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Gene and Protein Information | ||||||
Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | 1 | 500 | 5q35.3 | BTNL8 | butyrophilin like 8 | |
Gene and Protein Information Comments | ||||||
Several transcript variants and protein isoforms are predicted from the human gene. We provide details for the longest form (variant 1, isoform 1) here. |
Previous and Unofficial Names |
BTN9.2 | butyrophilin-like 8 |
Database Links | |
Alphafold | Q6UX41 (Hs) |
CATH/Gene3D | 2.60.40.10 |
Ensembl Gene | ENSG00000113303 (Hs) |
Entrez Gene | 79908 (Hs) |
Human Protein Atlas | ENSG00000113303 (Hs) |
KEGG Gene | hsa:79908 (Hs) |
OMIM | 615606 (Hs) |
Pharos | Q6UX41 (Hs) |
RefSeq Nucleotide | NM_024850 (Hs) |
RefSeq Protein | NP_079126 (Hs) |
UniProtKB | Q6UX41 (Hs) |
Wikipedia | BTNL8 (Hs) |
Immunopharmacology Comments |
BTNL3 and BTNL8 are two proteins expressed on the surface of human gut epithelial cells that are involved in shaping the constitution of gut resident dendritic γδ T cells [2]. γδ T cells in epithelial surfaces play a role in immunosurveillance and hence barrier integrity. Organ-specific expression of butyrophilin and butyrophilin-like proteins appears to be a conserved mechanism utilised by epithelia to shape local T cell compartments. Altered expression of BTNL genes has been associated with intestinal inflammation and colon cancer [3]. Predicted-deleterious variants in BTNL8 have been identified in children presenting with post-COVID-19 multisystem inflammatory syndrome (MIS-C) [1]. It is suggested that these rare variants may predispose to disrupted gut homeostasis and MIS-C-associated enteropathy. This protein contains an immunoglobulin (Ig)-like domain that resembles the antibody variable domain, that has been coined the 'V-set domain'. The genes for all human V-set domain containing proteins are listed in HGNC gene group 590. |
Immuno Process Associations | ||
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1. Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H et al.. (2024) Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C). J Exp Med, 221 (12). [PMID:39576310]
2. Di Marco Barros R, Roberts NA, Dart RJ, Vantourout P, Jandke A, Nussbaumer O, Deban L, Cipolat S, Hart R, Iannitto ML et al.. (2016) Epithelia Use Butyrophilin-like Molecules to Shape Organ-Specific γδ T Cell Compartments. Cell, 167 (1): 203-218.e17. [PMID:27641500]
3. Lebrero-Fernández C, Wenzel UA, Akeus P, Wang Y, Strid H, Simrén M, Gustavsson B, Börjesson LG, Cardell SL, Öhman L et al.. (2016) Altered expression of Butyrophilin (BTN) and BTN-like (BTNL) genes in intestinal inflammation and colon cancer. Immun Inflamm Dis, 4 (2): 191-200. [PMID:27957327]
Butyrophilin and butyrophilin-like proteins: butyrophilin like 8. Last modified on 27/11/2024. Accessed on 11/12/2024. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetomalariapharmacology.org/GRAC/ObjectDisplayForward?objectId=2947.