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 regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-t... See more...

Aliases for MYD88 Gene

Aliases for MYD88 Gene

  • MYD88 Innate Immune Signal Transduction Adaptor 2 3 5
  • Myeloid Differentiation Primary Response Protein MyD88 3 4
  • Myeloid Differentiation Primary Response Gene (88) 2 3
  • Myeloid Differentiation Primary Response 88 2 3
  • Mutant Myeloid Differentiation Primary Response 88 3
  • MYD88D 3
  • IMD68 3
  • MYD88 5

External Ids for MYD88 Gene

Previous GeneCards Identifiers for MYD88 Gene

  • GC03P037467
  • GC03M038006
  • GC03P037993
  • GC03P038140
  • GC03P038155

Summaries for MYD88 Gene

Entrez Gene Summary for MYD88 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 regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

CIViC Summary for MYD88 Gene

GeneCards Summary for MYD88 Gene

MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) is a Protein Coding gene. Diseases associated with MYD88 include Immunodeficiency 68 and Macroglobulinemia, Waldenstrom 1. Among its related pathways are IL-1 signaling pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include identical protein binding and death receptor binding.

UniProtKB/Swiss-Prot Summary for MYD88 Gene

  • Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response (PubMed:15361868, PubMed:18292575). Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:15361868, PubMed:24316379, PubMed:19506249). 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. 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).

Gene Wiki entry for MYD88 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYD88 Gene

Genomics for MYD88 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYD88 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J038129 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -3.6 -3618 11.5 ZSCAN16 TBP ZBTB10 SP1 MXD4 CEBPA FOXA1 MNT IKZF1 BRCA1 ACAA1 MYD88 lnc-PLCD1-1 piR-53275-004 WDR48 OXSR1 HSALNG0025215 piR-44757 DLEC1
GH03J038164 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.3 +28.9 28887 7.7 CHD2 TBP SP1 MXD4 FEZF1 NR2C1 MNT IKZF1 BRCA1 SMAD5 OXSR1 LOC101928234 lnc-ACAA1-2 GORASP1 C3orf35 ACAA1 MYD88 SLC22A13 ACVR2B-AS1 VILL
GH03J038147 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +10.7 10736 12.8 CEBPA IKZF1 IRF2 HES1 ZNF217 CTCF CEBPB REST NBN MAFF GORASP1 VILL MYD88 OXSR1 ACAA1 C3orf35 SLC22A13 PLCD1 MF281454 lnc-ACAA1-2
GH03J038163 Enhancer 0.7 ENCODE dbSUPER 12.6 +24.9 24867 0.2 VEZF1 CTCF FOXM1 ZBTB33 NR2F6 GATAD2A CHAMP1 HMBOX1 OXSR1 MYD88 ACAA1 LOC101928234 lnc-ACAA1-2 MF281454
GH03J038102 Enhancer 0.6 FANTOM5 Ensembl 14 -35.9 -35877 2.4 HDAC2 KDM1A MYD88 VILL ACAA1 SLC22A13 DLEC1 PLCD1 OXSR1 SLC22A14 HSALNG0025208 HSALNG0025210
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYD88 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYD88

Top Transcription factor binding sites by QIAGEN in the MYD88 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • IRF-1
  • STAT3

Genomic Locations for MYD88 Gene

Latest Assembly
chr3:38,138,478-38,143,022
(GRCh38/hg38)
Size:
4,545 bases
Orientation:
Plus strand

Previous Assembly
chr3:38,180,152-38,184,513
(GRCh37/hg19 by Entrez Gene)
Size:
4,362 bases
Orientation:
Plus strand

chr3:38,179,969-38,184,513
(GRCh37/hg19 by Ensembl)
Size:
4,545 bases
Orientation:
Plus strand

Genomic View for MYD88 Gene

Genes around MYD88 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYD88 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYD88 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYD88 Gene

