618 | C/T | — | uncertain significance |
| rs115440379 | 3:52,256,621 | C/T | — | likely benign |
| rs35133926 | 3:52,256,643 | G/A | — | benign |
| rs1577980274 | 3:52,256,688 | C/T | — | likely benign |
| rs352140 | 3:52,256,697 | C/G | synonymous variant | — |
| rs756928475 | 3:52,256,744 | G/A | — | uncertain significance |
| rs35342983 | 3:52,256,805 | C/T | — | benign |
| rs201773500 | 3:52,256,891 | G/A | — | uncertain significance |
| rs2470995165 | 3:52,256,933 | T/C | — | uncertain significance |
| rs200190729 | 3:52,256,996 | C/A | — | uncertain significance |
| rs201448668 | 3:52,257,021 | C/A | — | uncertain significance |
| rs1410273857 | 3:52,257,056 | G/A | — | uncertain significance |
| rs764944818 | 3:52,257,070 | T/A | — | likely benign |
| rs550092930 | 3:52,257,079 | C/T | — | uncertain significance |
| rs35654187 | 3:52,257,183 | C/T | — | benign |
| rs200074687 | 3:52,257,251 | C/T | — | uncertain significance |
| rs201478966 | 3:52,257,516 | G/T | — | uncertain significance |
| rs769984937 | 3:52,257,593 | G/A | — | uncertain significance |
| rs148139239 | 3:52,257,636 | G/A | — | benign |
| rs140994532 | 3:52,257,683 | T/C | — | uncertain significance |
| rs1007724971 | 3:52,257,716 | G/A | — | uncertain significance |
| rs764783650 | 3:52,257,742 | C/G | — | uncertain significance |
| rs780099835 | 3:52,257,784 | G/C | — | likely pathogenic |
| rs201201841 | 3:52,257,845 | G/T | — | uncertain significance |
| rs116310431 | 3:52,257,891 | G/T | — | benign |
| rs1379324294 | 3:52,257,908 | G/A | — | uncertain significance |
| rs200627901 | 3:52,257,913 | G/A | — | uncertain significance |
| rs200978876 | 3:52,257,926 | T/C | — | uncertain significance |
| rs200206317 | 3:52,258,054 | T/C | — | uncertain significance |
| rs201572271 | 3:52,258,060 | T/C | — | likely benign |
| rs201646083 | 3:52,258,079 | G/A | — | uncertain significance |
| rs781684117 | 3:52,258,111 | C/T | — | uncertain significance |
| rs139333792 | 3:52,258,140 | A/G | — | likely benign |
| rs2470998280 | 3:52,258,169 | G/T | — | uncertain significance |
| rs139242193 | 3:52,258,278 | G/C | — | likely benign |
| rs199759037 | 3:52,258,318 | C/T | — | uncertain significance |
| rs5743842 | 3:52,258,319 | G/A | — | benign |
| rs352139 | 3:52,258,372 | T/G | — | — |
| rs5743836 | 3:52,260,782 | A/G | upstream gene variant | — |
| rs187084 | 3:52,261,031 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.