LILRA5
leukocyte immunoglobulin like receptor A5
Summary
The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542141602 | 19:54,818,093 | A/G | — | — |
| rs2516579143 | 19:54,818,708 | G/A | — | uncertain significance |
| rs756726234 | 19:54,818,820 | C/G | — | uncertain significance |
| rs748068909 | 19:54,819,027 | G/A | — | uncertain significance |
| rs78858433 | 19:54,819,995 | C/T | upstream gene variant | — |
| rs187582540 | 19:54,820,045 | G/A | upstream gene variant | — |
| rs781073941 | 19:54,822,724 | T/C | — | likely benign |
| rs368832494 | 19:54,822,788 | G/C | — | uncertain significance |
| rs748582535 | 19:54,822,831 | G/T | — | uncertain significance |
| rs149754029 | 19:54,822,902 | C/A | — | uncertain significance |
| rs752251483 | 19:54,823,158 | C/T | — | uncertain significance |
| rs1161905623 | 19:54,823,182 | G/A | — | uncertain significance |
| rs2516609495 | 19:54,823,194 | A/G | — | uncertain significance |
| rs146444616 | 19:54,823,313 | C/T | — | uncertain significance |
| rs369600578 | 19:54,823,316 | T/G | — | uncertain significance |
| rs145772849 | 19:54,823,326 | C/T | — | uncertain significance |
| rs765634308 | 19:54,823,340 | T/C | — | uncertain significance |
| rs568715215 | 19:54,823,346 | C/T | — | uncertain significance |
| rs773544249 | 19:54,823,347 | G/A | — | likely benign |
| rs2516611457 | 19:54,823,349 | A/C | — | uncertain significance |
| rs748317213 | 19:54,823,376 | A/G | — | uncertain significance |
| rs370553700 | 19:54,823,414 | G/T | — | uncertain significance |
| rs150282894 | 19:54,823,614 | C/G | — | uncertain significance |
| rs1293549681 | 19:54,823,616 | T/C | — | uncertain significance |
| rs2516616115 | 19:54,823,822 | C/T | — | uncertain significance |
| rs147188170 | 19:54,823,854 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.