Proteins for MYD88 Gene

  • Protein details for MYD88 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99836-MYD88_HUMAN
    Recommended name:
    Myeloid differentiation primary response protein MyD88
    Protein Accession:
    Q99836
    Secondary Accessions:
    • B4DKH8
    • B4DKU4
    • B4DQ60
    • B4DQ72
    • J3KPU4
    • J3KQ87
    • J3KQJ6
    • P78397
    • Q53XS7

    Protein attributes for MYD88 Gene

    Size:
    296 amino acids
    Molecular mass:
    33233 Da
    Quaternary structure:
    • Homodimer. Also forms heterodimers with TIRAP. Binds to TLR2, TLR4, TLR5, IRAK1, IRAK2 and IRAK4 via their respective TIR domains. Interacts with IL18R1. Interacts with BMX, IL1RL1, IKBKE and IRF7. Interacts with LRRFIP1 and LRRFIP2; this interaction positively regulates Toll-like receptor (TLR) signaling in response to agonist. Interacts with FLII. LRRFIP1 and LRRFIP2 compete with FLII for MYD88-binding. Interacts with IRF1. Upon IL1B treatment, forms a complex with PELI1, IRAK1, IRAK4 and TRAF6; this complex recruits MAP3K7/TAK1, TAB1 and TAB2 to mediate NF-kappa-B activation. Direct binding of SMAD6 to PELI1 prevents the complex formation and hence negatively regulates IL1R-TLR signaling and eventually NF-kappa-B-mediated gene expression. May interact with PIK3AP1. Interacts (via TIR domain) with DHX9 (via H2A and OB-fold regions); this interaction is direct (PubMed:20696886). Interacts with OTUD4 deubiquitinase; the interaction is direct (PubMed:29395066).
    • (Microbial infection) In case of infection, interacts with uropathogenic E.coli protein TcpC; suppressing Toll-like receptor (TLR)-mediated cytokine production.
    • (Microbial infection) In case of infection, interacts with uropathogenic E.faecalis protein TcpF; suppressing Toll-like receptor (TLR)-mediated cytokine production.
    SequenceCaution:
    • Sequence=BAG60822.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG60834.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=EAW64521.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYD88 Gene

    Alternative splice isoforms for MYD88 Gene

neXtProt entry for MYD88 Gene

Post-translational modifications for MYD88 Gene

  • Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination. OTUD4 specifically hydrolyzes 'Lys-63'-linked polyubiquitinated MYD88.
  • Ubiquitination at Lys95, Lys119, Lys231, and Lys282
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for MYD88

No data available for DME Specific Peptides for MYD88 Gene

Domains & Families for MYD88 Gene

Gene Families for MYD88 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYD88 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59950, highly similar to Myeloid differentiation primary response protein MyD88 (B4DQ60_HUMAN)
  • cDNA FLJ59951, highly similar to Myeloid differentiation primary response protein MyD88 (B4DQ72_HUMAN)
  • Myeloid differentiation primary response protein MyD88 (MYD88_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99836

UniProtKB/Swiss-Prot:

MYD88_HUMAN :
  • The intermediate domain (ID) is required for the phosphorylation and activation of IRAK.
Domain:
  • The intermediate domain (ID) is required for the phosphorylation and activation of IRAK.
genes like me logo Genes that share domains with MYD88: view

Function for MYD88 Gene

Molecular function for MYD88 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response (PubMed:15361868, PubMed:18292575). Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:15361868, PubMed:24316379, PubMed:19506249). 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. 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).
GENATLAS Biochemistry:
myeloid differentiation primary response gene,88,binding the cytoplasmic tail of TLR proteins leading to their activation,initiating an intracellular signaling pathway to NFKB and its target genes

Phenotypes From GWAS Catalog for MYD88 Gene

Gene Ontology (GO) - Molecular Function for MYD88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005121 Toll binding IEA --
GO:0005123 death receptor binding TAS 9374458
GO:0005149 interleukin-1 receptor binding IEA --
GO:0005515 protein binding IPI 10880445
genes like me logo Genes that share ontologies with MYD88: view
genes like me logo Genes that share phenotypes with MYD88: view

Human Phenotype Ontology for MYD88 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYD88 Gene

MGI Knock Outs for MYD88:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYD88

