BTNL2 explained

Butyrophilin-like protein 2 is a protein that in humans is encoded by the BTNL2 gene.^{[1] [2] [3]}

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.^[4]

Further reading

• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Mungall AJ, Palmer SA, Sims SK . The DNA sequence and analysis of human chromosome 6 . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . 2003Natur.425..805M . etal. free .
• Hiller M, Huse K, Szafranski K . Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity . Nat. Genet. . 36 . 12 . 1255–7 . 2005 . 15516930 . 10.1038/ng1469 . 1929093 . etal.
• Rybicki BA, Walewski JL, Maliarik MJ . The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites . Am. J. Hum. Genet. . 77 . 3 . 491–9 . 2006 . 16080124 . 10.1086/444435 . 1226214 . etal.
• Traherne JA, Barcellos LF, Sawcer SJ . Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15 . Hum. Mol. Genet. . 15 . 1 . 155–61 . 2006 . 16321988 . 10.1093/hmg/ddi436 . etal. free .
• Orozco G, Eerligh P, Sánchez E . Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus . Hum. Immunol. . 66 . 12 . 1235–41 . 2006 . 16690410 . 10.1016/j.humimm.2006.02.003 . etal.
• Campo I, Morbini P, Zorzetto M . Expression of receptor for advanced glycation end products in sarcoid granulomas . Am. J. Respir. Crit. Care Med. . 175 . 5 . 498–506 . 2007 . 17170388 . 10.1164/rccm.200601-136OC . etal.
• Arnett HA, Escobar SS, Gonzalez-Suarez E . BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation . J. Immunol. . 178 . 3 . 1523–33 . 2007 . 17237401 . 10.4049/jimmunol.178.3.1523. etal. free .
• Möller M, Kwiatkowski R, Nebel A . Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population . Microbes Infect. . 9 . 4 . 522–8 . 2007 . 17347014 . 10.1016/j.micinf.2007.01.011 . etal. free .
• Johnson CM, Traherne JA, Jamieson SE . Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease . Tissue Antigens . 69 . 3 . 236–41 . 2007 . 17493147 . 10.1111/j.1399-0039.2006.00795.x . etal.
• Mochida A, Kinouchi Y, Negoro K . 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 . 2007 . 17610417 . 10.1111/j.1399-0039.2007.00866.x . etal.
• Spagnolo P, Sato H, Grutters JC . Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis . Tissue Antigens . 70 . 3 . 219–27 . 2007 . 17661910 . 10.1111/j.1399-0039.2007.00879.x . etal.

Notes and References

1. Stammers M, Rowen L, Rhodes D, Trowsdale J, Beck S . 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 . May 2000 . 10803852 . 10.1007/s002510050633 . 31938388 .
2. 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 . Sarcoidosis is associated with a truncating splice site mutation in BTNL2 . Nat Genet . 37 . 4 . 357–64 . Mar 2005 . 15735647 . 10.1038/ng1519 . 11965918 .
3. Web site: Entrez Gene: BTNL2 butyrophilin-like 2 (MHC class II associated).
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