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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pyogenic bacterial infections due to MyD88 deficiency Pathogenic; Likely pathogenic rs765198848, rs2125777824, rs2471593660, rs137853065, rs878852993 RCV001784687
RCV002016128
RCV003066168
RCV000007925
RCV000007923
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHOLESTASIS, EXTRAHEPATIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSED MOOD Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 25159121
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29788922
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 19732721
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 21274885
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 23380077, 24444466, 25768255, 25900979, 27923841, 28496180, 28803429, 28847710, 29358175, 29871863, 31123031
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 19745833, 23666053
★☆☆☆☆
Found in Text Mining only
Amelogenesis imperfecta nephrocalcinosis Amelogenesis Imperfecta BEFREE 30979838
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Autoimmune Autoimmune hemolytic anemia Pubtator 25819228 Associate
★☆☆☆☆
Found in Text Mining only
Angina, Unstable Intermediate coronary syndrome BEFREE 15883205
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28938189
★☆☆☆☆
Found in Text Mining only