LILRB5
leukocyte immunoglobulin like receptor B5
Summary
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147459562 | 19:54,754,341 | G/T | downstream gene variant | — |
| rs201610708 | 19:54,754,670 | C/T | — | uncertain significance |
| rs201685711 | 19:54,754,672 | T/C | — | uncertain significance |
| rs140799798 | 19:54,754,716 | A/C | — | likely benign |
| rs2516235028 | 19:54,754,721 | C/G | — | uncertain significance |
| rs374184163 | 19:54,754,732 | C/G | — | uncertain significance |
| rs112549096 | 19:54,754,760 | C/T | — | uncertain significance |
| rs1473576734 | 19:54,754,784 | C/G | — | uncertain significance |
| rs637515 | 19:54,754,946 | G/C | — | — |
| rs202197225 | 19:54,755,021 | G/A | downstream gene variant | — |
| rs12986064 | 19:54,755,133 | T/G | — | — |
| rs533519614 | 19:54,755,624 | G/C | — | — |
| rs624317 | 19:54,755,635 | G/T | downstream gene variant | — |
| rs1203224763 | 19:54,755,921 | G/T | — | uncertain significance |
| rs12976868 | 19:54,755,923 | A/G | synonymous variant | — |
| rs371759073 | 19:54,755,927 | A/G | — | uncertain significance |
| rs2516250540 | 19:54,755,948 | T/C | — | uncertain significance |
| rs375785511 | 19:54,755,961 | C/G | — | uncertain significance |
| rs7248556 | 19:54,755,962 | G/A | synonymous variant | — |
| rs190628353 | 19:54,755,996 | C/A | downstream gene variant | — |
| rs190991246 | 19:54,756,122 | C/T | downstream gene variant | — |
| rs147630506 | 19:54,756,248 | G/A | — | likely benign |
| rs762519162 | 19:54,756,385 | G/A | — | uncertain significance |
| rs367690586 | 19:54,756,400 | C/T | — | uncertain significance |
| rs149294774 | 19:54,756,415 | G/A | splice region variant | — |
| rs767241779 | 19:54,756,741 | C/A | — | uncertain significance |
| rs2079010582 | 19:54,756,835 | A/C | — | uncertain significance |
| rs568897572 | 19:54,758,245 | C/G | — | likely benign |
| rs370941646 | 19:54,758,654 | C/G | — | uncertain significance |
| rs368831698 | 19:54,758,672 | C/T | — | uncertain significance |
| rs149797743 | 19:54,758,762 | G/A | — | uncertain significance |
| rs201168501 | 19:54,758,810 | T/C | — | uncertain significance |
| rs148536360 | 19:54,758,822 | C/T | — | uncertain significance |
| rs373653005 | 19:54,758,835 | C/T | — | uncertain significance |
| rs778336166 | 19:54,758,840 | T/C | — | uncertain significance |
| rs111841445 | 19:54,758,880 | C/T | — | uncertain significance |
| rs393600 | 19:54,759,102 | G/A | intron variant | — |
| rs777016741 | 19:54,759,188 | A/C | — | uncertain significance |
| rs755832684 | 19:54,759,206 | G/A | — | uncertain significance |
| rs778997561 | 19:54,759,213 | G/A | — | likely benign |
| rs758427793 | 19:54,759,219 | T/C | — | likely benign |
| rs368465622 | 19:54,759,229 | C/T | — | uncertain significance |
| rs146167320 | 19:54,759,241 | C/G | — | uncertain significance |
| rs200348630 | 19:54,759,295 | T/C | — | uncertain significance |
| rs759307386 | 19:54,759,319 | T/C | — | uncertain significance |
| rs1308400353 | 19:54,759,356 | C/T | — | uncertain significance |
| rs12975366 | 19:54,759,361 | C/T | — | benign |
| rs574366743 | 19:54,759,394 | C/A | — | uncertain significance |
| rs145597773 | 19:54,759,395 | G/A | — | uncertain significance |
| rs373885228 | 19:54,759,443 | C/T | — | uncertain significance |
| rs751926134 | 19:54,759,941 | G/A | — | uncertain significance |
| rs2516315632 | 19:54,760,367 | C/T | — | uncertain significance |
| rs147284281 | 19:54,760,418 | G/T | — | uncertain significance |
| rs2516316552 | 19:54,760,442 | C/A | — | uncertain significance |
| rs140817608 | 19:54,760,444 | G/A | — | likely benign |
| rs1485437086 | 19:54,760,466 | C/T | — | uncertain significance |
| rs923890744 | 19:54,760,531 | C/T | — | uncertain significance |
| rs1474743927 | 19:54,760,565 | A/C | — | uncertain significance |
| rs1327157033 | 19:54,760,576 | G/C | — | uncertain significance |
| rs564549152 | 19:54,760,609 | G/T | — | uncertain significance |
| rs144513332 | 19:54,760,648 | T/C | intron variant | — |
| rs11879136 | 19:54,760,691 | C/A | — | — |
| rs117866885 | 19:54,761,348 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.