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Aliases for TLR9 Gene

Aliases for TLR9 Gene

  • Toll Like Receptor 9 2 3 5
  • Toll-Like Receptor 9 2 3
  • CD289 Antigen 4
  • CD289 3

External Ids for TLR9 Gene

Previous GeneCards Identifiers for TLR9 Gene

  • GC03M051347
  • GC03M051507
  • GC03M052111
  • GC03M052213
  • GC03M052230
  • GC03M052255

Summaries for TLR9 Gene

Entrez Gene Summary for TLR9 Gene

  • 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]

GeneCards Summary for TLR9 Gene

TLR9 (Toll Like Receptor 9) is a Protein Coding gene. Diseases associated with TLR9 include Hypersensitivity Reaction Type Ii Disease and Viral Infectious Disease. Among its related pathways are Activated TLR4 signalling and RET signaling. GO annotations related to this gene include transmembrane signaling receptor activity and siRNA binding. An important paralog of this gene is ENSG00000173366.

UniProtKB/Swiss-Prot for TLR9 Gene

  • Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:11564765, PubMed:17932028). Controls lymphocyte response to Helicobacter infection (By similarity).

Gene Wiki entry for TLR9 Gene

Additional gene information for TLR9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR9 Gene

Genomics for TLR9 Gene

Regulatory Elements for TLR9 Gene

Enhancers for TLR9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H052274 1.7 Ensembl ENCODE dbSUPER 11.4 -56.7 -56692 17 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 PBRM1 LOC101929054 PPM1M TWF2 ITIH4 GLYCTK RRP9 RFT1 RAD54L2 DCAF1
GH03H052339 1.2 Ensembl ENCODE 11.6 -113.6 -113638 0 HDGF FOXA2 RB1 ARNT ZSCAN4 ARID4B FEZF1 DMAP1 YBX1 BATF DNAH1 GLYCTK-AS1 MIR135A1 WDR82 GLYCTK TWF2 LOC101929054 ENSG00000173366 TLR9 PPM1M
GH03H052171 1.1 ENCODE dbSUPER 10.4 +54.4 54435 0 GTF2F1 CTCF TBP TAL1 JUN MAX CEBPG RAD21 ZIC2 FOSL1 TLR9 ENSG00000173366 TWF2 LOC101929054 GLYCTK-AS1 MIR135A1 PCBP4 WDR82 GLYCTK GPR62
GH03H052202 0.9 ENCODE dbSUPER 12.4 +23.6 23579 2 HDGF PKNOX1 CEBPB JUND POLR2A ATF3 IKZF1 CEBPA NBN HNF4A TLR9 ENSG00000173366 LOC101929054 TWF2 GLYCTK WDR82 MIR135A1 GLYCTK-AS1 NT5DC2 DUSP7
GH03H052204 0.7 dbSUPER 12.4 +21.8 21797 0 FOXA2 NFIA NFIB MAX REST YY1 FOXA1 OSR2 NFIC JUND TLR9 ENSG00000173366 TWF2 LOC101929054 WDR82 GLYCTK MIR135A1 GLYCTK-AS1 DUSP7 GC03P052204
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TLR9 on UCSC Golden Path with GeneCards custom track

Genomic Location for TLR9 Gene

Chromosome:
3
Start:
52,221,080 bp from pter
End:
52,226,163 bp from pter
Size:
5,084 bases
Orientation:
Minus strand

Genomic View for TLR9 Gene

Genes around TLR9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLR9 Gene

Proteins for TLR9 Gene

  • Protein details for TLR9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR96-TLR9_HUMAN
    Recommended name:
    Toll-like receptor 9
    Protein Accession:
    Q9NR96
    Secondary Accessions:
    • B3Y661
    • D1CS56
    • Q6UVZ2
    • Q9HD68
    • Q9HD69
    • Q9HD70
    • Q9NYC2
    • Q9NYC3

    Protein attributes for TLR9 Gene

    Size:
    1032 amino acids
    Molecular mass:
    115860 Da
    Quaternary structure:
    • Monomer and homodimer. Exists as a monomer in the absence of unmethylated cytidine-phosphate-guanosine (CpG) ligand. Proteolytic processing of an insertion loop (Z-loop) is required for homodimerization upon binding to the unmethylated CpG ligand leading to its activation (By similarity). Interacts with MYD88 via their respective TIR domains (By similarity). Interacts with BTK (PubMed:17932028). Interacts (via transmembrane domain) with UNC93B1. Interacts with CD300LH; the interaction may promote full activation of TLR9-triggered innate responses (By similarity). Interacts with CNPY3 and HSP90B1; this interaction is required for proper folding in the endoplasmic reticulum (PubMed:20865800). Interacts with SMPDL3B (By similarity).

