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TIRAP

Chr 11q24.2

TIR domain containing adaptor protein

Aliases:
Mal, wyatt
MANE:
ENST00000392679.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • inborn error of immunity

    0.37
  • neurodegenerative disease

    0.23
  • Sepsis

    0.08
  • non-small cell lung carcinoma

    0.08
  • hepatocellular carcinoma

    0.07
  • tuberculosis

    0.06
  • response to statin

    0.06
  • systemic lupus erythematosus

    0.06
  • nephritis

    0.05
  • myelodysplastic syndrome

    0.04

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

Protein function (UniProt)

Toll/interleukin-1 receptor domain-containing adapter protein

Adapter involved in TLR2, TLR4 and RAGE signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF (TNF) and interleukin-6 (IL6)

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.