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MYD88 (MYD88 innate immune signal transduction adaptor)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4615
Gene nameGene Name - the full gene name approved by the HGNC.
MYD88 innate immune signal transduction adaptor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MYD88
SynonymsGene synonyms aliases
IMD68, MYD88D, WM1
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007368 hsa-miR-203a-3p Luciferase reporter assay, qRT-PCR, Western blot 23522925
MIRT007368 hsa-miR-203a-3p Luciferase reporter assay, qRT-PCR, Western blot 23522925
MIRT020533 hsa-miR-155-5p Western blot 21030878
MIRT054356 hsa-miR-21-5p Chip, ELISA, Flow cytometry, Luciferase reporter assay, QRTPCR, Western blot 23633945
MIRT438020 hsa-miR-149-5p ELISA, qRT-PCR, Western blot 24375488
Transcription factors
Transcription factor Regulation Reference
STAT3 Unknown 12244150
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0002238 Process Response to molecule of fungal origin IEA
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS
GO:0005121 Function Toll binding IEA
GO:0005123 Function Death receptor binding TAS 9374458
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 296
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Anemia Normocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholestasis Cholestasis, Extrahepatic rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 28789951
Diffuse lymphoma Diffuse Large B-Cell Lymphoma rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 25049379
Hypertension Hypertensive disease rs13306026, rs13333226 27292124
Unknown
Disease name Disease term dbSNP ID References
Anorexia Anorexia
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Cranial nerve paralysis Cranial nerve palsies
Cryoglobulinemia Cryoglobulinemia

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