TLR3 Chromosome 4
Toll like receptor 3
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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. 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 is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
Gene Info
Gene Group
"CD molecules|Toll like receptors"
Locus Type
gene with protein product
Location
4q35.1
Ensembl
ENSG00000164342
Associated Conditions (7)
Herpes simplex encephalitis
susceptibility to
1
Immunodeficiency 83
susceptibility to viral infections
Susceptibility to HIV infection
Multisystem inflammatory syndrome in children
Key Variants
RS1005040113
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS143625567
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS144596374
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS35311343
Conflicting classifications of pathogenicity
Immunodeficiency 83, susceptibility to viral infections, Herpes simplex encephalitis
Health Risk
RS745646456
Conflicting classifications of pathogenicity
Herpes simplex encephalitis, susceptibility to, 1
Health Risk
RS1554064929
risk factor
Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83
Health Risk
RS2150068111
risk factor
Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83
Health Risk
RS768091235
risk factor
Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1005040113 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS143625567 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS144596374 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS35311343 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 83, susceptibility to viral infections, Herpes simplex encephalitis |
| RS745646456 | Health Risk | Conflicting classifications of pathogenicity | Herpes simplex encephalitis, susceptibility to, 1 |
| RS1554064929 | Health Risk | risk factor | Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83 |
| RS2150068111 | Health Risk | risk factor | Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83 |
| RS768091235 | Health Risk | risk factor | Immunodeficiency 83, susceptibility to viral infections, Immunodeficiency 83 |