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, a... See more...

Aliases for TLR3 Gene

Aliases for TLR3 Gene

  • Toll Like Receptor 3 2 3 5
  • Toll-Like Receptor 3 2 3 4
  • CD283 2 3
  • CD283 Antigen 4
  • IIAE2 3
  • TLR3 5

External Ids for TLR3 Gene

Previous GeneCards Identifiers for TLR3 Gene

  • GC04P188024
  • GC04P187670
  • GC04P187574
  • GC04P187686
  • GC04P187365
  • GC04P187227
  • GC04P186990
  • GC04P182742

Summaries for TLR3 Gene

Entrez Gene Summary for TLR3 Gene

  • 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 may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TLR3 Gene

TLR3 (Toll Like Receptor 3) is a Protein Coding gene. Diseases associated with TLR3 include Encephalopathy, Acute, Infection-Induced 2 and Human Immunodeficiency Virus Type 1. Among its related pathways are NF-KappaB Family Pathway and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include identical protein binding and transmembrane signaling receptor activity. An important paralog of this gene is TLR7.

UniProtKB/Swiss-Prot Summary for TLR3 Gene

  • Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response.

Tocris Summary for TLR3 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLR3 Gene

Genomics for TLR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TLR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J186067 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.3 -297 2.4 CTCF PRDM10 ZNF7 PRDM1 RAD21 IRF2 SP1 YY1 SMC3 ZBTB17 TLR3 piR-52261-209 SORBS2
GH04J186143 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 +75.7 75680 2.1 ZNF692 ZIC2 POLR2A PATZ1 ZNF600 ZFX MNT ZBTB20 UBTF CTCF FAM149A 5EW4_A-040 CYP4V2 TLR3 HSALNG0039149
GH04J186150 Promoter/Enhancer 0.8 Ensembl ENCODE 10.7 +81.1 81079 0.3 CTCF ZNF143 NR2F2 IKZF1 RAD21 XRCC5 HSALNG0039149 FAM149A ENSG00000253013 CYP4V2 TLR3 NONHSAG039535.2
GH04J186028 Enhancer 0.8 ENCODE CraniofacialAtlas 10 -38.4 -38426 4.4 CTCF REST ZIC2 POLR2A SP1 YY1 JUND NR2F2 ZNF189 RAD21 TLR3 CFAP97 RF00015-057 RNU4-64P HSALNG0039138 SORBS2
GH04J185835 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 5.3 -230.2 -230234 6.9 GATAD2A TEAD4 ZNF629 SOX13 FOXA1 ZIC2 CEBPA ZNF561 ZBTB44 SP1 SORBS2 TLR3 CCDC110 RPSAP70 RF00017-4480 ENSG00000285745 lnc-PDLIM3-6 PDLIM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLR3

Top Transcription factor binding sites by QIAGEN in the TLR3 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for TLR3 Gene

Genomic Locations for TLR3 Gene
chr4:186,069,155-186,088,073
(GRCh38/hg38)
Size:
18,919 bases
Orientation:
Plus strand
chr4:186,990,306-187,009,223
(GRCh37/hg19)
Size:
18,918 bases
Orientation:
Plus strand

Genomic View for TLR3 Gene

Genes around TLR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLR3 Gene

Proteins for TLR3 Gene

  • Protein details for TLR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15455-TLR3_HUMAN
    Recommended name:
    Toll-like receptor 3
    Protein Accession:
    O15455
    Secondary Accessions:
    • B2RAI7
    • B7Z7K0
    • E6Y0F0
    • E6Y0F1
    • E9PGH4
    • Q4VAL2
    • Q504W0

    Protein attributes for TLR3 Gene

    Size:
    904 amino acids
    Molecular mass:
    103829 Da
    Quaternary structure:
    • Monomer and homodimer; dimerization is triggered by ligand-binding, the signaling unit is composed of one ds-RNA of around 40 bp and two TLR3 molecules, and lateral clustering of signaling units along the length of the ds-RNA ligand is required for TLR3 signal transduction. Interacts (via transmembrane domain) with UNC93B1; the interaction is required for transport from the ER to the endosomes. Interacts with SRC; upon binding of double-stranded RNA. Interacts with TICAM1 (via the TIR domain) in response to poly(I:C) and this interaction is enhanced in the presence of WDFY1 (PubMed:25736436). The tyrosine-phosphorylated form (via TIR domain) interacts with WDFY1 (via WD repeat 2) in response to poly(I:C) (PubMed:25736436).

