Ask about this productRelated genes to: BTNL3 Blocking Peptide
- Gene:
- BTNL3 NIH gene
- Name:
- butyrophilin like 3
- Previous symbol:
- -
- Synonyms:
- BTNLR, BTN9.1
- Chromosome:
- 5q35.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-08-22
- Date modifiied:
- 2016-10-05
Related products to: BTNL3 Blocking Peptide
Related articles to: BTNL3 Blocking Peptide
- γδ T cells maintain intestinal immune homeostasis, but their contributions to human ulcerative colitis (UC) are poorly understood. We characterized γδ T cells in intestinal biopsies obtained from patients with UC and healthy donors using single-cell RNA sequencing, T cell receptor profiling, and mass cytometry. UC reduced CD103Vγ4Vδ1 γδ intraepithelial lymphocytes (γδ IELs) and increased γδ T cell subsets with stemlike phenotypes expressing TCF-1 (T cell factor 1) and PD-1 (programmed cell death receptor 1) or effector-like phenotypes expressing granzyme B, perforin, and T-bet in the lamina propria. γδ T cell composition changes in UC correlated with decreased expression of epithelial and and increased and , suggesting altered recruitment and activation. Clinical improvement recovered γδ IELs and reduced inflammation-associated subsets. Inflammation-associated changes were observed in peripheral blood γδ T cells. Thus, distinct γδ T cell subsets in different niches exert protective or pathogenic functions in UC. - Source: PubMed
Publication date: 2026/02/06
Mayer Lena SArnold JakobRoettele FelixReuter NadinePattekar AjinkyaOhtani TakuyaRibeiro Mariana MSiwicki RebeccaBruder KerstinObwegs DavidStahl ElinBuechel SarahRoehlen NataschaKolter JuliaMansoori Moghadam ZohrehAlaswad AhmedZhumalidova ZhibekLi GuangLiu XinjuanLi YangSingh AmitVillacorta Hidalgo JoseParaskevopoulou Maria DYajnik VijayJuarez JuliusRen YueLi HongzheWherry E JohnLewis James DWu Gary DBewtra MeenakshiTomov Vesselin TThimme RobertBengsch BertramHasselblatt PeterPicelli SimoneHofmann MaikeSagar - Multiple sclerosis (MS) is a chronic autoimmune disorder with a complex interplay of genetic and environmental factors. The familial aggregation of MS cases, especially within genetically related families, suggests a strong genetic component with high penetrance. This study explores the genetic factors contributing to MS in two multiclient MS families. Whole exome sequencing (WES) was performed on affected and unaffected members of the two multi-incident MS families with a history of genetic homogeneity. Selected variants were validated using appropriate molecular methods and linkage analysis under an autosomal recessive model. In silico analyses including protein modeling with AlphaFold3 and molecular docking using HADDOCK2.4, were conducted to evaluate the functional impact of the identified variants. Our study revealed two co-segregating copy number variants (CNVs) in BTNL3 and BTNL8 genes in one family. In silico modeling showed that the BTNL8*3 fusion protein, resulting from the identified CNVs, exhibited reduced binding affinity with the Vγ4 T-cell receptor (TCR). Comparison of the binding affinity between the BTNL8-BTNL3 heterodimer and BTNL8*3 fusion protein with Vγ4 TCRs revealed HADDOCK scores of -23.8 ± 4.8 and 8.8 ± 9.2, respectively, suggesting altered T-cell activation and a potential role in MS pathogenesis. A rare MBL2 variant (p.Pro101Leu) was also found in the second family, though its incomplete segregation with the MS phenotype suggests it may act as a genetic modifier. This study underscores the importance of both single-nucleotide variants and copy number in familial MS. The segregation pattern and characteristics of the identified variants in BTNL3 and BTNL8 support their potential association with disease risk. The BTNL8*BTNL3 fusion may influence γδ T cell selection and MS pathogenesis, warranting further functional studies. - Source: PubMed
Publication date: 2025/12/01
