TLR3

Chr 4ADAR

toll like receptor 3

Also known as: CD283, IIAE2, IMD83

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{HIV1 infection, resistance to}MIM #609423
{Immunodeficiency 83, susceptibility to viral infections}MIM #613002
ADAR
3
Active trials
515
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.41
OE 0.53 (0.360.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.51Z-score
OE missense 0.93 (0.861.01)
427 obs / 457.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.360.80)
00.351.4
Missense OE?0.93 (0.861.01)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 16 / 30.3Missense obs/exp: 427 / 457.9Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TLR3 · protein map & ClinVar variants

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