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

• Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S, Backofen R, Platzer M . Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity . Nature Genetics . 36 . 12 . 1255–1257 . December 2004 . 15516930 . 10.1038/ng1469 . 1929093 .
• Rybicki BA, Walewski JL, Maliarik MJ, Kian H, Iannuzzi MC . The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites . American Journal of Human Genetics . 77 . 3 . 491–499 . September 2005 . 16080124 . 1226214 . 10.1086/444435 .
• Traherne JA, Barcellos LF, Sawcer SJ, Compston A, Ramsay PP, Hauser SL, Oksenberg JR, Trowsdale J . Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15 . Human Molecular Genetics . 15 . 1 . 155–161 . January 2006 . 16321988 . 10.1093/hmg/ddi436 . free .
• Orozco G, Eerligh P, Sánchez E, Zhernakova S, Roep BO, González-Gay MA, López-Nevot MA, Callejas JL, Hidalgo C, Pascual-Salcedo D, Balsa A, González-Escribano MF, Koeleman BP, Martín J . Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus . Human Immunology . 66 . 12 . 1235–1241 . December 2005 . 16690410 . 10.1016/j.humimm.2006.02.003 .
• Campo I, Morbini P, Zorzetto M, Tinelli C, Brunetta E, Villa C, Bombieri C, Cuccia M, Agostini C, Bozzi V, Facoetti A, Ferrarotti I, Mazzola P, Scabini R, Semenzato G, Pignatti PF, Pozzi E, Luisetti M . Expression of receptor for advanced glycation end products in sarcoid granulomas . American Journal of Respiratory and Critical Care Medicine . 175 . 5 . 498–506 . March 2007 . 17170388 . 10.1164/rccm.200601-136OC .
• Arnett HA, Escobar SS, Gonzalez-Suarez E, Budelsky AL, Steffen LA, Boiani N, Zhang M, Siu G, Brewer AW, Viney JL . BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation . Journal of Immunology . 178 . 3 . 1523–1533 . February 2007 . 17237401 . 10.4049/jimmunol.178.3.1523 . free .
• Möller M, Kwiatkowski R, Nebel A, van Helden PD, Hoal EG, Schreiber S . Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population . Microbes and Infection . 9 . 4 . 522–528 . April 2007 . 17347014 . 10.1016/j.micinf.2007.01.011 . free .
• Johnson CM, Traherne JA, Jamieson SE, Tremelling M, Bingham S, Parkes M, Blackwell JM, Trowsdale J . Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease . Tissue Antigens . 69 . 3 . 236–241 . March 2007 . 17493147 . 10.1111/j.1399-0039.2006.00795.x .
• Mochida A, Kinouchi Y, Negoro K, Takahashi S, Takagi S, Nomura E, Kakuta Y, Tosa M, Shimosegawa T . Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502 . Tissue Antigens . 70 . 2 . 128–135 . August 2007 . 17610417 . 10.1111/j.1399-0039.2007.00866.x .
• Spagnolo P, Sato H, Grutters JC, Renzoni EA, Marshall SE, Ruven HJ, Wells AU, Tzouvelekis A, van Moorsel CH, van den Bosch JM, du Bois RM, Welsh KI . Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis . Tissue Antigens . 70 . 3 . 219–227 . September 2007 . 17661910 . 10.1111/j.1399-0039.2007.00879.x .

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 . 373–382 . April 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, Müller-Quernheim J, Schürmann M, Schreiber S . Sarcoidosis is associated with a truncating splice site mutation in BTNL2 . Nature Genetics . 37 . 4 . 357–364 . April 2005 . 15735647 . 10.1038/ng1519 . 11965918 .
3. Web site: Entrez Gene: BTNL2 butyrophilin-like 2 (MHC class II associated).
4. Pagani L, Lawson DJ, Jagoda E, Mörseburg A, Eriksson A, Mitt M, Clemente F, Hudjashov G, DeGiorgio M, Saag L, Wall JD, Cardona A, Mägi R, Wilson Sayres MA, Kaewert S, Inchley C, Scheib CL, Järve M, Karmin M, Jacobs GS, Antao T, Iliescu FM, Kushniarevich A, Ayub Q, Tyler-Smith C, Xue Y, Yunusbayev B, Tambets K, Mallick CB, Saag L, Pocheshkhova E, Andriadze G, Muller C, Westaway MC, Lambert DM, Zoraqi G, Turdikulova S, Dalimova D, Sabitov Z, Sultana GN, Lachance J, Tishkoff S, Momynaliev K, Isakova J, Damba LD, Gubina M, Nymadawa P, Evseeva I, Atramentova L, Utevska O, Ricaut FX, Brucato N, Sudoyo H, Letellier T, Cox MP, Barashkov NA, Skaro V, Mulahasanovic L, Primorac D, Sahakyan H, Mormina M, Eichstaedt CA, Lichman DV, Abdullah S, Chaubey G, Wee JT, Mihailov E, Karunas A, Litvinov S, Khusainova R, Ekomasova N, Akhmetova V, Khidiyatova I, Marjanović D, Yepiskoposyan L, Behar DM, Balanovska E, Metspalu A, Derenko M, Malyarchuk B, Voevoda M, Fedorova SA, Osipova LP, Lahr MM, Gerbault P, Leavesley M, Migliano AB, Petraglia M, Balanovsky O, Khusnutdinova EK, Metspalu E, Thomas MG, Manica A, Nielsen R, Villems R, Willerslev E, Kivisild T, Metspalu M . Genomic analyses inform on migration events during the peopling of Eurasia . Nature . 538 . 7624 . 238–242 . October 2016 . 27654910 . 5164938 . 10.1038/nature19792 . 2016Natur.538..238P .