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

Gene ID: 51311, updated on 26-May-2016
Official Symbol
TLR8provided by HGNC
Official Full Name
toll like receptor 8provided by HGNC
Primary source
HGNC:HGNC:15632
See related
Ensembl:ENSG00000101916 HPRD:02296; MIM:300366; Vega:OTTHUMG00000021145
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
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]
Orthologs
Location:
Xp22
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (12906620..12923169)
105 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 toll like receptor 7 Neighboring gene TLR8 antisense RNA 1 Neighboring gene thymosin beta 4, X-linked Neighboring gene uncharacterized LOC105373133 Neighboring gene family with sequence similarity 9 member C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC119599, MGC119600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding TAS
Traceable Author Statement
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
drug binding IEA
Inferred from Electronic Annotation
more info
 
receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
single-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
MyD88-dependent toll-like receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
immunoglobulin mediated immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response NAS
Non-traceable Author Statement
more info
PubMed 
microglial cell activation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-alpha biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-beta biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-8 biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cytokine secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to virus IDA
Inferred from Direct Assay
more info
PubMed 
toll-like receptor 8 signaling pathway IEA
Inferred from Electronic Annotation
more info
 
toll-like receptor 9 signaling pathway TAS
Traceable Author Statement
more info
 
toll-like receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
endolysosome membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IC
Inferred by Curator
more info
PubMed 

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_016610.3NP_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/Swiss-Prot
    Q9NR97
    Related
    ENSP00000312082, OTTHUMP00000022929, ENST00000311912, OTTHUMT00000055783
    Conserved Domains (5) summary
    smart00082
    Location:790835
    LRRCT; Leucine rich repeat C-terminal domain
    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 ...
    pfam01582
    Location:9001038
    TIR; TIR domain
    pfam13855
    Location:706766
    LRR_8; Leucine rich repeat
    sd00033
    Location:504524
    LRR_RI; leucine-rich repeat [structural motif]
  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
    Q9NR97
    Related
    ENSP00000218032, OTTHUMP00000022930, ENST00000218032, OTTHUMT00000055784
    Conserved Domains (5) summary
    smart00082
    Location:772817
    LRRCT; Leucine rich repeat C-terminal domain
    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 ...
    pfam01582
    Location:8821020
    TIR; TIR domain
    pfam13855
    Location:688748
    LRR_8; Leucine rich repeat
    sd00033
    Location:486506
    LRR_RI; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545529.1XP_011543831.1  

    See identical proteins and their annotated locations for XP_011543831.1

    UniProtKB/Swiss-Prot
    Q9NR97
    Conserved Domains (5) summary
    smart00082
    Location:790835
    LRRCT; Leucine rich repeat C-terminal domain
    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 ...
    pfam01582
    Location:9001038
    TIR; TIR domain
    pfam13855
    Location:706766
    LRR_8; Leucine rich repeat
    sd00033
    Location:504524
    LRR_RI; leucine-rich repeat [structural motif]
  2. XM_011545530.1XP_011543832.1  

    See identical proteins and their annotated locations for XP_011543832.1

    UniProtKB/Swiss-Prot
    Q9NR97
    Conserved Domains (5) summary
    smart00082
    Location:790835
    LRRCT; Leucine rich repeat C-terminal domain
    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 ...
    pfam01582
    Location:9001038
    TIR; TIR domain
    pfam13855
    Location:706766
    LRR_8; Leucine rich repeat
    sd00033
    Location:504524
    LRR_RI; leucine-rich repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    12955183..12971731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)