BTNL2

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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; OMA:BTNL2 - orthologs

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6p21.32	Start	32,393,339 bp^[1]
Band	6p21.32	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]
Band	17 B1\|17 17.98 cM	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

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]

^ ^a ^b ^c ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290, ENSG00000275798 GRCh38: Ensembl release 89: ENSG00000225845, ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290, ENSG00000275798 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024340 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: BTNL2 butyrophilin-like 2 (MHC class II associated)".
^ 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.

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

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. PMID 17661910.