Clone products for research

  • Addgene plasmids for MYD88

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYD88 Gene

Localization for MYD88 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYD88 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYD88 gene
Compartment Confidence
nucleus 5
endosome 5
cytosol 5
plasma membrane 4
extracellular 4
mitochondrion 3
lysosome 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYD88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22155231
GO:0005737 cytoplasm IDA 22155231
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with MYD88: view

Pathways & Interactions for MYD88 Gene

PathCards logo

SuperPathways for MYD88 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Diseases associated with the TLR signaling cascade
3 Cytosolic sensors of pathogen-associated DNA
4 Toll-like Receptor Signaling Pathway
5 Toll-Like receptor Signaling Pathways
.42
.41
genes like me logo Genes that share pathways with MYD88: view

Pathways by source for MYD88 Gene

2 Sino Biological pathways for MYD88 Gene
10 GeneGo (Thomson Reuters) pathways for MYD88 Gene
  • Bacterial infections in CF airways
  • Cytokine production by Th17 cells in CF
  • Cytokine production by Th17 cells in CF (Mouse model)
  • IL-1 beta-dependent CFTR expression
  • Immune response Bacterial infections in normal airways
12 Qiagen pathways for MYD88 Gene
  • 14-3-3 Induced Apoptosis
  • IL-1 Pathway
  • iNOS Signaling
  • NF-KappaB (p50-p65) Pathway
  • NF-KappaB Family Pathway
1 Cell Signaling Technology pathway for MYD88 Gene
1 GeneTex pathway for MYD88 Gene

SIGNOR curated interactions for MYD88 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MYD88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002238 response to molecule of fungal origin IEA --
GO:0002376 immune system process IEA --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006909 phagocytosis IMP 30883606
genes like me logo Genes that share ontologies with MYD88: view

Drugs & Compounds for MYD88 Gene

(14) Drugs for MYD88 Gene - From: PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fentanyl Approved, Illicit, Investigational, Vet_approved Pharma 1308
ibrutinib Approved Pharma Kinase Inhibitors 0
ST 2825 Pharma Inhibitor of MyD88 dimerization 0

(10) Additional Compounds for MYD88 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for MYD88 Gene

Compound Action Cas Number
ST 2825 Inhibitor of MyD88 dimerization 894787-30-5
genes like me logo Genes that share compounds with MYD88: view

Transcripts for MYD88 Gene

mRNA/cDNA for MYD88 Gene

9 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYD88

Clone products for research

  • Addgene plasmids for MYD88

Alternative Splicing Database (ASD) splice patterns (SP) for MYD88 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: -
SP9:

Relevant External Links for MYD88 Gene

GeneLoc Exon Structure for
MYD88

Expression for MYD88 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYD88 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYD88 Gene

This gene is overexpressed in Whole Blood (x17.2).

Protein differential expression in normal tissues from HIPED for MYD88 Gene

This gene is overexpressed in Monocytes (13.1), Peripheral blood mononuclear cells (10.3), and Lymph node (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYD88 Gene



Protein tissue co-expression partners for MYD88 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYD88

SOURCE GeneReport for Unigene cluster for MYD88 Gene:

Hs.82116

mRNA Expression by UniProt/SwissProt for MYD88 Gene:

Q99836-MYD88_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MYD88 Gene

  • Blood(4.9)
  • Spleen(4.8)
  • Lymph node(4.7)
  • Pancreas(4.5)
  • Nervous system(4.4)
  • Intestine(3.8)
  • Lung(3.6)
  • Liver(3.5)
  • Kidney(3.4)
  • Bone marrow(3.4)
  • Heart(3.4)
  • Skin(3.2)
  • Stomach(3.2)
  • Muscle(3)
  • Eye(2.3)
  • Adrenal gland(2.2)
  • Bone(2.1)
  • Thyroid gland(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYD88 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • sinus
  • skull
Thorax:
  • lung
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MYD88: view