    Three dimensional structures from OCA and Proteopedia for TLR3 Gene

    Alternative splice isoforms for TLR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLR3 Gene

Post-translational modifications for TLR3 Gene

  • Heavily N-glycosylated, except on that part of the surface of the ectodomain that is involved in ligand binding.
  • TLR3 signaling requires a proteolytic cleavage mediated by cathepsins CTSB and CTSH, the cleavage occurs between amino acids 252 and 346. The cleaved form of TLR3 is the predominant form found in endosomes.
  • Glycosylation at Asn291, Asn52, Asn57, Asn70, Asn398, Asn124, Asn413, Asn196, Asn507, Asn247, Asn252, Asn265, Asn275, Asn636, and Asn662
  • Modification sites at PhosphoSitePlus

Other Protein References for TLR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TLR3

No data available for DME Specific Peptides for TLR3 Gene

Domains & Families for TLR3 Gene

Gene Families for TLR3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TLR3 Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, C-terminal
  • TIR domain
ProtoNet:

Suggested Antigen Peptide Sequences for TLR3 Gene

GenScript: Design optimal peptide antigens:
  • TLR3 (E6Y0F0_HUMAN)
  • TLR3 (E6Y0F1_HUMAN)
  • Toll-like receptor 3 (Q504W0_HUMAN)
  • TLR3 protein (Q6PCD4_HUMAN)
  • Toll-like receptor 3 (TLR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15455

UniProtKB/Swiss-Prot:

TLR3_HUMAN :
  • ds-RNA binding is mediated by LRR 1 to 3, and LRR 17 to 18.
  • Belongs to the Toll-like receptor family.
Domain:
  • ds-RNA binding is mediated by LRR 1 to 3, and LRR 17 to 18.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR3: view

Function for TLR3 Gene

Molecular function for TLR3 Gene

UniProtKB/Swiss-Prot Function:
Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response.
GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 3,with the major transcripts,predominantly expressed in placenta and pancreas,involved in immune defense

Phenotypes From GWAS Catalog for TLR3 Gene

Gene Ontology (GO) - Molecular Function for TLR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003725 double-stranded RNA binding IBA,NAS 12054664
GO:0004888 transmembrane signaling receptor activity NAS 12054664
GO:0005515 protein binding IPI 16858407
GO:0038023 signaling receptor activity TAS 10426995
genes like me logo Genes that share ontologies with TLR3: view
genes like me logo Genes that share phenotypes with TLR3: view

Human Phenotype Ontology for TLR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TLR3 Gene

MGI Knock Outs for TLR3:

Animal Model Products

  • Taconic Biosciences Mouse Models for TLR3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TLR3 Gene

Localization for TLR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR3 Gene

Endoplasmic reticulum membrane. Single-pass type I membrane protein. Endosome membrane. Early endosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLR3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
endosome 5
lysosome 5
extracellular 4
golgi apparatus 4
cytoskeleton 3
mitochondrion 3
peroxisome 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for TLR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IDA 19740627
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with TLR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLR3 Gene

Pathways & Interactions for TLR3 Gene

PathCards logo

SuperPathways for TLR3 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll-like Receptor Signaling Pathway
3 Toll-Like receptor Signaling Pathways
.33
4 Cytosolic sensors of pathogen-associated DNA
5 Diseases associated with the TLR signaling cascade
genes like me logo Genes that share pathways with TLR3: view

Pathways by source for TLR3 Gene

1 Tocris pathway for TLR3 Gene
9 Qiagen pathways for TLR3 Gene
  • Colorectal Cancer Metastasis
  • NF-KappaB (p50-p65) Pathway
  • NF-KappaB Family Pathway
  • Phagocytosis of Microbes
  • Tec Kinases Signaling
1 Cell Signaling Technology pathway for TLR3 Gene
1 GeneTex pathway for TLR3 Gene

