BTNL2

BTNL2
Identifiers
Aliases	BTNL2 , BTL-II, BTN7, HSBLMHC1, SS2, butyrophilin like 2
External IDs	OMIM: 606000; MGI: 1859549; HomoloGene: 10482; GeneCards: BTNL2; OMA:BTNL2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.32 Start 32,393,339 bp [1] End 32,407,181 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 B1|17 17.98 cM Start 34,573,796 bp [2] End 34,588,469 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve ventricular zone gonad ganglionic eminence right ovary lymph node left ovary superior frontal gyrus smooth muscle tissue endometrium Top expressed in jejunum duodenum granulocyte morula ileum epithelium of small intestine colon stomach thymus esophagus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding Cellular component membrane integral component of membrane plasma 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 ENSG00000275798 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: 34.57 – 34.59 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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, ENSG00000275798 GRCh38: Ensembl release 89: ENSG00000225845, ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290, ENSG00000275798 – 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 (April 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): 373–382. doi:10.1007/s002510050633. PMID   10803852. S2CID   31938388.
6. Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, et al. (April 2005). "Sarcoidosis is associated with a truncating splice site mutation in BTNL2". Nature Genetics. 37 (4): 357–364. doi:10.1038/ng1519. PMID   15735647. S2CID   11965918.
7. "Entrez Gene: BTNL2 butyrophilin-like 2 (MHC class II associated)".
8. Pagani L, Lawson DJ, Jagoda E, Mörseburg A, Eriksson A, Mitt M, et al. (October 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

• Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S, et al. (December 2004). "Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity". Nature Genetics. 36 (12): 1255–1257. doi:10.1038/ng1469. PMID   15516930. S2CID   1929093.
• Rybicki BA, Walewski JL, Maliarik MJ, Kian H, Iannuzzi MC (September 2005). "The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites". American Journal of Human Genetics. 77 (3): 491–499. doi:10.1086/444435. PMC   1226214 . PMID   16080124.
• Traherne JA, Barcellos LF, Sawcer SJ, Compston A, Ramsay PP, Hauser SL, et al. (January 2006). "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. doi: 10.1093/hmg/ddi436 . PMID   16321988.
• Orozco G, Eerligh P, Sánchez E, Zhernakova S, Roep BO, González-Gay MA, et al. (December 2005). "Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus". Human Immunology. 66 (12): 1235–1241. doi:10.1016/j.humimm.2006.02.003. PMID   16690410.
• Campo I, Morbini P, Zorzetto M, Tinelli C, Brunetta E, Villa C, et al. (March 2007). "Expression of receptor for advanced glycation end products in sarcoid granulomas". American Journal of Respiratory and Critical Care Medicine. 175 (5): 498–506. doi:10.1164/rccm.200601-136OC. PMID   17170388.
• Arnett HA, Escobar SS, Gonzalez-Suarez E, Budelsky AL, Steffen LA, Boiani N, et al. (February 2007). "BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation". Journal of Immunology. 178 (3): 1523–1533. doi: 10.4049/jimmunol.178.3.1523 . PMID   17237401.
• Möller M, Kwiatkowski R, Nebel A, van Helden PD, Hoal EG, Schreiber S (April 2007). "Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population". Microbes and Infection. 9 (4): 522–528. doi: 10.1016/j.micinf.2007.01.011 . PMID   17347014.
• Johnson CM, Traherne JA, Jamieson SE, Tremelling M, Bingham S, Parkes M, et al. (March 2007). "Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease". Tissue Antigens. 69 (3): 236–241. doi:10.1111/j.1399-0039.2006.00795.x. PMID   17493147.
• Mochida A, Kinouchi Y, Negoro K, Takahashi S, Takagi S, Nomura E, et al. (August 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): 128–135. doi:10.1111/j.1399-0039.2007.00866.x. PMID   17610417.
• Spagnolo P, Sato H, Grutters JC, Renzoni EA, Marshall SE, Ruven HJ, et al. (September 2007). "Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis". Tissue Antigens. 70 (3): 219–227. doi:10.1111/j.1399-0039.2007.00879.x. hdl: 11380/983394 . PMID   17661910.