    Alternative splice isoforms for TLR9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLR9 Gene

Post-translational modifications for TLR9 Gene

  • Activated by proteolytic cleavage of the flexible loop between repeats LRR14 and LRR15 within the ectodomain. Cleavage requires UNC93B1. Proteolytically processed by first removing the majority of the ectodomain by either asparagine endopeptidase (AEP) or a cathepsin followed by a trimming event that is solely cathepsin mediated and required for optimal receptor signaling.
  • Glycosylation at posLast=6464, Asn129, posLast=200200, Asn210, posLast=242242, Asn300, Asn340, posLast=469469, posLast=474474, Asn513, posLast=567567, Asn694, and Asn731
  • Modification sites at PhosphoSitePlus

Other Protein References for TLR9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TLR9 (TLR9)

No data available for DME Specific Peptides for TLR9 Gene

Domains & Families for TLR9 Gene

Gene Families for TLR9 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for TLR9 Gene

Suggested Antigen Peptide Sequences for TLR9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR96

UniProtKB/Swiss-Prot:

TLR9_HUMAN :
  • Belongs to the Toll-like receptor family.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR9: view

Function for TLR9 Gene

Molecular function for TLR9 Gene

UniProtKB/Swiss-Prot Function:
Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:11564765, PubMed:17932028). Controls lymphocyte response to Helicobacter infection (By similarity).

Gene Ontology (GO) - Molecular Function for TLR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005149 interleukin-1 receptor binding IPI 12925853
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
GO:0035197 siRNA binding IMP 15723075
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with TLR9: view
genes like me logo Genes that share phenotypes with TLR9: view

Animal Models for TLR9 Gene

MGI Knock Outs for TLR9:

Animal Model Products

  • Taconic Biosciences Mouse Models for TLR9

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR9
  • Applied Biological Materials Clones for TLR9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TLR9 Gene

Localization for TLR9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR9 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Endosome. Lysosome. Cytoplasmic vesicle, phagosome. Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon stimulation with agonist. Exit from the ER requires UNC93B1. Endolysosomal localization is required for proteolytic cleavage and subsequent activation. Intracellular localization of the active receptor may prevent from responding to self nucleic acid. {ECO:0000250 UniProtKB:Q9EQU3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLR9 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
lysosome 5
endosome 5
golgi apparatus 4
mitochondrion 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for TLR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region NAS 11130078
GO:0005578 proteinaceous extracellular matrix IBA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IDA 19740627
genes like me logo Genes that share ontologies with TLR9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLR9 Gene

Pathways & Interactions for TLR9 Gene

genes like me logo Genes that share pathways with TLR9: view

Gene Ontology (GO) - Biological Process for TLR9 Gene

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 --
genes like me logo Genes that share ontologies with TLR9: view

No data available for SIGNOR curated interactions for TLR9 Gene

Drugs & Compounds for TLR9 Gene

(31) Drugs for TLR9 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxychloroquine Approved Pharma inhibitor, antagonist, Target Autophagy inhibitor 161
chloroquine Approved, Vet_approved Pharma Agonist, Target 152
Cetuximab Approved Pharma EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 762
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2823
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1904

(17) Additional Compounds for TLR9 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CpG
Agonist

(2) ApexBio Compounds for TLR9 Gene

Compound Action Cas Number
Hydroxychloroquine Sulfate 747-36-4
Resiquimod (R-848) Immune response modifier 144875-48-9
genes like me logo Genes that share compounds with TLR9: view

Drug Products

Transcripts for TLR9 Gene

mRNA/cDNA for TLR9 Gene

Unigene Clusters for TLR9 Gene

Toll-like receptor 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR9
  • Applied Biological Materials Clones for TLR9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TLR9 Gene

No ASD Table

Relevant External Links for TLR9 Gene

GeneLoc Exon Structure for
TLR9
ECgene alternative splicing isoforms for
TLR9

Expression for TLR9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLR9 Gene

mRNA expression in normal human tissues for TLR9 Gene

Protein differential expression in normal tissues from HIPED for TLR9 Gene

This gene is overexpressed in Heart (26.8), Adrenal (20.5), Blymphocyte (13.4), and Adipocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR9 Gene



Protein tissue co-expression partners for TLR9 Gene

NURSA nuclear receptor signaling pathways regulating expression of TLR9 Gene:

TLR9

SOURCE GeneReport for Unigene cluster for TLR9 Gene:

Hs.87968

mRNA Expression by UniProt/SwissProt for TLR9 Gene:

Q9NR96-TLR9_HUMAN
Tissue specificity: Highly expressed in spleen, lymph node, tonsil and peripheral blood leukocytes, especially in plasmacytoid pre-dendritic cells. Levels are much lower in monocytes and CD11c+ immature dendritic cells. Also detected in lung and liver.

