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FLASH GENE
Symbol TLR8 contributors: mct/npt/pgu - updated : 04-11-2016
HGNC name toll-like receptor 8
HGNC id 15632
Location Xp22.2      Physical location : 12.924.738 - 12.941.286
Synonym name
  • Drosophila transmembrane receptor Toll homolog 8
  • CD288 antigen
    • Synonym symbol(s) MGC119599, MGC119600, CD288
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text arranged in tandem with TLR7
    STRUCTURE 16.53 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    CLCN4 Xp22.31 chloride channel 4 MID1 Xp22.3 midline 1 (Opitz/BBB syndrome) HCCS Xp22.3-p22.2 holocytochrome c synthase (cytochrome c heme-lyase) ARHGAP6 Xp22.31 Rho GTPase activating protein 6 AMELX Xp22.31 amelogenin (X chromosome, amelogenesis imperfecta 1) LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B FLJ20514 Xp22.31 hypothetical protein FLJ20514 LOC286480 Xp22.31 similar to ubiquitin-conjugating enzyme UbcM2 GLRA2 Xp22.13 glycine receptor, alpha 2 LOC392428 X similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 FLJ34064 Xp22.31 hypothetical protein FLJ34064 MGC26706 Xp22.31 hypothetical protein MGC26706 ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3468 1249 1059 - 2000 11022120
    2 - 4216 111.8 1041 - 2000 11022120
    missing and internal exon, truncated N terminal
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Reproductivefemale systemoviduct   
     female systemuterus   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier liningendometrium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Blood/Hematopoieticmonocyte Homo sapiens
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extracellular part composed of 16 leucine-rich repeats (LRR)
  • a cysteine rich region
  • a transmembrane segment
  • a cytoplasmic domain
  • the TOLL homology domain (TH), common to Toll and IL1 receptors (also called TIR domain)
    • HOMOLOGY
    interspecies homolog to Drosophila transmembrane receptor Toll8
    Homologene
    FAMILY
  • Toll-like receptor family
    • CATEGORY immunity/defense , regulatory , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    text
  • transmembrane protein
  • localized to the early endosome and the ER but not to the late endosome or lysosome in human monocytes
    • basic FUNCTION
  • pathogen recognition and activation of innate immunity
  • activating an NF-kappa B signaling pathway
  • potential inducer of apoptosis and septic shock
  • could play a critical role in controlling immune responses to cancer and other diseases
  • involved in detection of virus
  • acting as the host sensors for human parechovirus 1, a single-stranded RNA (ssRNA) virus
  • play essential roles in generating innate immune responses, and are evolutionarily conserved across species
  • role for TLR8 as a suppressor of neurite outgrowth as well as an inducer of neuronal apoptosis, and found that TLR8 functions in neurons through an NF-kappaB-independent mechanism
  • implicated in the sequence-dependent detection of RNA oligonucleotides in immune cells
  • may confer susceptibility to asthma and related atopic disorders
  • having functions in the nervous system that are distinct from the classical role of TLRs in immunity
  • its activation may be an important, novel pathway for targeted treatment of Th1-mediated diseases, such as Crohn disease
  • with TLR7, activate similar signaling pathways that play different roles in dendritic cells maturation, depending on which TLR is triggered
  • mediates anti-viral immunity by recognizing ssRNA viruses, and triggers potent anti-viral and antitumor immune responses upon ligation by synthetic small molecular weight ligands
  • TLR7 and TLR8 on trophoblastic cells play an important role in the prevention of intrauterine HBV transmission by inhibiting HBV translocation across trophoblast
    • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS immunity/defense
    text apoptosis of infected cells
    PATHWAY
    metabolism
    signaling signal transduction
    I-kappaB kinase/NF-kappaB cascade signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FANCC (FANCC suppresses TNF production in mononuclear phagocytes by suppressing TLR8 activity and this particular function of FANCC is independent of its function in protecting the genome from cross-linking agents)
  • UNC93B1 physically associated with TLR8, similar to TLRs 3, 7, and 9, and played a critical role in TLR8-mediated signaling
  • TLR8, is involved in priming of human neutrophil ROS production by inducing the phosphorylation of NCF1 and MAPK14 and PIN1 is also involved in this process
  • TLR7/TLR8 activation in neutrophils impairs immune complex phagocytosis through shedding of FCGR2A
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in primary Sjogren syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS