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MYD88

Chr 3p22.2

MYD88 innate immune signal transduction adaptor

MANE:
ENST00000650905.2
OMIM: 602170 ↗NCBI: 4615 ↗Ensembl ↗

Annotations refreshed 1 month 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

  • Cytopenias and congenital anaemias

  • Familial Meniere Disease

Disease associations (Open Targets)

  • pyogenic bacterial infections due to MyD88 deficiency

    0.73

  • B-cell chronic lymphocytic leukemia

    0.69

  • diffuse large B-cell lymphoma

    0.65

  • lymphoid leukemia

    0.52

  • inborn error of immunity

    0.50

  • Waldenstrom macroglobulinemia

    0.47

  • primary central nervous system lymphoma

    0.39

  • Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

    0.39

  • B-cell non-Hodgkin lymphoma

    0.38

  • lymphoplasmacytic lymphoma

    0.38

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

Protein function (UniProt)

Myeloid differentiation primary response protein MyD88

Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response (PubMed:15361868, PubMed:18292575, PubMed:33718825, PubMed:37971847). Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:15361868, PubMed:19506249, PubMed:24316379, PubMed:40638072). Increases IL-8 transcription (PubMed:9013863). Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. Upon TLR8 activation by GU-rich single-stranded RNA (GU-rich RNA) derived from viruses such as SARS-CoV-2, SARS-CoV and HIV-1, induces IL1B release through NLRP3 inflammasome activation (PubMed:33718825). MyD88-mediated signaling in intestinal epithelial cells is crucial for maintenance of gut homeostasis and controls the expression of the antimicrobial lectin REG3G in the small intestine (By similarity)

Diseases associated with MYD88

Curated MONDO disease pages that list MYD88 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.