BTNL2 Chromosome 6
Butyrophilin like 2
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What This Gene Does
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]
Gene Info
Gene Group
"Butyrophilins|V-set domain containing|C2-set domain containing"
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000204290
Associated Conditions (3)
Sarcoidosis
susceptibility to
2
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2076530 | Health Risk | risk factor | Sarcoidosis, susceptibility to, 2 |