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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BTNL8
butyrophilin like 8
Chromosome 5 · 5q35.3
NCBI Gene: 79908Ensembl: ENSG00000113303.13HGNC: HGNC:26131UniProt: Q6UX41
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextrathymic T cell selectionT cell receptor signaling pathwayexternal side of plasma membraneenteritisbenign neoplasm of spinal cordBarrett's esophagusesophageal adenocarcinoma
✦AI Summary

BTNL8 (butyrophilin-like 8) is a membrane-associated protein that plays a critical role in intestinal immune homeostasis through regulation of γδ T cells. The protein functions as part of a heterodimeric complex with BTNL3, expressed on intestinal epithelial cells, that selects and maintains tissue-resident Vγ4+ γδ intraepithelial lymphocytes (IELs) 1. This BTNL8-BTNL3 heterodimer specifically engages Vγ4+ T cell receptors on γδ T cells, promoting their selection and regulatory function in gut homeostasis 2. Loss or dysfunction of BTNL8 leads to depletion of protective CD103+Vγ4+ γδ IELs, which is associated with increased susceptibility to inflammatory bowel disease and compromised intestinal barrier function 13. Rare deleterious variants in BTNL8 have been identified as genetic risk factors for penetrating Crohn's disease and multisystem inflammatory syndrome in children (MIS-C), with impaired BTNL8 function linked to altered intestinal permeability 2. The protein may also be expressed by regulatory T cells induced by certain macrophage populations, suggesting additional immunoregulatory roles beyond epithelial expression 4. BTNL8 represents an evolutionarily conserved mechanism for maintaining gut immune balance through specialized γδ T cell regulation.

Sources cited
1
BTNL8 forms heterodimers with BTNL3 to select tissue-protective γδ T cells and limit IBD progression
PMID: 37708268
2
BTNL8 variants impair Vγ4+ γδ T cell engagement and are associated with MIS-C susceptibility
PMID: 39576310
3
Chronic inflammation depletes BTNL8-dependent Vγ4+ γδ IELs in celiac disease
PMID: 30739797
4
BTNL8 is expressed by regulatory T cells induced by specialized macrophages
PMID: 30059361
5
UC reduces CD103+Vγ4+ γδ IELs correlating with decreased BTNL8 expression
PMID: 41650251
Disease Associationsⓘ20
enteritisOpen Targets
0.14Weak
benign neoplasm of spinal cordOpen Targets
0.14Weak
Barrett's esophagusOpen Targets
0.08Suggestive
esophageal adenocarcinomaOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
COVID-19–associated multisystem inflammatory syndrome in childrenOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
autoimmune lymphoproliferative syndrome type 2BOpen Targets
0.01Suggestive
Autoimmune lymphoproliferative syndrome with recurrent viral infectionsOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Abnormal intestine morphologyOpen Targets
0.01Suggestive
bacterial diseaseOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTN1A1Shared pathway100%BTNL2Shared pathway100%BTNL9Shared pathway100%ERMAPShared pathway100%PLIN2Protein interaction92%XDHProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
46%
Liver
5%
Heart
3%
Ovary
1%
Brain
1%
Gene Interaction Network
Click a node to explore
BTNL8BTN1A1BTNL2BTNL9ERMAPPLIN2XDH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UX41
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.44–0.88]
RankingsWhere BTNL8 stands among ~20K protein-coding genes
  • #14,928of 20,598
    Most Researched17
  • #7,826of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedBTNL8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease.
PMID: 37708268
Science · 2023
1.00
2
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
PMID: 39576310
J Exp Med · 2024
0.90
3
Unravelling γδ T-cell dysregulation in the gut and its implications for immune-mediated diseases.
PMID: 40965151
Dis Model Mech · 2025
0.80
4
Novel molecules mediate specialized functions of human regulatory macrophages.
PMID: 30059361
Curr Opin Organ Transplant · 2018
0.70
5
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.
PMID: 23829304
BMC Genet · 2013
0.60