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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]
TLR7 (Toll Like Receptor 7) is a Protein Coding gene. Diseases associated with TLR7 include Immunodeficiency 74, Covid19-Related, X-Linked and Superficial Basal Cell Carcinoma. Among its related pathways are Phagocytosis of Microbes and Toll-Like receptor Signaling Pathways. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and double-stranded RNA binding. An important paralog of this gene is TLR8.
Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003725 | double-stranded RNA binding | IDA | 16111635 |
GO:0003727 | single-stranded RNA binding | ISS | -- |
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0008144 | drug binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005737 | cytoplasm | IDA | 19740627 |
GO:0005764 | lysosome | ISS | -- |
GO:0005768 | endosome | ISS | -- |
GO:0005783 | endoplasmic reticulum | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Toll-like Receptor Signaling Pathway | ||
3 | Toll-Like receptor Signaling Pathways | ||
4 | Measles |
.35
|
.33
|
5 | Th17 Differentiation Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001774 | microglial cell activation | IEA | -- |
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Imiquimod | Approved, Investigational | Pharma | Agonist, Target | TLR-7 agonist,immunomodulator with antiviral and antitumor activity, Toll-like receptor 7 (TLR7) agonist | 163 | |
Hydroxychloroquine | Approved | Pharma | Target, antagonist, inhibitor | Autophagy inhibitor | 474 | |
Edetic Acid | Approved, Vet_approved | Pharma | 165 | |||
Pentetic acid | Approved | Pharma | 165 | |||
Resiquimod | Investigational | Pharma | Target, agonist | Toll-like receptor 7 (TLR7) agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
R848 |
|
Agonist |
|
Compound | Action | Cas Number |
---|---|---|
Imiquimod | Toll-like receptor 7 (TLR7) agonist | 99011-02-6 |
Pam3CSK4 | TLR1/2 agonist; induces cytokine production | 112208-00-1 |
Poly(I:C) | TLR3 agonist | 24939-03-5 |
Resiquimod | Toll-like receptor 7 (TLR7) agonist | 144875-48-9 |
RWJ 21757 | Toll-like receptor 7 (TLR7) agonist | 121288-39-9 |
Compound | Action | Cas Number |
---|---|---|
Hydroxychloroquine Sulfate | 747-36-4 | |
Imiquimod | TLR-7 agonist,immunomodulator with antiviral and antitumor activity | 99011-02-6 |
Imiquimod hydrochloride | Toll-like receptor 7 agonist | 99011-78-6 |
Imiquimod maleate | Immune response modifier | 896106-16-4 |
Resiquimod (R-848) | Immune response modifier | 144875-48-9 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TLR7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TLR7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TLR7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tlr7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Tlr7 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TLR7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | TLR7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TLR7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tlr7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tlr7 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7896 32 |
|
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
977232 | Pathogenic: Immunodeficiency 74, covid19-related, x-linked | 12,887,636(+) |
CAACT/C NM_016562.4(TLR7):c.2129_2132del (p.Gln710fs) |
FRAMESHIFT | |
977233 | Pathogenic: Immunodeficiency 74, covid19-related, x-linked | 12,887,891(+) |
G/T NM_016562.4(TLR7):c.2383G>T (p.Val795Phe) |
MISSENSE | |
rs140749805 | Benign: not provided | 12,885,869(+) |
A/C NM_016562.4(TLR7):c.361A>C (p.Arg121=) |
SYNONYMOUS | |
rs149314023 | Benign: not provided | 12,886,163(+) |
G/A NM_016562.4(TLR7):c.655G>A (p.Val219Ile) |
MISSENSE | |
rs200805413 | Likely Benign: not provided | 12,888,511(+) |
C/G NM_016562.4(TLR7):c.3003C>G (p.Leu1001=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 74, covid19-related, x-linked |
|
|
superficial basal cell carcinoma |
|
|
hand, foot and mouth disease |
|
|
anogenital venereal wart |
|
|
penile disease |
|
|