BTNL2

Protein-coding gene in the species Homo sapiens
BTNL2
Identifiers
AliasesBTNL2, BTL-II, BTN7, HSBLMHC1, SS2, butyrophilin like 2
External IDsOMIM: 606000; MGI: 1859549; HomoloGene: 10482; GeneCards: BTNL2; OMA:BTNL2 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for BTNL2
Genomic location for BTNL2
Band6p21.32Start32,393,339 bp[1]
End32,407,181 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for BTNL2
Genomic location for BTNL2
Band17 B1|17 17.98 cMStart34,573,796 bp[2]
End34,588,469 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 17: 34.57 – 34.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ 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
  2. ^ a b c 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.

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. Bibcode:2002PNAS...9916899M. 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.


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