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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
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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)

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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)