LAIR1
leukocyte associated immunoglobulin like receptor 1
Summary
The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs60908248 | 19:54,863,629 | T/G | coding sequence variant | — |
| rs1350161215 | 19:54,866,927 | T/C | — | uncertain significance |
| rs189639309 | 19:54,867,374 | C/A | upstream gene variant | — |
| rs184253479 | 19:54,867,583 | C/T | — | uncertain significance |
| rs758783816 | 19:54,867,853 | A/G | — | uncertain significance |
| rs2514037317 | 19:54,867,862 | A/G | — | uncertain significance |
| rs570102486 | 19:54,868,120 | C/T | — | uncertain significance |
| rs1403385861 | 19:54,868,138 | A/G | — | uncertain significance |
| rs756908044 | 19:54,868,193 | G/T | — | uncertain significance |
| rs117655127 | 19:54,868,834 | G/A | upstream gene variant | — |
| rs113105978 | 19:54,870,889 | G/C | — | — |
| rs763391018 | 19:54,872,588 | C/G | — | uncertain significance |
| rs75753441 | 19:54,872,599 | G/A | synonymous variant | — |
| rs371498223 | 19:54,872,628 | G/A | — | uncertain significance |
| rs779173649 | 19:54,872,763 | C/T | — | uncertain significance |
| rs527661866 | 19:54,872,769 | G/T | — | uncertain significance |
| rs143753958 | 19:54,872,789 | G/A | — | uncertain significance |
| rs2514177721 | 19:54,875,922 | T/C | — | uncertain significance |
| rs144259357 | 19:54,881,382 | A/C | upstream gene variant | — |
| rs4021843 | 19:54,882,068 | A/G | regulatory region variant | — |
| rs750405620 | 19:54,889,353 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.