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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 Transporters
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
4
Cytoband
q31.3
Chromosome location (bp)
153684070 - 153706260
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides 1,2. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins 3,4. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR6 5. Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via this receptor, but also partially via TLR4 6. MAPK activation in response to bacterial peptidoglycan also occurs via this receptor 7. Acts as a receptor for M.tuberculosis lipoproteins LprA, LprG, LpqH and PstS1, some lipoproteins are dependent on other coreceptors (TLR1, CD14 and/or CD36); the lipoproteins act as agonists to modulate antigen presenting cell functions in response to the pathogen 8. M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression 9. Recognizes M.tuberculosis major T-antigen EsxA (ESAT-6) which inhibits downstream MYD88-dependent signaling (shown in mouse) (By similarity). Forms activation clusters composed of several receptors depending on the ligand, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway. Forms the cluster TLR2:TLR6:CD14:CD36 in response to diacylated lipopeptides and TLR2:TLR1:CD14 in response to triacylated lipopeptides 10. Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity)....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
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NAD
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. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]...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 Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius 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 Biotech drugs 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) Protein evidence (Ezkurdia et al 2014)
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GO:0001530[lipopolysaccharide binding] GO:0001540[amyloid-beta binding] GO:0001666[response to hypoxia] GO:0001774[microglial cell activation] GO:0001817[regulation of cytokine production] GO:0001875[lipopolysaccharide immune receptor activity] GO:0002224[toll-like receptor signaling pathway] GO:0002237[response to molecule of bacterial origin] GO:0002376[immune system process] GO:0002755[MyD88-dependent toll-like receptor signaling pathway] GO:0004888[transmembrane signaling receptor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] GO:0006691[leukotriene metabolic process] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0007165[signal transduction] GO:0007252[I-kappaB phosphorylation] GO:0007612[learning] GO:0008285[negative regulation of cell population proliferation] GO:0009605[response to external stimulus] GO:0009636[response to toxic substance] GO:0009986[cell surface] GO:0010628[positive regulation of gene expression] GO:0014005[microglia development] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030667[secretory granule membrane] GO:0030670[phagocytic vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0031663[lipopolysaccharide-mediated signaling pathway] GO:0032289[central nervous system myelin formation] GO:0032493[response to bacterial lipoprotein] GO:0032496[response to lipopolysaccharide] GO:0032570[response to progesterone] GO:0032722[positive regulation of chemokine production] GO:0032728[positive regulation of interferon-beta 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:0032868[response to insulin] GO:0034123[positive regulation of toll-like receptor signaling pathway] GO:0034134[toll-like receptor 2 signaling pathway] GO:0035325[Toll-like receptor binding] GO:0035354[Toll-like receptor 1-Toll-like receptor 2 protein complex] GO:0035355[Toll-like receptor 2-Toll-like receptor 6 protein complex] GO:0038023[signaling receptor activity] GO:0038124[toll-like receptor TLR6:TLR2 signaling pathway] GO:0038187[pattern recognition receptor activity] GO:0042495[detection of triacyl bacterial lipopeptide] GO:0042496[detection of diacyl bacterial lipopeptide] GO:0042497[triacyl lipopeptide binding] GO:0042802[identical protein binding] GO:0042834[peptidoglycan binding] GO:0042995[cell projection] GO:0043235[receptor complex] GO:0044297[cell body] GO:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045121[membrane raft] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046209[nitric oxide metabolic process] GO:0048714[positive regulation of oligodendrocyte differentiation] GO:0050135[NAD(P)+ nucleosidase activity] GO:0050729[positive regulation of inflammatory response] GO:0050765[negative regulation of phagocytosis] GO:0050830[defense response to Gram-positive bacterium] 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:0051964[negative regulation of synapse assembly] GO:0061809[NAD+ nucleotidase, cyclic ADP-ribose generating] GO:0070542[response to fatty acid] GO:0071221[cellular response to bacterial lipopeptide] GO:0071223[cellular response to lipoteichoic acid] GO:0071346[cellular response to interferon-gamma] GO:0071723[lipopeptide binding] GO:0071726[cellular response to diacyl bacterial lipopeptide] GO:0071727[cellular response to triacyl bacterial lipopeptide] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1903974[positive regulation of cellular response to macrophage colony-stimulating factor stimulus] GO:1904466[positive regulation of matrix metallopeptidase secretion]
Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
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GO:0001817[regulation of cytokine production] GO:0002224[toll-like receptor signaling pathway] GO:0002237[response to molecule of bacterial origin] GO:0002755[MyD88-dependent toll-like receptor signaling pathway] GO:0004888[transmembrane signaling receptor activity] GO:0005515[protein binding] GO:0006955[immune response] GO:0016021[integral component of membrane] GO:0034134[toll-like receptor 2 signaling pathway] GO:0045087[innate immune response]
The Human Protein Atlas project is funded
