TLR7 toll like receptor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLR7provided by HGNC
Official Full Name: toll like receptor 7provided by HGNC
Primary source: HGNC:HGNC:15631
See related: Ensembl:ENSG00000196664 MIM:300365
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: TLR7-like
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, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 3.3), appendix (RPKM 3.0) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: Xp22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	X	NC_000023.11 (12867072..12890361)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (12885202..12908480)

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
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?

Increased signaling potentials in peripheral B cells of pSS patients in response to TLR7 and -9 stimulation.
Title: Single Cell Based Phosphorylation Profiling Identifies Alterations in Toll-Like Receptor 7 and 9 Signaling in Patients With Primary Sjögren's Syndrome.
These findings indicate that TLR7 SNP (rs2074109) could be one of the factors for predisposition to HIV-1 and TLR9 1635A/G genotype and allele might have a role in HIV-1 disease progression in Indian population.
Title: Polymorphisms in Toll-Like Receptors (TLRs)-7 and <i>9</i> Genes in Indian Population with Progressive and Nonprogressive HIV-1 Infection.
All vaccines were well tolerated, apart from in the TLR7a 100mug dose group.
Title: Adjuvant effect of TLR7 agonist adsorbed on aluminum hydroxide (AS37): A phase I randomized, dose escalation study of an AS37-adjuvanted meningococcal C conjugated vaccine.
The present study indicated an increased risk of dengue disease susceptibility among individuals with specific genetic variants of majority of the analysed TLR3, TLR7 and TLR8 polymorphisms - indicating important role of TLR polymorphisms in dengue disease pathogenesis
Title: Contribution of Toll like receptor polymorphisms to dengue susceptibility and clinical outcome among eastern Indian patients.
induced apoptosis and impaired migration in coronary artery endothelial cells
Title: Toll-Like Receptor 7 Stimulation Promotes the Development of Atherosclerosis in Apolipoprotein E-Deficient Mice.
TLR7 activation by microRNAs may contribute to the neuroinflammatory cascade in epilepsy in tuberous sclerosis complex.
Title: TLR7 activation in epilepsy of tuberous sclerosis complex.
these results strongly suggest that differences in IFN-alpha production depend on the regulatory processes at the level of the TLR7 receptor complex.
Title: Toll-like receptor 7-adapter complex modulates interferon-α production in HIV-stimulated plasmacytoid dendritic cells.
TLR-7-expressing M2 macrophages may promote the activation of Th2 immune responses via tlr7/IL-33 signaling in IgG4-related disease.
Title: Activated M2 Macrophages Contribute to the Pathogenesis of IgG4-Related Disease via Toll-like Receptor 7/Interleukin-33 Signaling.
IFNgamma promotes antibody secreting cell development by synergizing with IL-2 and TLR7/8 ligands to induce genome-wide epigenetic reprogramming of B cells, which results in increased chromatin accessibility surrounding IRF4 and BLIMP1 binding motifs and epigenetic remodeling of IL21R and PRDM1 loci.
Title: IFNγ induces epigenetic programming of human T-bet<sup>hi</sup> B cells and promotes TLR7/8 and IL-21 induced differentiation.
TLR7-dominant innate immunity is related to the development of sialadenitis in primary Sjogren's syndrome
Title: Activation of Toll-like receptor 7 signaling in labial salivary glands of primary Sjögren's syndrome patients.

Submit: New GeneRIF Correction See all GeneRIFs (289)

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

NHGRI GWAS Catalog

Description
Multiple common variants for celiac disease influencing immune gene expression. NHGRI GWA Catalog NHGRI GWA 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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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
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of toll-like receptor 7 (TLR7) in peptide-treated PBMCs	PubMed
reverse transcriptase	gag-pol	Gardiquimod, a Toll-like receptor-7 agonist, inhibits HIV-1 reverse transcriptase in HIV-1-infected macrophages	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

DXS7724 (e-PCR)
- UniSTS:55568

D8S2279 (e-PCR)
- UniSTS:473907

TLR7 (e-PCR)
- UniSTS:506514

STS-N30597 (e-PCR)
- UniSTS:73630

PMC128073P8 (e-PCR)
- UniSTS:270570

Homology

Homologs of the TLR7 gene: The TLR7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 211 organisms have orthologs with human gene TLR7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
drug binding	IEA Inferred from Electronic Annotation more info
pattern recognition receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
siRNA binding	ISS Inferred from Sequence or Structural Similarity more info
single-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
I-kappaB kinase/NF-kappaB signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
I-kappaB phosphorylation	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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
innate immune response	IEA Inferred from Electronic Annotation more info
microglial cell activation	IEA Inferred from Electronic Annotation more info
positive regulation of NIK/NF-kappaB signaling	IDA Inferred from Direct Assay more info	PubMed
positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of inflammatory response	IC Inferred by Curator more info	PubMed
positive regulation of interferon-alpha production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interferon-beta production	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of interferon-beta production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interferon-gamma production	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of interferon-gamma production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interleukin-6 production	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of interleukin-8 production	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
toll-like receptor 7 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
toll-like receptor signaling pathway	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi membrane	TAS Traceable Author Statement more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
early phagosome	ISS Inferred from Sequence or Structural Similarity more info
endolysosome membrane	TAS Traceable Author Statement more info
endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
endosome	ISS Inferred from Sequence or Structural Similarity more info
endosome membrane	TAS Traceable Author Statement more info
integral component of membrane	IEA Inferred from Electronic Annotation more info
lysosome	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: toll-like receptor 7

Names: toll-like receptor 7-like

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_012569.1 RefSeqGene

Range

4990..28279

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016562.4 → NP_057646.1 toll-like receptor 7 precursor

See identical proteins and their annotated locations for NP_057646.1

Status: REVIEWED

Source sequence(s)

AC005859, AF240467, BC033651

Consensus CDS

CCDS14151.1

UniProtKB/Swiss-Prot

Q9NYK1

UniProtKB/TrEMBL

B2R9N9

Related

ENSP00000370034.3, ENST00000380659.4

Conserved Domains (6) summary

TIGR00864
Location:753 → 837

PCC; polycystin cation channel protein

smart00255
Location:890 → 993

TIR; Toll - interleukin 1 - resistance

COG4886
Location:488 → 775

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:496 → 518

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:75 → 139

LRR_8; Leucine rich repeat

cl26793
Location:191 → 711

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional