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

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: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (12906620..12923169)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (12488083..12504631)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (12924739..12941288)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Toll-Like Receptor mRNA Levels in Schizophrenia: Association With Complement Factors and Cingulate Gyrus Cortical Thinning.
Title: Toll-Like Receptor mRNA Levels in Schizophrenia: Association With Complement Factors and Cingulate Gyrus Cortical Thinning.
TLR8-activating miR-146a-3p is an intermediate signal contributing to fetal membrane inflammation in response to bacterial LPS.
Title: TLR8-activating miR-146a-3p is an intermediate signal contributing to fetal membrane inflammation in response to bacterial LPS.
Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.
Title: Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.
TLR8 aggravates skin inflammation and fibrosis by activating skin fibroblasts in systemic sclerosis.
Title: TLR8 aggravates skin inflammation and fibrosis by activating skin fibroblasts in systemic sclerosis.
CD8 T Cell-Derived Exosomal miR-186-5p Elicits Renal Inflammation via Activating Tubular TLR7/8 Signal Axis.
Title: CD8 T Cell-Derived Exosomal miR-186-5p Elicits Renal Inflammation via Activating Tubular TLR7/8 Signal Axis.
TLR8 escapes X chromosome inactivation in human monocytes and CD4[+] T cells.
Title: TLR8 escapes X chromosome inactivation in human monocytes and CD4(+) T cells.
Human toll-like receptor 8 (TLR8) in NK cells: Implication for cancer immunotherapy.
Title: Human toll-like receptor 8 (TLR8) in NK cells: Implication for cancer immunotherapy.
Human TLR8 induces inflammatory bone marrow erythromyeloblastic islands and anemia in SLE-prone mice.
Title: Human TLR8 induces inflammatory bone marrow erythromyeloblastic islands and anemia in SLE-prone mice.
Long non-coding RNA TLR8-AS1 induces preeclampsia through increasing TLR8/STAT1 axis.
Title: Long non-coding RNA TLR8-AS1 induces preeclampsia through increasing TLR8/STAT1 axis.
TLR8 agonist partially improves IFN-gamma deficiency of NK cells in chronic hepatitis B through the synergy of monocytes.
Title: TLR8 agonist partially improves IFN-γ deficiency of NK cells in chronic hepatitis B through the synergy of monocytes.

Submit: New GeneRIF Correction See all GeneRIFs (210)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TLR8_1092 (e-PCR)
- UniSTS:277822

RH93995 (e-PCR)
- UniSTS:88420

TLR8 (e-PCR)
- UniSTS:506540

DXS7651 (e-PCR)
- UniSTS:30692

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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 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

General protein information

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Preferred Names: toll-like receptor 8

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

NG_012882.2 RefSeqGene

Range

5001..21550

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016610.4 → NP_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:790 → 835

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:898 → 1040

TIR; Toll - interleukin 1 - resistance

cd00116
Location:504 → 719

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:504 → 524

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:657 → 718

LRR_8; Leucine rich repeat
NM_138636.5 → NP_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:772 → 817

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:880 → 1022

TIR; Toll - interleukin 1 - resistance

cd00116
Location:486 → 701

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:486 → 506

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:639 → 700

LRR_8; Leucine rich repeat