TLR6 Gene: Toll Like Receptor 6
Key Innate Immune Receptor in Pathogen Recognition and Inflammatory Signaling
Gene Information Card
| Symbol | TLR6 |
|---|---|
| Full Name | Toll Like Receptor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 10333 ncbi.nlm.nih.gov/gene/10333 |
| Ensembl ID | ENSG00000174130 |
| UniProt ID | Q9Y2C9 |
| OMIM ID | 605403 |
| HGNC ID | 11850 |
| Aliases | CD286 |
Description
TLR6 (Toll Like Receptor 6) is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLR6 forms heterodimers with TLR2 to recognize diacylated lipopeptides from Gram-positive bacteria and mycoplasma, triggering downstream signaling pathways such as NF-κB and MAPK. The gene is located on chromosome 4p14 and encodes a protein of 796 amino acids. TLR6 is expressed predominantly in monocytes, macrophages, and B cells, and is involved in inflammatory responses and host defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | TLR6 polymorphisms may alter recognition of microbial components, influencing airway inflammation and asthma susceptibility. | PMID: 19060904 |
| Atherosclerosis | TLR6/TLR2 signaling in macrophages promotes pro-inflammatory cytokine production, contributing to plaque formation. | PMID: 21536891 |
| Sepsis | Variants in TLR6 are associated with altered cytokine responses and sepsis risk in critically ill patients. | PMID: 20047991 |
| Mycobacterial Infection | TLR6 deficiency impairs recognition of mycobacterial lipopeptides, increasing susceptibility to infection. | PMID: 17030597 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 15.2 | Medium |
| Whole Blood | 10.8 | Medium |
| Bone Marrow | 8.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 18.5 | High expression |
| U937 (macrophage) | 14.2 | High expression |
| HEK293T | 0.5 | Very low expression |
| HeLa | 1.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs5743810 (S249P) | missense | 0.25 (global) | Altered ligand recognition and signaling efficiency |
| rs3775073 (intronic) | intron variant | 0.15 | Associated with asthma risk |
| rs6531666 (3' UTR) | UTR variant | 0.20 | Potential effect on mRNA stability |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense or frameshift mutations in TLR6 are predicted to cause loss of function, impairing TLR2/6 heterodimer formation and reducing response to diacylated lipopeptides.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for TLR6.
Dominant Negative (DN)
Certain missense variants (e.g., S249P) may act in a dominant-negative manner by disrupting heterodimerization with TLR2.
View complete mutation data:
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • signal transduction (GO:0007165) |
| • inflammatory response (GO:0006954) | • innate immune response (GO:0045087) |
| • toll-like receptor signaling pathway (GO:0002224) | • integral component of membrane (GO:0016021) |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• MyD88-dependent cascade (Reactome: R-HSA-166058)
• NF-κB activation (Reactome: R-HSA-168164)
Protein Summary
TLR6 is a type I transmembrane protein with an extracellular leucine-rich repeat (LRR) domain responsible for ligand recognition and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain that initiates signaling. It forms functional heterodimers with TLR2 to detect diacylated lipopeptides from bacteria and mycoplasma. Upon ligand binding, the TLR2/6 complex recruits adaptor proteins such as MyD88, leading to activation of NF-κB and MAP kinases, which induce pro-inflammatory cytokines. TLR6 is expressed on the cell surface and in endosomes, and its expression is regulated by microbial stimuli and inflammatory mediators.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLR6 Knockout HEK293 Cell Line | EDJ-KQ7010 | Human | 10333 | Details Get a Quote |
| TLR6 Knockout HCT 116 Cell Line | EDJ-KQ30372 | Human | 10333 | Details Get a Quote |
| TLR6 Knockout A-549 Cell Line | EDJ-KQ31747 | Human | 10333 | Details Get a Quote |
| TLR6 Knockout HeLa Cell Line | EDJ-KQ31748 | Human | 10333 | Details Get a Quote |
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