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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BTN3A1
butyrophilin subfamily 3 member A1
Chromosome 6 · 6p22.2
NCBI Gene: 11119Ensembl: ENSG00000026950.19HGNC: HGNC:1138UniProt: A8K547
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
T cell receptor signaling pathwayprotein bindingplasma membranepositive regulation of cytokine productionneurodegenerative diseaseneoplasmsystemic lupus erythematosusesophageal squamous cell carcinoma
✦AI Summary

BTN3A1 (butyrophilin subfamily 3 member A1) is a transmembrane protein that plays critical roles in both γδ and αβ T cell regulation. For γδ T cells, BTN3A1 cooperates with BTN2A1 to form a phosphoantigen-sensing complex, where phosphoantigens such as HMBPP function as 'molecular glues' to promote heteromeric association between their intracellular domains 1. This phosphoantigen-mediated interaction drives conformational changes that enable γδ T cell receptor activation through a 'plier-like gripping' mechanism 2. BTN3A1 expression is regulated by metabolic stress through AMPK-dependent pathways, with ATP-producing processes and metabolic crises altering BTN3A1 cell surface levels 3. In αβ T cells, BTN3A1 acts as an immune checkpoint molecule by inhibiting T cell receptor activation through preventing segregation of N-glycosylated CD45 from the immune synapse 4. Disease associations include roles in cancer immunosurveillance, where BTN3A1-targeting antibodies can coordinate both αβ and γδ T cell antitumor responses 4, and autoimmune disorders like systemic lupus erythematosus, where BTN3A1 polymorphisms influence disease susceptibility 5. These dual regulatory functions position BTN3A1 as a potential therapeutic target for cancer immunotherapy and autoimmune disease treatment 6.

Sources cited
1
BTN3A1 cooperates with BTN2A1 and phosphoantigens act as molecular glues promoting their association
PMID: 37674084
2
BTN3A1 and BTN2A1 cooperate in a plier-like mechanism for γδ T cell receptor activation
PMID: 40505658
3
BTN3A1 expression is regulated by metabolic stress and AMPK-dependent pathways
PMID: 37648854
4
BTN3A1 inhibits αβ T cell activation by preventing CD45 segregation and coordinates antitumor responses
PMID: 32820120
5
BTN3A1 polymorphisms are associated with systemic lupus erythematosus susceptibility
PMID: 37688767
6
BTN3A1 is identified as a potential therapeutic target for autoimmune diseases
PMID: 38933282
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
neoplasmOpen Targets
0.10Weak
systemic lupus erythematosusOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.03Suggestive
nasopharyngeal carcinomaOpen Targets
0.03Suggestive
IGA glomerulonephritisOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
autoimmune lymphoproliferative syndrome type 2BOpen Targets
0.03Suggestive
Autoimmune lymphoproliferative syndrome with recurrent viral infectionsOpen Targets
0.03Suggestive
gliomaOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
synovial sarcomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLIN2Protein interaction97%MFGE8Protein interaction97%XDHProtein interaction97%PPLProtein interaction93%KPNA7Protein interaction78%IL1F10Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
89%
Ovary
61%
Liver
51%
Heart
33%
Brain
12%
Gene Interaction Network
Click a node to explore
BTN3A1PLIN2MFGE8XDHPPLKPNA7IL1F10
PROTEIN STRUCTURE
Preparing viewer…
PDB6ITA · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.42–0.83]
RankingsWhere BTN3A1 stands among ~20K protein-coding genes
  • #8,400of 20,598
    Most Researched53
  • #7,140of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedBTN3A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The B7:CD28 family and friends: Unraveling coinhibitory interactions.
PMID: 38354702
Immunity · 2024
1.00
2
CRISPR screens decode cancer cell pathways that trigger γδ T cell detection.
PMID: 37648854
Nature · 2023
0.90
3
Dissecting the shared genetic landscape of anxiety, depression, and schizophrenia.
PMID: 38637810
J Transl Med · 2024
0.80
4
Structures of butyrophilin multimers reveal a plier-like mechanism for Vγ9Vδ2 T cell receptor activation.
PMID: 40505658
Immunity · 2025
0.70
5
Identification of drug targets for Sjögren's syndrome: multi-omics Mendelian randomization and colocalization analyses.
PMID: 38933282
Front Immunol · 2024
0.60