Because it is associated with the immune system and the major histocompatibility complex, it has been implicated in many diseases (see further reading list below). A large scale study found it to be the protein under the most stringent selection in the human genome in 8 out of 12 geographic regions using the HKA test.[8]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Stammers M, Rowen L, Rhodes D, Trowsdale J, Beck S (May 2000). "BTL-II: a polymorphic locus with homology to the butyrophilin gene family, located at the border of the major histocompatibility complex class II and class III regions in human and mouse". Immunogenetics. 51 (4–5): 373–82. doi:10.1007/s002510050633. PMID10803852. S2CID31938388.
^Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Muller-Quernheim J, Schurmann M, Schreiber S (Mar 2005). "Sarcoidosis is associated with a truncating splice site mutation in BTNL2". Nat Genet. 37 (4): 357–64. doi:10.1038/ng1519. PMID15735647. S2CID11965918.
Hiller M, Huse K, Szafranski K, et al. (2005). "Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity". Nat. Genet. 36 (12): 1255–7. doi:10.1038/ng1469. PMID15516930. S2CID1929093.
Orozco G, Eerligh P, Sánchez E, et al. (2006). "Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus". Hum. Immunol. 66 (12): 1235–41. doi:10.1016/j.humimm.2006.02.003. PMID16690410.
Campo I, Morbini P, Zorzetto M, et al. (2007). "Expression of receptor for advanced glycation end products in sarcoid granulomas". Am. J. Respir. Crit. Care Med. 175 (5): 498–506. doi:10.1164/rccm.200601-136OC. PMID17170388.
Johnson CM, Traherne JA, Jamieson SE, et al. (2007). "Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease". Tissue Antigens. 69 (3): 236–41. doi:10.1111/j.1399-0039.2006.00795.x. PMID17493147.
Mochida A, Kinouchi Y, Negoro K, et al. (2007). "Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502". Tissue Antigens. 70 (2): 128–35. doi:10.1111/j.1399-0039.2007.00866.x. PMID17610417.
Spagnolo P, Sato H, Grutters JC, et al. (2007). "Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis". Tissue Antigens. 70 (3): 219–27. doi:10.1111/j.1399-0039.2007.00879.x. PMID17661910.