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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. 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. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]
TLR9 (Toll Like Receptor 9) is a Protein Coding gene. Diseases associated with TLR9 include Meningococcal Meningitis and Cervicitis. Among its related pathways are Signaling by GPCR and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and siRNA binding. An important paralog of this gene is ENSG00000173366.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005149 | interleukin-1 receptor binding | IPI | 12925853 |
GO:0005515 | protein binding | IEA | -- |
GO:0035197 | siRNA binding | IMP | 15723075 |
GO:0038187 | pattern recognition receptor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | NAS | 11130078 |
GO:0005737 | cytoplasm | IDA | 19740627 |
GO:0005764 | lysosome | ISS | -- |
GO:0005768 | endosome | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | RET signaling | ||
3 | Toll-like Receptor Signaling Pathway | ||
4 | Toll-Like receptor Signaling Pathways | ||
5 | Th17 Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0002237 | response to molecule of bacterial origin | TAS | 15356140 |
GO:0002376 | immune system process | IEA | -- |
GO:0002639 | positive regulation of immunoglobulin production | IDA | 23857366 |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Hydroxychloroquine | Approved | Pharma | Target, antagonist, inhibitor | Autophagy inhibitor | 431 | |
chloroquine | Approved, Investigational, Vet_approved | Pharma | Agonist, Target, inhibitor | 216 | ||
leucovorin | Approved | Pharma | 3692,1548 | |||
Cetuximab | Approved | Pharma | EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors | 869 | ||
Cisplatin | Approved | Pharma | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
CpG |
|
Agonist |
|
Compound | Action | Cas Number |
---|---|---|
Hydroxychloroquine Sulfate | 747-36-4 | |
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 | TLR9 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | TLR9 30 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | TLR9 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Tlr9 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Tlr9 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | TLR21 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100494387 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tlr9 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7896 32 |
|
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709661 | Benign: not provided | 52,223,875(-) | G/T | SYNONYMOUS_VARIANT | |
710317 | Likely Benign: not provided | 52,222,165(-) | G/T | SYNONYMOUS_VARIANT | |
712459 | Likely Benign: not provided | 52,222,605(-) | C/T | MISSENSE_VARIANT | |
712985 | Likely Benign: not provided | 52,224,124(-) | A/G | SYNONYMOUS_VARIANT | |
713902 | Benign: not provided | 52,221,223(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv460537 | CNV | loss | 19166990 |
nsv470572 | CNV | loss | 18288195 |
nsv482084 | CNV | gain | 20164927 |
nsv508218 | CNV | deletion | 20534489 |
nsv508926 | CNV | insertion | 20534489 |
nsv519445 | CNV | gain+loss | 19592680 |
nsv590301 | CNV | loss | 21841781 |
nsv834694 | CNV | gain | 17160897 |
nsv834695 | CNV | loss | 17160897 |
nsv954858 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
meningococcal meningitis |
|
|
cervicitis |
|
|
stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome |
|
|
malaria |
|
|
herpes simplex |
|