BTNL2
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.
Full Name
Butyrophilin Like 2
Function
Negative regulator of T-cell proliferation.
Biological Process
Adaptive immune response Source: Reactome
Regulation of cytokine production Source: GO_Central
T cell receptor signaling pathway Source: GO_Central
Cellular Location
Membrane. Isoform 2 is present in the nuclear, vesicle and plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound.
Involvement in disease
Sarcoidosis 2 (SS2): Disease susceptibility is associated with variants affecting the gene represented in this entry. A nucleotide transition affecting a splice donor site results in the use of an alternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk for sarcoidosis. An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved.
Topology
Cytoplasmic: 1-6 aa
Helical: 7-23 aa
Extracellular: 24-455 aa