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    TLR8 toll like receptor 8 [ Homo sapiens (human) ]

    Gene ID: 51311, updated on 17-Jun-2024

    Summary

    Official Symbol
    TLR8provided by HGNC
    Official Full Name
    toll like receptor 8provided by HGNC
    Primary source
    HGNC:HGNC:15632
    See related
    Ensembl:ENSG00000101916 MIM:300366; AllianceGenome:HGNC:15632
    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
    CD288; IMD98; TLR-8; hTLR8
    Summary
    The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in appendix (RPKM 10.8), spleen (RPKM 6.1) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TLR8 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (12906620..12923169)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (12488083..12504631)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (12924739..12941288)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L35 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29414 Neighboring gene toll like receptor 7 Neighboring gene Sharpr-MPRA regulatory region 5588 Neighboring gene TLR8 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chrX.229 Neighboring gene Sharpr-MPRA regulatory region 4636 Neighboring gene CRISPRi-validated cis-regulatory element chrX.231 Neighboring gene CRISPRi-validated cis-regulatory element chrX.232 Neighboring gene CRISPRi-validated cis-regulatory element chrX.233 Neighboring gene CRISPRi-validated cis-regulatory element chrX.234 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:12982027-12982688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29422 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:12992269-12993108 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:12993948-12994786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29423 Neighboring gene CRISPRi-validated cis-regulatory element chrX.239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29424 Neighboring gene CRISPRi-validated cis-regulatory element chrX.240 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:13005300-13005496 Neighboring gene thymosin beta 4 X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29430 Neighboring gene family with sequence similarity 9 member C

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency 98 with autoinflammation, X-linked
    MedGen: C5676883 OMIM: 301078 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Treatment of macrophages (24 hours) with purified HIV-1 and shTLR8 indicate that HIV-1 activates TLR8 to induce autophagy at early timepoints post-HIV exposure PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Combined activation of TLR7/8 and TLR9 by TLR7/8 and TLR9 agonists induces the highest titers of binding, neutralizing, and antibody-dependent cellular cytotoxicity-mediating antibodies against HIV-1 Env/gp140 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

    Clone Names

    • MGC119599, MGC119600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables single-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immunoglobulin mediated immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in toll-like receptor 8 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in toll-like receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012882.2 RefSeqGene

      Range
      5001..21550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016610.4NP_057694.2  toll-like receptor 8 isoform 1

      See identical proteins and their annotated locations for NP_057694.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB445666, AF246971, AK314240, AY358296
      Consensus CDS
      CCDS14153.1
      UniProtKB/TrEMBL
      A0AA49X8T4, Q495P6, Q495P7
      Related
      ENSP00000312082.5, ENST00000311912.5
      Conserved Domains (5) summary
      smart00082
      Location:790835
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8981040
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:504719
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:504524
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:657718
      LRR_8; Leucine rich repeat
    2. NM_138636.5NP_619542.1  toll-like receptor 8 isoform 2 precursor

      See identical proteins and their annotated locations for NP_619542.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AC005859, AC139705, KC877963
      Consensus CDS
      CCDS14152.1
      UniProtKB/Swiss-Prot
      B3Y654, D1CS70, D1CS76, Q495P4, Q6UXL6, Q9NR97, Q9NYG9
      UniProtKB/TrEMBL
      Q495P6, Q495P7
      Related
      ENSP00000218032.7, ENST00000218032.7
      Conserved Domains (5) summary
      smart00082
      Location:772817
      LRRCT; Leucine rich repeat C-terminal domain
      smart00255
      Location:8801022
      TIR; Toll - interleukin 1 - resistance
      cd00116
      Location:486701
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:486506
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:639700
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      12906620..12923169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      12488083..12504631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)