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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
CD markers FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p21.2
Chromosome location (bp)
52221080 - 52225645
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2. Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and antibody production 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Inflammatory response, Innate immunity
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000139[Golgi membrane] GO:0001774[microglial cell activation] GO:0001817[regulation of cytokine production] GO:0001819[positive regulation of cytokine production] GO:0001932[regulation of protein phosphorylation] GO:0002218[activation of innate immune response] GO:0002224[toll-like receptor signaling pathway] GO:0002237[response to molecule of bacterial origin] GO:0002376[immune system process] GO:0002639[positive regulation of immunoglobulin production] GO:0002730[regulation of dendritic cell cytokine production] GO:0002755[MyD88-dependent toll-like receptor signaling pathway] GO:0004888[transmembrane signaling receptor activity] GO:0005149[interleukin-1 receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0007165[signal transduction] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007252[I-kappaB phosphorylation] GO:0008584[male gonad development] GO:0009605[response to external stimulus] GO:0009615[response to virus] GO:0010008[endosome membrane] GO:0010508[positive regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016323[basolateral plasma membrane] GO:0016324[apical plasma membrane] GO:0030277[maintenance of gastrointestinal epithelium] GO:0030890[positive regulation of B cell proliferation] GO:0031410[cytoplasmic vesicle] GO:0032009[early phagosome] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032715[negative regulation of interleukin-6 production] GO:0032717[negative regulation of interleukin-8 production] GO:0032722[positive regulation of chemokine production] GO:0032725[positive regulation of granulocyte macrophage colony-stimulating factor production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0032729[positive regulation of interferon-gamma production] GO:0032733[positive regulation of interleukin-10 production] GO:0032735[positive regulation of interleukin-12 production] GO:0032741[positive regulation of interleukin-18 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0034122[negative regulation of toll-like receptor signaling pathway] GO:0034123[positive regulation of toll-like receptor signaling pathway] GO:0034162[toll-like receptor 9 signaling pathway] GO:0034163[regulation of toll-like receptor 9 signaling pathway] GO:0034165[positive regulation of toll-like receptor 9 signaling pathway] GO:0035197[siRNA binding] GO:0036019[endolysosome] GO:0036020[endolysosome membrane] GO:0038187[pattern recognition receptor activity] GO:0042742[defense response to bacterium] GO:0042803[protein homodimerization activity] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043410[positive regulation of MAPK cascade] GO:0043507[positive regulation of JUN kinase activity] GO:0045087[innate immune response] GO:0045089[positive regulation of innate immune response] GO:0045322[unmethylated CpG binding] GO:0045335[phagocytic vesicle] GO:0045577[regulation of B cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0050727[regulation of inflammatory response] GO:0050729[positive regulation of inflammatory response] GO:0050829[defense response to Gram-negative bacterium] GO:0050864[regulation of B cell activation] GO:0050871[positive regulation of B cell activation] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051607[defense response to virus] GO:0051770[positive regulation of nitric-oxide synthase biosynthetic process] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071222[cellular response to lipopolysaccharide] GO:0071248[cellular response to metal ion] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1902350[cellular response to chloroquine]