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mutLBSgeneDB |
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| Gene summary for TLR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | TLR2 |
| Gene name | toll-like receptor 2 | |
| Synonyms | CD282|TIL4 | |
| Cytomap | UCSC genome browser: 4q32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003264.3, | |
| Description | toll/interleukin 1 receptor-like 4toll/interleukin-1 receptor-like protein 4 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603028 | |
| HGNC : HGNC | ||
| HPRD : 04323 | ||
| Protein | UniProt: O60603 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TLR2 | |
| BioGPS: 7097 | ||
| Pathway | NCI Pathway Interaction Database: TLR2 | |
| KEGG: TLR2 | ||
| REACTOME: TLR2 | ||
| Pathway Commons: TLR2 | ||
| Context | iHOP: TLR2 | |
| ligand binding site mutation search in PubMed: TLR2 | ||
| UCL Cancer Institute: TLR2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007252 | I-kappaB phosphorylation | 19740627 | GO:0032722 | positive regulation of chemokine production | 19740627 | GO:0032755 | positive regulation of interleukin-6 production | 19740627 | GO:0032757 | positive regulation of interleukin-8 production | 17128265 | GO:0034123 | positive regulation of toll-like receptor signaling pathway | 17128265 | GO:0042346 | positive regulation of NF-kappaB import into nucleus | 19740627 | GO:0042495 | detection of triacyl bacterial lipopeptide | 19931471 | GO:0042496 | detection of diacyl bacterial lipopeptide | 19931471 | GO:0050830 | defense response to Gram-positive bacterium | 11521063 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 12594207 | GO:0071223 | cellular response to lipoteichoic acid | 12594207 | GO:0071726 | cellular response to diacyl bacterial lipopeptide | 19931471 | GO:0071727 | cellular response to triacyl bacterial lipopeptide | 19931471 |
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| Ligand binding site mutations for TLR2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L317 | R315Q | GBM | 1 | L312 | I314V | LUSC | 1 | P352 | P352S | SKCM | 1 | L317 | R315Q | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for TLR2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L317 | R315Q | -0.86090354 | L312 | I314V | -0.8014915 | P352 | P352S | -0.56754065 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for TLR2 from PDB |
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| Differential gene expression and gene-gene network for TLR2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for TLR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0021368 | Inflammation | 10 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0023343 | Leprosy | 10 | Biomarker, GeneticVariation |
| umls:C0009404 | Colorectal Neoplasms | 3 | Biomarker, GeneticVariation |
| umls:C0270611 | Brain Injuries | 2 | Biomarker |
| umls:C0878544 | Cardiomyopathies | 1 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TLR2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|withdrawn | DB00045 | OspA lipoprotein | Biotech |  |
| Experimental | DB03963 | S-(Dimethylarsenic)Cysteine | Small molecule |  |
| Investigational | DB05475 | SCV-07 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TLR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PCJ | (2R)-3-{[(2S)-3-HYDROXY-2-(PALMITOYLAMINO)PROPYL]THIO}PROPANE-1,2-DIYL DIHEXADECANOATE | 2z7x | A | L312 L317 P352 |
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| Conservation information for LBS of TLR2 |
| Multiple alignments for O60603 in multiple species |
