BTNL2
butyrophilin like 2
Summary
This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17208671 | 6:32,360,849 | G/A | — | — |
| rs17202393 | 6:32,361,485 | G/A | regulatory region variant | — |
| rs28362675 | 6:32,362,521 | C/G | — | uncertain significance |
| rs368019634 | 6:32,362,551 | C/T | — | uncertain significance |
| rs766219689 | 6:32,362,593 | C/T | — | uncertain significance |
| rs149545886 | 6:32,362,679 | G/A | — | benign |
| rs41521946 | 6:32,362,703 | G/T | missense variant | — |
| rs2482009950 | 6:32,362,730 | T/C | — | uncertain significance |
| rs28362677 | 6:32,362,741 | C/T | missense variant | — |
| rs28362678 | 6:32,362,745 | G/T | missense variant | — |
| rs1980493 | 6:32,363,215 | T/C | downstream gene variant | — |
| rs2076533 | 6:32,363,527 | C/A | — | — |
| rs2076530 | 6:32,363,816 | T/C | missense variant | risk factor |
| rs9268480 | 6:32,363,844 | C/T | synonymous variant | — |
| rs766344846 | 6:32,363,845 | T/G | — | uncertain significance |
| rs1342397593 | 6:32,363,876 | G/A | — | uncertain significance |
| rs1776433287 | 6:32,363,897 | G/T | — | likely benign |
| rs2076529 | 6:32,363,955 | T/C | synonymous variant | — |
| rs1776441449 | 6:32,363,978 | C/T | — | uncertain significance |
| rs146677249 | 6:32,364,137 | G/C | — | uncertain significance |
| rs3117139 | 6:32,364,667 | A/T | — | — |
| rs4248166 | 6:32,366,421 | T/C | downstream gene variant | — |
| rs2294881 | 6:32,367,604 | T/C | intron variant | — |
| rs3817964 | 6:32,367,997 | T/A | intron variant | — |
| rs3817963 | 6:32,368,087 | T/C | intron variant | — |
| rs9268485 | 6:32,368,558 | C/T | intron variant | — |
| rs9268486 | 6:32,368,560 | C/G | — | — |
| rs3763304 | 6:32,369,355 | C/T | regulatory region variant | — |
| rs3763305 | 6:32,369,488 | G/A | regulatory region variant | — |
| rs9461741 | 6:32,370,587 | G/A | — | — |
| rs768077235 | 6:32,370,706 | A/G | — | uncertain significance |
| rs185078933 | 6:32,370,729 | G/A | — | uncertain significance |
| rs2076523 | 6:32,370,835 | T/C | missense variant | — |
| rs9461742 | 6:32,370,859 | C/T | — | benign |
| rs774396428 | 6:32,370,906 | T/C | — | uncertain significance |
| rs73400847 | 6:32,371,640 | G/A | intron variant | — |
| rs2482098292 | 6:32,372,781 | T/C | — | uncertain significance |
| rs1356777626 | 6:32,372,797 | G/A | — | uncertain significance |
| rs28362682 | 6:32,372,863 | A/T | missense variant | — |
| rs866851842 | 6:32,372,928 | G/T | — | uncertain significance |
| rs753512877 | 6:32,372,943 | C/T | — | uncertain significance |
| rs373222791 | 6:32,373,042 | G/C | — | uncertain significance |
| rs10947261 | 6:32,373,232 | G/T | intron variant | — |
| rs10947262 | 6:32,373,312 | C/T | intron variant | — |
| rs186602811 | 6:32,373,347 | G/C | — | uncertain significance |
| rs3806156 | 6:32,373,698 | G/A | — | — |
| rs2395158 | 6:32,374,595 | A/G | intron variant | — |
| rs373704474 | 6:32,374,861 | C/A | — | uncertain significance |
| rs2150326782 | 6:32,374,863 | A/C | — | uncertain significance |
| rs41395046 | 6:32,374,865 | T/C | — | benign |
| rs9268492 | 6:32,375,280 | C/A | — | — |
| rs9268494 | 6:32,375,352 | A/T | — | — |
| rs9268499 | 6:32,375,695 | G/A | upstream gene variant | — |
| rs3763309 | 6:32,375,973 | C/T | — | — |
| rs17208853 | 6:32,376,360 | T/C | upstream gene variant | — |
| rs3763313 | 6:32,376,471 | A/C | upstream gene variant | — |
| rs3763317 | 6:32,376,788 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.