Version: 8.0.0
Date: Tue Jan 28 2025
TLR4
Homo sapiensHGNC:11850
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TLR4

Species
Homo sapiens
Symbol
TLR4
Name
toll like receptor 4
Synonyms
  • ARMD10
  • CD284
Biotype
protein coding gene
Automated Description
Enables several functions, including lipopolysaccharide binding activity; lipopolysaccharide immune receptor activity; and protein heterodimerization activity. Involved in several processes, including positive regulation of cytokine production; positive regulation of defense response; and response to lipopolysaccharide. Acts upstream of or within lipopolysaccharide-mediated signaling pathway and positive regulation of NF-kappaB transcription factor activity. Located in external side of plasma membrane; perinuclear region of cytoplasm; and phagocytic cup. Part of lipopolysaccharide receptor complex. Is active in endosome membrane and plasma membrane. Implicated in several diseases, including allergic contact dermatitis (multiple); artery disease (multiple); autoimmune disease (multiple); eye disease (multiple); and lung disease (multiple). Biomarker of several diseases, including autoimmune disease (multiple); eye disease (multiple); liver disease (multiple); middle ear disease (multiple); and tuberculosis (multiple).
RGD Description
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 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. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24373
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TLR4 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            TLR4 role
            TLR4 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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