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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BTNL9
butyrophilin like 9
Chromosome 5 · 5q35.3
NCBI Gene: 153579Ensembl: ENSG00000165810.18HGNC: HGNC:24176UniProt: A0A1S5UZ21
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingregulation of cytokine productionT cell receptor signaling pathwayexternal side of plasma membraneenteritislung adenocarcinomaulnar-mammary syndromeHydrocephalus
✦AI Summary

BTNL9 is a butyrophilin-like immunoglobulin superfamily member located on the plasma membrane that functions as an immune checkpoint molecule and tumor suppressor. BTNL9 participates in T cell receptor signaling and regulates cytokine production 1. Mechanistically, BTNL9 suppresses cancer cell proliferation and metastasis through p53-dependent pathways, including p53/CDC25C and p53/GADD45 signaling 2. In normal contexts, BTNL9 downregulation impairs immune infiltration; specifically, low BTNL9 expression correlates with reduced B cell, CD4+ T cell, macrophage, and dendritic cell infiltration 1. Clinically, BTNL9 emerges as a prognostic biomarker across multiple cancers. In lung adenocarcinoma, breast cancer, thyroid cancer, and uveal melanoma, BTNL9 downregulation associates with poor overall survival and unfavorable outcomes 1234. A Polynesian-specific stop-gain variant (rs200884524) in BTNL9 associates with dyslipidemia, indicating metabolic functions 5. Additionally, elevated BTNL9 expression in BRAF-mutated colorectal peritoneal metastases suggests potential therapeutic targeting 6. In idiopathic pulmonary fibrosis, BTNL9 downregulation impairs alveolar protection 7. These findings establish BTNL9 as a multifunctional tumor suppressor and immune modulator with translational potential for cancer diagnosis and therapy.

Sources cited
1
BTNL9 is downregulated in lung adenocarcinoma and associates with poor survival; positively correlates with immune cell infiltration including B cells, CD4+ T cells, and dendritic cells
PMID: 34635082
2
BTNL9 inhibits proliferation and metastasis in breast cancer via p53/CDC25C and p53/GADD45 pathways; induces G2/M arrest
PMID: 33756341
3
BTNL9 is downregulated in thyroid cancer and independently predicts progression-free interval; involved in immune-related pathways
PMID: 37798795
4
High BTNL9 expression suppresses invasion and correlates with favorable prognosis in uveal melanoma
PMID: 31039142
5
A stop-gain variant in BTNL9 (rs200884524) associates with lower HDL-cholesterol and higher triglycerides in Polynesian populations
PMID: 36340932
6
BTNL9 is increased in BRAF-mutated colorectal peritoneal metastasis and represents a novel immune checkpoint target
PMID: 38982444
7
BTNL9 is downregulated in idiopathic pulmonary fibrosis and has protective effects on alveolar epithelial cells
PMID: 35015148
Disease Associationsⓘ20
enteritisOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
ulnar-mammary syndromeOpen Targets
0.07Suggestive
HydrocephalusOpen Targets
0.07Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
adverse effectOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
bacteriemiaOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.03Suggestive
melanomaOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
gastric carcinomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
Uveal MelanomaOpen Targets
0.02Suggestive
invasive breast ductal carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTN1A1Shared pathway100%BTNL3Shared pathway100%BTNL2Shared pathway100%BTNL8Shared pathway100%ERMAPShared pathway100%PLIN2Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Heart
56%
Liver
9%
Ovary
8%
Brain
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
BTNL9BTN1A1BTNL3BTNL2BTNL8ERMAPPLIN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UXG8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.81–1.32]
RankingsWhere BTNL9 stands among ~20K protein-coding genes
  • #16,106of 20,598
    Most Researched13
  • #13,911of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedBTNL9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Butyrophilin-like 9 expression is associated with outcome in lung adenocarcinoma.
PMID: 34635082
BMC Cancer · 2021
1.00
2
A stop-gain variant in
PMID: 36340932
HGG Adv · 2023
0.90
3
BTNL9 is frequently downregulated and inhibits proliferation and metastasis via the P53/CDC25C and P53/GADD45 pathways in breast cancer.
PMID: 33756341
Biochem Biophys Res Commun · 2021
0.80
4
Novel drug resistance mechanisms and drug targets in BRAF-mutated peritoneal metastasis from colorectal cancer.
PMID: 38982444
J Transl Med · 2024
0.70
5
Comprehensive analysis of BTNL9 as a prognostic biomarker correlated with immune infiltrations in thyroid cancer.
PMID: 37798795
BMC Med Genomics · 2023
0.60