Evidence on tissue expression from TISSUES for TLR9 Gene

  • Blood(3.6)
  • Spleen(3.6)
  • Lymph node(3.5)
  • Bone marrow(2.7)
  • Intestine(2.6)
  • Lung(2.6)
  • Liver(2.5)
  • Skin(2.4)
  • Heart(2.3)
  • Kidney(2.3)
  • Nervous system(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with TLR9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR9 Gene

Orthologs for TLR9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLR9 34 33
  • 99.29 (n)
OneToMany
dog
(Canis familiaris)
Mammalia TLR9 34 33
  • 85.23 (n)
OneToMany
cow
(Bos Taurus)
Mammalia TLR9 34 33
  • 83.69 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Tlr9 34 16 33
  • 77.72 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tlr9 33
  • 77.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves TLR21 34
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 23 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494387 33
  • 45.66 (n)
zebrafish
(Danio rerio)
Actinopterygii tlr9 34 33
  • 48.88 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7896 35
  • 28 (a)
Species where no ortholog for TLR9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLR9 Gene

ENSEMBL:
Gene Tree for TLR9 (if available)
TreeFam:
Gene Tree for TLR9 (if available)

Paralogs for TLR9 Gene

Paralogs for TLR9 Gene

(2) SIMAP similar genes for TLR9 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TLR9: view

Variants for TLR9 Gene

Sequence variations from dbSNP and Humsavar for TLR9 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs746622200 A colorectal cancer sample 52,221,518(+) ACAGC(A/G)TCTTG reference, missense
rs755472700 A colorectal cancer sample 52,221,614(+) CCCAG(A/C/T)GCCCA reference, missense
rs1000657662 -- 52,227,345(+) CGGCT(G/T)GGCAA upstream-variant-2KB
rs1000694260 -- 52,220,941(+) GAGAA(C/T)AGAGC downstream-variant-500B
rs1000997311 -- 52,227,135(+) GAGAG(A/G)GTATT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TLR9 Gene

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

Variation tolerance for TLR9 Gene

Residual Variation Intolerance Score: 3.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLR9 Gene

Human Gene Mutation Database (HGMD)
TLR9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLR9 Gene

Disorders for TLR9 Gene

MalaCards: The human disease database

(135) MalaCards diseases for TLR9 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypersensitivity reaction type ii disease
  • autoimmune disease
viral infectious disease
  • viral disease
meningococcal meningitis
  • meningitis meningococcal
idiopathic interstitial pneumonia
  • diffuse idiopathic pulmonary fibrosis
hypersensitivity reaction disease
- elite association - COSMIC cancer census association via MalaCards
Search TLR9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLR9

Genetic Association Database (GAD)
TLR9
Human Genome Epidemiology (HuGE) Navigator
TLR9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLR9
genes like me logo Genes that share disorders with TLR9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR9 Gene

Publications for TLR9 Gene

  1. Association study of a single nucleotide polymorphism in the exon 2 region of toll-like receptor 9 (TLR9) gene with susceptibility to systemic lupus erythematosus among Chinese. (PMID: 19130296) Xu CJ … Ye DQ (Molecular biology reports 2009) 3 22 45 60
  2. TLR9 polymorphisms in African populations: no association with severe malaria, but evidence of cis-variants acting on gene expression. (PMID: 19284650) Campino S … Kwiatkowski DP (Malaria journal 2009) 3 22 45 60
  3. Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population. (PMID: 17344245) Tao K … Yasutomo K (Annals of the rheumatic diseases 2007) 3 22 45 60
  4. Toll-like receptor (TLR)-9 promotor polymorphisms and atherosclerosis. (PMID: 16125159) Hamann L … Schumann RR (Clinica chimica acta; international journal of clinical chemistry 2006) 3 22 45 60
  5. Toll-like receptor 9 agonists promote cellular invasion by increasing matrix metalloproteinase activity. (PMID: 16849519) Merrell MA … Selander KS (Molecular cancer research : MCR 2006) 3 22 25 60

Products for TLR9 Gene

  • Addgene plasmids for TLR9

Sources for TLR9 Gene

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