Gene Gene information from NCBI Gene database.
Entrez ID 4615
Gene name MYD88 innate immune signal transduction adaptor
Gene symbol MYD88
Synonyms (NCBI Gene)
IMD68MYD88DWM1
Chromosome 3
Chromosome location 3p22.2
Summary This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways reg
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs137853064 C>A,G,T Pathogenic Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs387907272 T>C Likely-pathogenic, uncertain-significance, pathogenic Stop lost, missense variant, coding sequence variant, terminator codon variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
297
miRTarBase ID miRNA Experiments Reference
MIRT007368 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 23522925
MIRT007368 hsa-miR-203a-3p Luciferase reporter assayqRT-PCRWestern blot 23522925
MIRT020533 hsa-miR-155-5p Western blot 21030878
MIRT054356 hsa-miR-21-5p ChipELISAFlow cytometryLuciferase reporter assayQRTPCRWestern blot 23633945
MIRT438020 hsa-miR-149-5p ELISAqRT-PCRWestern blot 24375488
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
STAT3 Unknown 12244150
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
134
GO ID Ontology Definition Evidence Reference
GO:0002238 Process Response to molecule of fungal origin IEA
GO:0002269 Process Leukocyte activation involved in inflammatory response IEA
GO:0002283 Process Neutrophil activation involved in immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602170 7562 ENSG00000172936
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99836
Protein name Myeloid differentiation primary response protein MyD88
Protein function 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
PDB 2JS7 , 2Z5V , 3MOP , 4DOM , 4EO7 , 6I3N , 7BEQ , 7BER , 7L6W , 8S78 , 8W8M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 30 107 Death domain Domain
PF01582 TIR 163 295 TIR domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:8957090}.
Sequence
Sequence length 296
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
NF-kappa B signaling pathway
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
Alcoholic liver disease
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
African trypanosomiasis
Malaria
Toxoplasmosis
Tuberculosis
Hepatitis B
Measles
Influenza A
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis
  ER-Phagosome pathway
PIP3 activates AKT signaling
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
RIP-mediated NFkB activation via ZBP1
p75NTR recruits signalling complexes
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
MyD88 deficiency (TLR2/4)
MyD88 deficiency (TLR5)
IRAK4 deficiency (TLR5)
IRAK4 deficiency (TLR2/4)
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Interleukin-1 signaling
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 dependent cascade initiated on endosome
MyD88 cascade initiated on plasma membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
144
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pyogenic bacterial infections due to MyD88 deficiency Pathogenic; Likely pathogenic rs765198848, rs2125777824, rs2471593660, rs137853065, rs878852993 RCV001784687
RCV002016128
RCV003066168
RCV000007925
RCV000007923
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Macroglobulinemia, Waldenstrom, somatic Uncertain significance rs387907272 RCV000030709
Malignant lymphoma, large B-cell, diffuse Uncertain significance rs387907272 RCV003315524
MYD88-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs201871349, rs564488349, rs746651350, rs79867863, rs143752366 RCV003952611
RCV003943815
RCV003942820
RCV003905746
RCV003967990
Neoplasm Uncertain significance rs387907272 RCV004668744
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aggressive Periodontitis Associate 28883894
Alcoholism Associate 34415075
Anemia Hemolytic Autoimmune Associate 25819228
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 37137530
Arthralgia Associate 28381754
Arthritis Rheumatoid Associate 17255320, 31320744, 36405992, 36614150, 37749630
Asthma Stimulate 35190755
Asthma Associate 37717070, 38367422
Atherosclerosis Associate 34020127, 36733418
Atrial Fibrillation Associate 29595637