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TLR7

Chr Xp22.2

toll like receptor 7

MANE:
ENST00000380659.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Familial Meniere Disease

Disease associations (Open Targets)

  • systemic lupus erythematosus

    0.72
  • rheumatoid arthritis

    0.62
  • immunodeficiency 74, COVID-19-related, X-linked

    0.61
  • actinic keratosis

    0.58
  • systemic lupus erythematosus 17

    0.58
  • basal cell carcinoma

    0.57
  • malaria

    0.57
  • keratosis

    0.54
  • anogenital human papillomavirus infection

    0.52
  • cutaneous lupus erythematosus

    0.45

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Toll-like receptor 7

Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:14976261, PubMed:32433612). Controls host immune response against pathogens through recognition of uridine-containing single strand RNAs (ssRNAs) of viral origin or guanosine analogs (PubMed:12738885, PubMed:27742543, PubMed:31608988, PubMed:32706371, PubMed:35477763). Upon binding to agonists, undergoes dimerization that brings TIR domains from the two molecules into direct contact, leading to the recruitment of TIR-containing downstream adapter MYD88 through homotypic interaction (PubMed:27742543). In turn, the Myddosome signaling complex is formed involving IRAK4, IRAK1, TRAF6, TRAF3 leading to activation of downstream transcription factors NF-kappa-B and IRF7 to induce pro-inflammatory cytokines and interferons, respectively (PubMed:27742543, PubMed:32706371). In plasmacytoid dendritic cells, RNASET2 endonuclease cooperates with PLD3 or PLD4 5'->3' exonucleases to process RNA and release 2',3'-cyclic guanosine monophosphate (2',3'-cGMP) and cytidine-rich RNA fragments that occupy TLR7 ligand-binding pockets and trigger a signaling-competent state

Curated MONDO disease pages that list TLR7 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.