TLR2 Chromosome 4

Toll like receptor 2
5 variants 5 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Toll like receptors"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000137462
Associated Conditions (7)
TLR2-related disorder
Colorectal cancer
Leprosy
susceptibility to
3
Mycobacterium tuberculosis
COVID-19–associated multisystem inflammatory syndrome in adults
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS116232047 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, Colorectal cancer, Leprosy
RS3804099 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, COVID-19–associated multisystem inflammatory syndrome in adults, TLR2-related disorder
RS3804100 Health Risk Conflicting classifications of pathogenicity TLR2-related disorder, COVID-19–associated multisystem inflammatory syndrome in adults, TLR2-related disorder
RS121917864 Health Risk risk factor Leprosy, susceptibility to, 3
RS5743708 Health Risk risk factor Mycobacterium tuberculosis, susceptibility to, Mycobacterium tuberculosis
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