TLR2

Chr 4ADSomatic

toll like receptor 2

Also known as: CD282, TIL4

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. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Colorectal cancer, susceptibility to}MIM #114500
ADSomatic
{Leprosy, susceptibility to}MIM #246300
AD
{Mycobacterium tuberculosis, susceptibility to}MIM #607948
2
Active trials
1349
Pubs (1 yr)
P/LP submissions
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.80
OE 0.59 (0.380.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.41Z-score
OE missense 0.94 (0.871.03)
380 obs / 403.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.380.93)
00.351.4
Missense OE?0.94 (0.871.03)
00.61.4
Synonymous OE?0.91
01.21.6
LoF obs/exp: 13 / 22.1Missense obs/exp: 380 / 403.0Syn Z: 0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TLR2 · protein map & ClinVar variants

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