| LBS | AA sequence | # species | Species | D327 | FYLFYDLSTLY | 2 | Homo sapiens, Pan troglodytes | D327 | FYLFFDLEGIE | 1 | Gallus gallus | D327 | FYLFYDLSTVY | 1 | Mus musculus | D327 | FFLFHDLSSIY | 1 | Bos taurus | D327 | FYSFNDLSTLY | 1 | Macaca mulatta | F322 | LHIPRFYLFYD | 2 | Homo sapiens, Pan troglodytes | F322 | MTILDFYLFFD | 1 | Gallus gallus | F322 | LHIPQFYLFYD | 1 | Mus musculus | F322 | LHIPQFFLFHD | 1 | Bos taurus | F322 | LHIPQFYSFND | 1 | Macaca mulatta | F325 | PRFYLFYDLST | 2 | Homo sapiens, Pan troglodytes | F325 | LDFYLFFDLEG | 1 | Gallus gallus | F325 | PQFYLFYDLST | 1 | Mus musculus | F325 | PQFFLFHDLSS | 1 | Bos taurus | F325 | PQFYSFNDLST | 1 | Macaca mulatta | F349 | ENSKVFLVPCL | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | F349 | ASSKVFMVPCR | 1 | Gallus gallus | F349 | ENSKVFLVPCS | 1 | Mus musculus | K347 | TVENSKVFLVP | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | K347 | SIASSKVFMVP | 1 | Gallus gallus | K347 | TIENSKVFLVP | 1 | Bos taurus | L282 | SGLLELEFDDC | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L282 | RSLRELEAIDC | 1 | Gallus gallus | L282 | LELSEVEFDDC | 1 | Mus musculus | L282 | SGILEVEFDDC | 1 | Bos taurus | L312 | GKVETLTIRRL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L312 | SSIETLSITNM | 1 | Gallus gallus | L312 | GKVETVTIRRL | 1 | Mus musculus | L312 | GNVETLTIRKL | 1 | Bos taurus | L317 | LTIRRLHIPRF | 2 | Homo sapiens, Pan troglodytes | L317 | LSITNMTILDF | 1 | Gallus gallus | L317 | VTIRRLHIPQF | 1 | Mus musculus | L317 | LTIRKLHIPQF | 1 | Bos taurus | L317 | LTIRRLHIPQF | 1 | Macaca mulatta | L328 | YLFYDLSTLYS | 2 | Homo sapiens, Pan troglodytes | L328 | YLFFDLEGIET | 1 | Gallus gallus | L328 | YLFYDLSTVYS | 1 | Mus musculus | L328 | FLFHDLSSIYP | 1 | Bos taurus | L328 | YSFNDLSTLYP | 1 | Macaca mulatta | L334 | STLYSLTERVK | 2 | Homo sapiens, Pan troglodytes | L334 | EGIETQVGKLK | 1 | Gallus gallus | L334 | STVYSLLEKVK | 1 | Mus musculus | L334 | SSIYPLTGRVK | 1 | Bos taurus | L334 | STLYPLTERVK | 1 | Macaca mulatta | L350 | NSKVFLVPCLL | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | L350 | SSKVFMVPCRL | 1 | Gallus gallus | L350 | NSKVFLVPCSF | 1 | Mus musculus | M270 | SLFQVMKLLNQ | 2 | Homo sapiens, Pan troglodytes | M270 | YISQIAVLLKE | 1 | Gallus gallus | M270 | SFNELLKLLRY | 1 | Mus musculus | M270 | SFVEVVKLFNY | 1 | Bos taurus | M270 | SLFQVMKLLSQ | 1 | Macaca mulatta | N294 | LNGVGNFRASD | 2 | Homo sapiens, Pan troglodytes | N294 | LEGKGAWDMTE | 1 | Gallus gallus | N294 | LNGLGDFNPSE | 1 | Mus musculus | N294 | HDGIGDFRALS | 1 | Bos taurus | N294 | LNGVGDFRGSD | 1 | Macaca mulatta | P352 | KVFLVPCLLSQ | 3 | Homo sapiens, Bos taurus, Pan troglodytes | P352 | KVFMVPCRLAR | 1 | Gallus gallus | P352 | KVFLVPCSFSQ | 1 | Mus musculus | P352 | KVFLVPCLLSR | 1 | Macaca mulatta | S346 | ITVENSKVFLV | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | S346 | LSIASSKVFMV | 1 | Gallus gallus | S346 | VTIENSKVFLV | 1 | Bos taurus | V348 | VENSKVFLVPC | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | V348 | IASSKVFMVPC | 1 | Gallus gallus | V348 | IENSKVFLVPC | 1 | Bos taurus | V351 | SKVFLVPCLLS | 4 | Homo sapiens, Bos taurus, Pan troglodytes, Macaca mulatta | V351 | SKVFMVPCRLA | 1 | Gallus gallus | V351 | SKVFLVPCSFS | 1 | Mus musculus | Y326 | RFYLFYDLSTL | 2 | Homo sapiens, Pan troglodytes | Y326 | DFYLFFDLEGI | 1 | Gallus gallus | Y326 | QFYLFYDLSTV | 1 | Mus musculus | Y326 | QFFLFHDLSSI | 1 | Bos taurus | Y326 | QFYSFNDLSTL | 1 | Macaca mulatta | Y376 | LMVEEYLKNSA | 3 | Homo sapiens, Mus musculus, Macaca mulatta | Y376 | LLVNNRLGETI | 1 | Gallus gallus | Y376 | LMSEETLKNSA | 1 | Bos taurus | Y376 | LIVEEYLKNSA | 1 | Pan troglodytes |
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