BTNL2

Butyrophilin-like protein 2 is a protein that in humans is encoded by the BTNL2 gene.[5][6][7]

BTNL2
Identifiers
Aliases	BTNL2, BTL-II, BTN7, HSBLMHC1, SS2, butyrophilin like 2
External IDs	OMIM: 606000 MGI: 1859549 HomoloGene: 10482 GeneCards: BTNL2
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.32 Start 32,393,963 bp[1] End 32,407,128 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B1|17 17.98 cM Start 34,354,822 bp[2] End 34,369,495 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • receptor binding Cellular component • membrane • integral component of membrane • cell membrane • external side of plasma membrane Biological process • regulation of immune response • T cell receptor signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56244	547431
Ensembl	ENSG00000225845 ENSG00000229741 ENSG00000226127 ENSG00000224770 ENSG00000225412 ENSG00000224242 ENSG00000229597 ENSG00000204290	ENSMUSG00000024340
UniProt	Q9UIR0	O70355
RefSeq (mRNA)	NM_001304561 NM_019602	NM_079835
RefSeq (protein)	NP_001291490	NP_524574
Location (UCSC)	Chr 6: 32.39 – 32.41 Mb	Chr 17: 34.35 – 34.37 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290 GRCh38: Ensembl release 89: ENSG00000225845, ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024340 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. PMID 10803852. S2CID 31938388.
6. 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. PMID 15735647. S2CID 11965918.
7. "Entrez Gene: BTNL2 butyrophilin-like 2 (MHC class II associated)".
8. Pagani, Luca; Lawson, Daniel John; Jagoda, Evelyn; Mörseburg, Alexander; Eriksson, Anders; Mitt, Mario; Clemente, Florian; Hudjashov, Georgi; DeGiorgio, Michael; Saag, Lauri; Wall, Jeffrey D.; Cardona, Alexia; Mägi, Reedik; Sayres, Melissa A. Wilson; Kaewert, Sarah; Inchley, Charlotte; Scheib, Christiana L.; Järve, Mari; Karmin, Monika; Jacobs, Guy S.; Antao, Tiago; Iliescu, Florin Mircea; Kushniarevich, Alena; Ayub, Qasim; Tyler-Smith, Chris; Xue, Yali; Yunusbayev, Bayazit; Tambets, Kristiina; Mallick, Chandana Basu; Saag, Lehti; Pocheshkhova, Elvira; Andriadze, George; Muller, Craig; Westaway, Michael C.; Lambert, David M.; Zoraqi, Grigor; Turdikulova, Shahlo; Dalimova, Dilbar; Sabitov, Zhaxylyk; Sultana, Gazi Nurun Nahar; Lachance, Joseph; Tishkoff, Sarah; Momynaliev, Kuvat; Isakova, Jainagul; Damba, Larisa D.; Gubina, Marina; Nymadawa, Pagbajabyn; Evseeva, Irina; Atramentova, Lubov; Utevska, Olga; Ricaut, François-Xavier; Brucato, Nicolas; Sudoyo, Herawati; Letellier, Thierry; Cox, Murray P.; Barashkov, Nikolay A.; Škaro, Vedrana; Mulahasanovic´, Lejla; Primorac, Dragan; Sahakyan, Hovhannes; Mormina, Maru; Eichstaedt, Christina A.; Lichman, Daria V.; Abdullah, Syafiq; Chaubey, Gyaneshwer; Wee, Joseph T. S.; Mihailov, Evelin; Karunas, Alexandra; Litvinov, Sergei; Khusainova, Rita; Ekomasova, Natalya; Akhmetova, Vita; Khidiyatova, Irina; Marjanović, Damir; Yepiskoposyan, Levon; Behar, Doron M.; Balanovska, Elena; Metspalu, Andres; Derenko, Miroslava; Malyarchuk, Boris; Voevoda, Mikhail; Fedorova, Sardana A.; Osipova, Ludmila P.; Lahr, Marta Mirazón; Gerbault, Pascale; Leavesley, Matthew; Migliano, Andrea Bamberg; Petraglia, Michael; Balanovsky, Oleg; Khusnutdinova, Elza K.; Metspalu, Ene; Thomas, Mark G.; Manica, Andrea; Nielsen, Rasmus; Villems, Richard; Willerslev, Eske; Kivisild, Toomas; Metspalu, Mait (21 September 2016). "Genomic analyses inform on migration events during the peopling of Eurasia". Nature. 538 (7624): 238–242. Bibcode:2016Natur.538..238P. doi:10.1038/nature19792. PMC 5164938. PMID 27654910.

External links

• Human BTNL2 genome location and BTNL2 gene details page in the UCSC Genome Browser.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
• 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. PMID 15516930. S2CID 1929093.
• Rybicki BA, Walewski JL, Maliarik MJ, et al. (2006). "The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites". Am. J. Hum. Genet. 77 (3): 491–9. doi:10.1086/444435. PMC 1226214. PMID 16080124.
• Traherne JA, Barcellos LF, Sawcer SJ, et al. (2006). "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. doi:10.1093/hmg/ddi436. PMID 16321988.
• 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. PMID 16690410.
• 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. PMID 17170388.
• Arnett HA, Escobar SS, Gonzalez-Suarez E, et al. (2007). "BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation". J. Immunol. 178 (3): 1523–33. doi:10.4049/jimmunol.178.3.1523. PMID 17237401.
• Möller M, Kwiatkowski R, Nebel A, et al. (2007). "Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population". Microbes Infect. 9 (4): 522–8. doi:10.1016/j.micinf.2007.01.011. PMID 17347014.
• 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. PMID 17493147.
• 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. PMID 17610417.
• 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. PMID 17661910.