SIGNOR curated interactions for TLR3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TLR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001774 microglial cell activation IEA --
GO:0001819 positive regulation of cytokine production IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0002730 regulation of dendritic cell cytokine production IEA --
genes like me logo Genes that share ontologies with TLR3: view

Drugs & Compounds for TLR3 Gene

(41) Drugs for TLR3 Gene - From: PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tyrosine Approved, Investigational Nutra 1044
Imiquimod Approved, Investigational Pharma Agonist TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist 163
Aspirin Approved, Vet_approved Pharma Channel blocker 1512
Pembrolizumab Approved Pharma 1266
Resiquimod Investigational Pharma Toll-like receptor 7 (TLR7) agonist 0

(13) Additional Compounds for TLR3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TLR3 Gene

Compound Action Cas Number
Imiquimod Toll-like receptor 7 (TLR7) agonist 99011-02-6
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9
RWJ 21757 Toll-like receptor 7 (TLR7) agonist 121288-39-9

(8) ApexBio Compounds for TLR3 Gene

Compound Action Cas Number
CU CPT 22 1416324-85-0
CU CPT 4a 1279713-77-7
Pam2CSK4 868247-72-7
Pam2CSK4 Biotin
Pam3CSK4 112208-00-1
Poly(I:C) 24939-03-5
RWJ 21757 121288-39-9
Toll-like receptor modulator TLR antagonist 926927-42-6
genes like me logo Genes that share compounds with TLR3: view

Transcripts for TLR3 Gene

mRNA/cDNA for TLR3 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLR3

Alternative Splicing Database (ASD) splice patterns (SP) for TLR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6
SP1: - -
SP2: -
SP3:

Relevant External Links for TLR3 Gene

GeneLoc Exon Structure for
TLR3

Expression for TLR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TLR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TLR3 Gene

This gene is overexpressed in Nasal epithelium (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TLR3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLR3

SOURCE GeneReport for Unigene cluster for TLR3 Gene:

Hs.657724

mRNA Expression by UniProt/SwissProt for TLR3 Gene:

O15455-TLR3_HUMAN
Tissue specificity: Expressed at high level in placenta and pancreas. Also detected in CD11c+ immature dendritic cells. Only expressed in dendritic cells and not in other leukocytes, including monocyte precursors. TLR3 is the TLR that is expressed most strongly in the brain, especially in astrocytes, glia, and neurons.

Evidence on tissue expression from TISSUES for TLR3 Gene

  • Lung(4.7)
  • Liver(4.7)
  • Nervous system(4.7)
  • Blood(3.9)
  • Spleen(3.8)
  • Lymph node(3.6)
  • Intestine(3.3)
  • Kidney(3.2)
  • Skin(3.1)
  • Heart(3.1)
  • Bone marrow(3.1)
  • Muscle(2.9)
  • Stomach(2.7)
  • Eye(2.7)
  • Pancreas(2.6)
  • Bone(2.5)
  • Adrenal gland(2.4)
  • Thyroid gland(2.3)
  • Saliva(2.2)
  • Urine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
Regions:
Head and neck:
  • brain
  • head
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with TLR3: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TLR3 Gene

Orthologs for TLR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TLR3 30 31
  • 99.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TLR3 30 31
  • 86.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TLR3 30 31
  • 83.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tlr3 30 17 31
  • 81.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tlr3 30
  • 80.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia TLR3 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TLR3 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TLR3 30 31
  • 66.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TLR3 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tlr3 30
  • 59.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii tlr3 30 31
  • 52.99 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Tollo 30
  • 42.12 (n)
CG9562 32
  • 26 (a)
CG5195 32
  • 23 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012385 30
  • 29.79 (n)
Worm
(Caenorhabditis elegans)
Secernentea C56E6.6 32
  • 24 (a)
Species where no ortholog for TLR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TLR3 Gene

ENSEMBL:
Gene Tree for TLR3 (if available)
TreeFam:
Gene Tree for TLR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLR3: view image

Paralogs for TLR3 Gene

(1) SIMAP similar genes for TLR3 Gene using alignment to 4 proteins:

