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; AllianceGenome:HGNC:15631
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: IMD74; SLEB17; 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. The human TLR family comprises 11 members. 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. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Broad expression in placenta (RPKM 3.3), appendix (RPKM 3.0) and 23 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_2023_03	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (12867072..12890361)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (12448550..12471838)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (12885191..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?

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Title: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Endothelial Cell-Derived Let-7c-Induced TLR7 Activation on Smooth Muscle Cell Mediate Vascular Wall Remodeling in Moyamoya Disease.
Title: Endothelial Cell-Derived Let-7c-Induced TLR7 Activation on Smooth Muscle Cell Mediate Vascular Wall Remodeling in Moyamoya Disease.
De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Title: De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Dissecting the role of toll-like receptor 7 in pancreatic cancer.
Title: Dissecting the role of toll-like receptor 7 in pancreatic cancer.
Resolving a paradox between mouse and man: a genetic link between TLR7 and the pathogenesis of human lupus nephritis.
Title: Resolving a paradox between mouse and man: a genetic link between TLR7 and the pathogenesis of human lupus nephritis.
UBE2L3 regulates TLR7-induced B cell autoreactivity in Systemic Lupus Erythematosus.
Title: UBE2L3 regulates TLR7-induced B cell autoreactivity in Systemic Lupus Erythematosus.
Frequency of IRF5+ dendritic cells is associated with the TLR7-induced inflammatory cytokine response in SARS-CoV-2 infection.
Title: Frequency of IRF5+ dendritic cells is associated with the TLR7-induced inflammatory cytokine response in SARS-CoV-2 infection.
Toll-like receptors 3, 7, 8, and 9 in gastric cancer.
Title: Toll-like receptors 3, 7, 8, and 9 in gastric cancer.
Upregulation of Toll-Like Receptors 2, 5, 7, and 9 in the Cervical Epithelial Cells of Iranian Women Infected with High-Risk Human Papilloma Virus.
Title: Upregulation of Toll-Like Receptors 2, 5, 7, and 9 in the Cervical Epithelial Cells of Iranian Women Infected with High-Risk Human Papilloma Virus.
Sex-biased expression of the TLR7 gene in severe COVID-19 patients: Insights from transcriptomics and epigenomics.
Title: Sex-biased expression of the TLR7 gene in severe COVID-19 patients: Insights from transcriptomics and epigenomics.

Submit: New GeneRIF Correction See all GeneRIFs (367)

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 74, COVID-19-related, X-linked MedGen: C5435745 OMIM: 301051 GeneReviews: Not available	Compare labs
Systemic lupus erythematosus 17 MedGen: C5676884 OMIM: 301080 GeneReviews: Not available	Compare labs

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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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables siRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables single-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in I-kappaB phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IBA Inferred from Biological aspect of Ancestor 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 inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	IC Inferred by Curator 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-6 production	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of interleukin-8 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 macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
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 cGMP	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in toll-like receptor 7 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in toll-like receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early phagosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endolysosome membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of 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

D1CS69, Q9NR98, Q9NYK1

UniProtKB/TrEMBL

B2R9N9, D1CS68

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

PLN00113
Location:191 → 711

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

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