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BTNL2

From Wikipedia, the free encyclopedia

BTNL2
Identifiers
AliasesBTNL2, BTL-II, BTN7, HSBLMHC1, SS2, butyrophilin like 2
External IDsOMIM: 606000; MGI: 1859549; HomoloGene: 10482; GeneCards: BTNL2; OMA:BTNL2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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  1. ^ a b c ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290, ENSG00000275798 GRCh38: Ensembl release 89: ENSG00000225845, ENSG00000229741, ENSG00000226127, ENSG00000224770, ENSG00000225412, ENSG00000224242, ENSG00000229597, ENSG00000204290, ENSG00000275798Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024340Ensembl, 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.
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Further reading

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