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    MYD88 MYD88 innate immune signal transduction adaptor [ Homo sapiens (human) ]

    Gene ID: 4615, updated on 27-Jan-2020

    Summary

    Official Symbol
    MYD88provided by HGNC
    Official Full Name
    MYD88 innate immune signal transduction adaptorprovided by HGNC
    Primary source
    HGNC:HGNC:7562
    See related
    Ensembl:ENSG00000172936 MIM:602170
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MYD88D
    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 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]
    Expression
    Ubiquitous expression in appendix (RPKM 32.5), bone marrow (RPKM 32.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See MYD88 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (38138661..38143022)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38179969..38184513)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DLEC1 cilia and flagella associated protein Neighboring gene uncharacterized LOC105377033 Neighboring gene acetyl-CoA acyltransferase 1 Neighboring gene uncharacterized LOC101928234 Neighboring gene oxidative stress responsive kinase 1 Neighboring gene cell division cycle 42 pseudogene Neighboring gene solute carrier family 22 member 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-induced IL-6 production depends on the activation of NFkappaB and the involvement of C/EBP-beta, TLR4, and MyD88 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    TIR domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Toll-like receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    death receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein self-association IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    3'-UTR-mediated mRNA stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Toll signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cellular response to oxidised low-density lipoprotein particle stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to Gram-positive bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    defense response to protozoan ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    interleukin-1-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cytokine production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-17 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-23 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    toll-like receptor 9 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    type I interferon signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    myeloid differentiation primary response protein MyD88
    Names
    mutant myeloid differentiation primary response 88
    myeloid differentiation primary response 88
    myeloid differentiation primary response gene (88)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016964.1 RefSeqGene

      Range
      5001..9545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_157

    mRNA and Protein(s)

    1. NM_001172566.2NP_001166037.2  myeloid differentiation primary response protein MyD88 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK298666, AP006309, BC013589, DA040090
      Consensus CDS
      CCDS54568.1
      Related
      ENSP00000497991.1, ENST00000650112.1
    2. NM_001172567.2NP_001166038.2  myeloid differentiation primary response protein MyD88 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK296570, AL832906, AP006309
      Consensus CDS
      CCDS54565.1
      Related
      ENSP00000391753.3, ENST00000421516.3
      Conserved Domains (2) summary
      smart00255
      Location:160304
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:29106
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    3. NM_001172568.2NP_001166039.2  myeloid differentiation primary response protein MyD88 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AK296570, AP006309, BC013589
      Consensus CDS
      CCDS54567.1
      Related
      ENSP00000401399.3, ENST00000417037.7
      Conserved Domains (2) summary
      smart00255
      Location:115251
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:29106
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88
    4. NM_001172569.3NP_001166040.2  myeloid differentiation primary response protein MyD88 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK298666, AP006309, BC013589
      Consensus CDS
      CCDS54566.1
      Related
      ENSP00000499012.1, ENST00000651800.1
    5. NM_001365876.1NP_001352805.1  myeloid differentiation primary response protein MyD88 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP006309
      Related
      ENSP00000498576.1, ENST00000652213.1
    6. NM_001365877.1NP_001352806.1  myeloid differentiation primary response protein MyD88 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP006309
    7. NM_001374787.1NP_001361716.1  myeloid differentiation primary response protein MyD88 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP006309
    8. NM_001374788.1NP_001361717.1  myeloid differentiation primary response protein MyD88 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP006309
    9. NM_002468.5NP_002459.3  myeloid differentiation primary response protein MyD88 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC013589, BP242808, BP339466
      Consensus CDS
      CCDS2674.2
      Related
      ENSP00000498360.1, ENST00000650905.1
      Conserved Domains (2) summary
      smart00255
      Location:160296
      TIR; Toll - interleukin 1 - resistance
      cd08312
      Location:29106
      Death_MyD88; Death domain of Myeloid Differentation primary response protein MyD88

    RNA

    1. NR_164663.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP006309

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      38138661..38143022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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