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Gene Review

BTNL2  -  butyrophilin-like 2 (MHC class II associated)

Homo sapiens

Synonyms: BTL-II, BTN7, Butyrophilin-like protein 2, HSBLMHC1, SS2
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Disease relevance of BTNL2


High impact information on BTNL2


Biological context of BTNL2

  • Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the gene butyrophilin-like 2 (BTNL2) was associated with the disease [1].
  • We demonstrate that like many other genes from the MHC, BTL-II is polymorphic in a selection of diverse HLA haplotypes [6].
  • The six discernable exons of the BTL-II locus encode a small hydrophobic amino acid sequence (which may be a signal peptide), two immunoglobulin domains, a small 7-amino acid, heptad repeat-like exon, and a further two immunoglobulin domains [6].
  • However, despite adequate power to detect an independent association, no difference in transmission of BTNL2 alleles or genotypes was observed in DRB1*15-negative individuals with MS [3].
  • The splice-site polymorphism in the BTNL2 gene was also investigated by RFLP analysis [7].

Anatomical context of BTNL2


Other interactions of BTNL2

  • Recent studies in sarcoidosis have identified association of a single nucleotide polymorphism (SNP) rs2076530 within BTNL2, a potential T-cell inhibitor, independent of the known DRB1 association [2].
  • Genotyping of the BTNL2 gene rs2076530 polymorphism was performed by real-time polymerase chain reaction technology, using the TaqMan 5'-allele discrimination assay [10].
  • Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus [10].
  • The RXRB gene was analysed as well as a splice-site variation of the butyrophilin-like (BTNL2) gene which is also located within the respective region [7].
  • The association of BTNL2 with MS observed in the African-American data set was also secondary to the primary DRB1*15 association [3].

Analytical, diagnostic and therapeutic context of BTNL2

  • BTNL2 is thus the first member of the butyrophilin family that regulates T cell activation, which has implications in immune diseases and immunotherapy [8].


  1. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Valentonyte, R., Hampe, J., Huse, K., Rosenstiel, P., Albrecht, M., Stenzel, A., Nagy, M., Gaede, K.I., 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. Nat. Genet. (2005) [Pubmed]
  2. Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Simmonds, M.J., Heward, J.M., Barrett, J.C., Franklyn, J.A., Gough, S.C. Clin. Endocrinol. (Oxf) (2006) [Pubmed]
  3. Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15. Traherne, J.A., Barcellos, L.F., Sawcer, S.J., Compston, A., Ramsay, P.P., Hauser, S.L., Oksenberg, J.R., Trowsdale, J. Hum. Mol. Genet. (2006) [Pubmed]
  4. BTNL2, a Butyrophilin/B7-Like Molecule, Is a Negative Costimulatory Molecule Modulated in Intestinal Inflammation. Arnett, H.A., Escobar, S.S., Gonzalez-Suarez, E., Budelsky, A.L., Steffen, L.A., Boiani, N., Zhang, M., Siu, G., Brewer, A.W., Viney, J.L. J. Immunol. (2007) [Pubmed]
  5. The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. Rybicki, B.A., Walewski, J.L., Maliarik, M.J., Kian, H., Iannuzzi, M.C. Am. J. Hum. Genet. (2005) [Pubmed]
  6. 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. Stammers, M., Rowen, L., Rhodes, D., Trowsdale, J., Beck, S. Immunogenetics (2000) [Pubmed]
  7. On the Wegener granulomatosis associated region on chromosome 6p21.3. Szyld, P., Jagiello, P., Csernok, E., Gross, W.L., Epplen, J.T. BMC Med. Genet. (2006) [Pubmed]
  8. BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation. Nguyen, T., Liu, X.K., Zhang, Y., Dong, C. J. Immunol. (2006) [Pubmed]
  9. Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population. Möller, M., Kwiatkowski, R., Nebel, A., van Helden, P.D., Hoal, E.G., Schreiber, S. Microbes Infect. (2007) [Pubmed]
  10. Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. Orozco, G., Eerligh, P., Sánchez, E., Zhernakova, S., Roep, B.O., González-Gay, M.A., López-Nevot, M.A., Callejas, J.L., Hidalgo, C., Pascual-Salcedo, D., Balsa, A., González-Escribano, M.F., Koeleman, B.P., Martín, J. Hum. Immunol. (2005) [Pubmed]
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