Torabi-Rahvar MonirehTalebi SaeedSalehi NajmehSahraian Mohammad AliSalehi ZahraIzad Maryam - The study aimed to investigate the prognostic significance of efferocytosis-related genes in ovarian cancer (OC) with regard to cancer development, progression, invasion, and metastasis. OC cohorts were assembled from bioinformatics repositories. Utilizing consensus clustering analysis, distinct clusters were delineated based on the intersection of OC-related genes and efferocytosis-related genes. A prognostic signature specific to efferocytosis in OC was developed using data from The Cancer Genome Atlas, validated against the gene expression omnibus database, and subjected to independent prognostic analysis. Subsequently, a nomogram model was formulated. Moreover, investigations encompassed the immune microenvironment, immunotherapy, mutation profiling, drug sensitivity assessments, drug prediction models, and molecular docking analyses. Finally, quantitative reverse transcription polymerase chain reaction (qRT-PCR) assays were employed to ascertain the mRNA expression levels of key genes. Five key genes, FCGBP, BTN3A3, WDR91, SLC25A45, and BTNL3, were identified as significantly associated with OC. Both datasets and qRT-PCR demonstrated elevated expression levels of FCGBP and WDR91 in OC. Notably, AFLATOXIN B1 exhibited strong binding affinity to SLC25A45, ciclopirox to BTN3A3, and irinotecan to WDR91. The risk score, age, and stage were identified as independent prognostic factors, with the nomogram displaying efficacy in predicting OC patient survival. Variations in the immune cell infiltration profiles, including naive B cells, and expression levels of 6 immune checkpoint genes, such as CTLA4, were notable. High tumor mutation burden scores were associated with improved survival outcomes. Additionally, significant differences in the IC50 values of 123 anticancer drugs were observed between the 2 risk groups. This findings of this study highlight the efficacy of the efferocytosis-associated risk model in predicting the survival outcomes of OC patients, thus providing a novel reference for prognostic prediction in OC patients. - Source: PubMed
Yuan XiaoqingHu YajunLi NaHe PeiWang DonghuaLiu YanLuo Yajuan - Multisystem inflammatory syndrome in children (MIS-C) is a rare condition associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and characterised by systemic inflammation and T-cell dysfunction. A subset of patients with MIS-C were found to harbour rare variants in the gene BTNL8 that disrupt BTNL8-BTNL3 heterodimer formation, likely leading to inadequate γδ T-cell regulation and subsequent disrupted gut homeostasis. MIS-C shares clinical features with Kawasaki disease and similar mechanisms of pathogenesis with inflammatory bowel disease, despite these diseases being clinically distinct entities. We explore the common link between these diseases: the potentially critical role gut immunity plays in the initiation and persistence of disease through the tight regulation of γδ T cells via BTNL8 and BTNL3. Understanding the role of BTNL8 in the context of the overlap between these conditions may aid preventative measures and treatment of these conditions. - Source: PubMed
Publication date: 2025/09/18
Santillo DilysBellos EvangelosSancho-Shimizu Vanessa - Murine intraepithelial γδ T cells include distinct tissue-protective cells selected by epithelial butyrophilin-like (BTNL) heteromers. To determine whether this biology is conserved in humans, we characterized the colonic γδ T cell compartment, identifying a diverse repertoire that includes a phenotypically distinct subset coexpressing T cell receptor Vγ4 and the epithelium-binding integrin CD103. This subset was disproportionately diminished and dysregulated in inflammatory bowel disease, whereas on-treatment CD103γδ T cell restoration was associated with sustained inflammatory bowel disease remission. Moreover, CD103Vγ4cell dysregulation and loss were also displayed by humans with germline BTNL3/BTNL8 hypomorphism, which we identified as a risk factor for penetrating Crohn's disease (CD). Thus, BTNL-dependent selection and/or maintenance of distinct tissue-intrinsic γδ T cells appears to be an evolutionarily conserved axis limiting the progression of a complex, multifactorial, tissue-damaging disease of increasing global incidence. - Source: PubMed
Publication date: 2023/09/15
Dart Robin JZlatareva IvaVantourout PierreTheodoridis EfstathiosAmar AriellaKannambath ShichinaEast PhilipRecaldin TimothyMansfield John CLamb Christopher AParkes MilesIrving Peter MPrescott Natalie JHayday Adrian C