Orthologs for MYD88 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYD88 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYD88 30 31
  • 99.21 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYD88 30 31
  • 89.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYD88 30 31
  • 86.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYD88 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Myd88 30 17 31
  • 82.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myd88 30
  • 81.29 (n)
Chicken
(Gallus gallus)
Aves MYD88 30 31
  • 71.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYD88 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myd88 30
  • 66.54 (n)
Str.11893 30
African clawed frog
(Xenopus laevis)
Amphibia myd88-A 30
Zebrafish
(Danio rerio)
Actinopterygii myd88 30 31
  • 63.02 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MYD 30
  • 44.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Myd88 31
  • 15 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2481 31
  • 19 (a)
OneToOne
Species where no ortholog for MYD88 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYD88 Gene

ENSEMBL:
Gene Tree for MYD88 (if available)
TreeFam:
Gene Tree for MYD88 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYD88: view image

Paralogs for MYD88 Gene

No data available for Paralogs for MYD88 Gene

Variants for MYD88 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYD88 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
838237 Uncertain Significance: Myd88 deficiency 38,140,403(+) G/A
NM_002468.5(MYD88):c.479G>A (p.Arg160His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
846019 Uncertain Significance: Myd88 deficiency 38,139,969(+) C/A
NM_002468.5(MYD88):c.434C>A (p.Ala145Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
953721 Uncertain Significance: Myd88 deficiency 38,139,993(+) C/A
NM_002468.5(MYD88):c.458C>A (p.Pro153His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
958926 Uncertain Significance: Myd88 deficiency 38,138,671(+) G/A
NM_002468.5(MYD88):c.-30G>A
FIVE_PRIME_UTR
961630 Uncertain Significance: Myd88 deficiency 38,138,693(+) C/G
NM_002468.5(MYD88):c.-8C>G
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYD88 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYD88 Gene

Variant ID Type Subtype PubMed ID
esv3359602 CNV duplication 20981092

Variation tolerance for MYD88 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYD88 Gene

Human Gene Mutation Database (HGMD)
MYD88
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYD88

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYD88 Gene

Disorders for MYD88 Gene

MalaCards: The human disease database

(78) MalaCards diseases for MYD88 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 68
  • imd68
macroglobulinemia, waldenstrom 1
  • macroglobulinemia, waldenstrom, susceptibility to, 1
waldenstroem's macroglobulinemia
  • lymphoplasmacytic lymphoma with igm gammopathy
macroglobulinemia
  • primary macroglobulinemia
central nervous system lymphoma
  • microglioma
- elite association - COSMIC cancer census association via MalaCards
Search MYD88 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYD88_HUMAN
  • Immunodeficiency 68 (IMD68) [MIM:612260]: An autosomal recessive primary immunodeficiency characterized by life-threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood. {ECO:0000269 PubMed:18669862, ECO:0000269 PubMed:19506249, ECO:0000269 PubMed:21057262, ECO:0000269 PubMed:24316379}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Defects in MYD88 are frequently found in many hematological malignancies, such as activated B-cell type diffuse large B-cell lymphoma (ABC-DLBCL), Waldenstroem macroglobulinemia, cutaneous diffuse large B cell lymphoma (CBCL) and primary central nervous system lymphoma (PCNSL). {ECO:0000269 PubMed:21179087, ECO:0000269 PubMed:22931316}.

Additional Disease Information for MYD88

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYD88: view

No data available for Genatlas for MYD88 Gene

Publications for MYD88 Gene

  1. MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. (PMID: 22931316) Treon SP … Hunter ZR (The New England journal of medicine 2012) 3 4 74
  2. Oncogenically active MYD88 mutations in human lymphoma. (PMID: 21179087) Ngo VN … Staudt LM (Nature 2011) 3 4 74
  3. Modulation of TLR signaling by multiple MyD88-interacting partners including leucine-rich repeat Fli-I-interacting proteins. (PMID: 19265123) Dai P … Chen X (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4 23
  4. Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. (PMID: 19506249) Ohnishi H … Shirakawa M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  5. Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE. (PMID: 19254290) Tewfik MA … Desrosiers M (Allergy 2009) 3 23 41

Products for MYD88 Gene

  • Addgene plasmids for MYD88

Sources for MYD88 Gene