  • TLR3_HUMAN
  • D6RA51_HUMAN
  • E9PGH4_HUMAN
  • Q6PCD4_HUMAN
genes like me logo Genes that share paralogs with TLR3: view

Variants for TLR3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TLR3 Gene

TLR3_HUMAN-O15455
The Phe-412 allele (dbSNP:rs3775291) occurs with a frequency of 30% in populations with European and Asian ancestry, and confers some natural resistance to HIV-1 infection.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLR3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
639925 Uncertain Significance: Herpes simplex encephalitis 1 186,083,064(+) G/A MISSENSE_VARIANT
639936 Uncertain Significance: Herpes simplex encephalitis 1 186,083,245(+) A/G MISSENSE_VARIANT
641316 Uncertain Significance: Herpes simplex encephalitis 1 186,083,460(+) G/A MISSENSE_VARIANT
641529 Uncertain Significance: Herpes simplex encephalitis 1 186,084,057(+) A/G MISSENSE_VARIANT
643822 Uncertain Significance: Herpes simplex encephalitis 1 186,083,614(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TLR3 Gene

Structural Variations from Database of Genomic Variants (DGV) for TLR3 Gene

Variant ID Type Subtype PubMed ID
dgv1052e214 CNV gain 21293372
dgv683n27 CNV gain 19166990
dgv9426n54 CNV gain 21841781
esv2677545 CNV deletion 23128226
esv3603516 CNV gain 21293372
esv3603517 CNV gain 21293372
esv3603520 CNV loss 21293372
esv3894090 CNV gain 25118596
nsv1015236 CNV gain 25217958
nsv1028146 CNV gain 25217958
nsv1031258 CNV gain 25217958
nsv470097 CNV gain 18288195

Variation tolerance for TLR3 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.64; 89.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLR3 Gene

Human Gene Mutation Database (HGMD)
TLR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR3

SNP Genotyping and Copy Number Assay Products

Disorders for TLR3 Gene

MalaCards: The human disease database

(117) MalaCards diseases for TLR3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
encephalopathy, acute, infection-induced 2
  • encephalopathy, acute, infection-induced , susceptibility to, 2
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
herpes simplex encephalitis
  • herpes simplex meningo-encephalitis
encephalitis
herpes simplex
  • herpesvirus hominis disease
- elite association - COSMIC cancer census association via MalaCards
Search TLR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TLR3_HUMAN
  • Encephalopathy, acute, infection-induced, Herpes-specific, 2 (IIAE2) [MIM:613002]: A rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. It is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. {ECO:0000269 PubMed:17872438}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. TLR3 mutations predispose otherwise healthy individuals to isolated herpes simplex encephalitis through a mechanism that involves impaired IFNs production and reduced immune defense against viral infection in the central nervous system.

Additional Disease Information for TLR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TLR3: view

No data available for Genatlas for TLR3 Gene

Publications for TLR3 Gene

  1. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. (PMID: 18753640) Yang Z … Zhang K (The New England journal of medicine 2008) 3 4 23 41
  2. Investigation of the [-/A]8 and C1236T genetic variations within the human Toll-like receptor 3 gene for association with multiple sclerosis. (PMID: 20483009) Szvetko AL … Griffiths LR (Neurological research 2010) 3 23 41
  3. TLR3 gene polymorphisms and liver disease manifestations in chronic hepatitis C. (PMID: 19475618) Askar E … Mihm S (Journal of medical virology 2009) 3 23 41
  4. Polymorphisms in toll-like receptor 4 and toll-like receptor 9 influence viral load in a seroincident cohort of HIV-1-infected individuals. (PMID: 19855253) Pine SO … Bochud PY (AIDS (London, England) 2009) 3 23 41
  5. Single-nucleotide polymorphisms in genes encoding toll-like receptor -2, -3, -4, and -9 in case-control study with breast cancer. (PMID: 19810822) Etokebe GE … Dembić Z (Genetic testing and molecular biomarkers 2009) 3 23 41

Products for TLR3 Gene

  • Addgene plasmids for TLR3

Sources for TLR3 Gene