TLR6

Chr 4

toll like receptor 6

Also known as: CD286

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]

OMIMResearchGenerating clinical summary…
1
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.10
OE 0.51 (0.320.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.94Z-score
OE missense 0.87 (0.790.95)
347 obs / 399.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.320.85)
00.351.4
Missense OE?0.87 (0.790.95)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 11 / 21.5Missense obs/exp: 347 / 399.7Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TLR6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.