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TLR2 Gene(Protein Coding)

Toll Like Receptor 2

GCID:
GC04P153684
GIFtS:
61
Genes Participants
UDN Logo

Aliases for TLR2 Gene

Aliases for TLR2 Gene

  • Toll Like Receptor 2 2 3 5
  • Toll/Interleukin-1 Receptor-Like Protein 4 3 4
  • Toll-Like Receptor 2 2 3
  • TIL4 3 4
  • CD282 Antigen 4
  • CD282 3

External Ids for TLR2 Gene

Previous GeneCards Identifiers for TLR2 Gene

  • GC04P155458
  • GC04P154997
  • GC04P155183
  • GC04P155186
  • GC04P154966
  • GC04P154824
  • GC04P154606
  • GC04P150336
  • GC04P154612

Summaries for TLR2 Gene

Entrez Gene Summary for TLR2 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. 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]

GeneCards Summary for TLR2 Gene

TLR2 (Toll Like Receptor 2) is a Protein Coding gene. Diseases associated with TLR2 include Leprosy 3 and Colorectal Cancer. Among its related pathways are Bacterial infections in CF airways and Toll-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is TLR6.

UniProtKB/Swiss-Prot for TLR2 Gene

  • 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 (PubMed:21078852, PubMed:17889651). 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 (PubMed:10426995, PubMed:10426996). 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 (PubMed:11441107). 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 (PubMed:16622205). MAPK activation in response to bacterial peptidoglycan also occurs via this receptor (PubMed:16622205). 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 (PubMed:19362712). M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression (PubMed:15809303). 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 (PubMed:16880211). Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity).

Tocris Summary for TLR2 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR2 Gene

Additional gene information for TLR2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR2 Gene

Genomics for TLR2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TLR2 Gene

Promoters and enhancers for TLR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04I153683 Enhancer 1 Ensembl ENCODE dbSUPER 569.8 +0.7 745 3.2 CTCF ZNF687 USF1 L3MBTL2 BHLHE40 MAX USF2 ELF1 CBX8 POLR2A TLR2 RNF175 LOC105377499
GH04I153701 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.4 +17.3 17260 0.1 TLR2 RNF175 LOC105377499 GC04M153689
GH04I153650 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 44.6 -32.2 -32227 2.8 POLR2A GABPA TLR2 RNF175 LOC100419170 WDR45P1 PIR44715
GH04I153654 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 31.9 -28.4 -28363 2.2 SKI FOXA2 HNF4G MAX HNF4A ZNF600 SETDB1 TLR2 LOC100419170 RNF175 WDR45P1 PIR44715
GH04I153676 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 21.1 -7.2 -7208 1.5 JUN CEBPB EP300 ATF2 FOXA1 JUND GATA3 POLR2A FOS TLR2 RNF175 WDR45P1 LOC100419170
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TLR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TLR2 gene promoter:

Genomic Locations for TLR2 Gene

Genomic Locations for TLR2 Gene
chr4:153,684,256-153,706,091
(GRCh38/hg38)
Size:
21,836 bases
Orientation:
Plus strand
chr4:154,605,441-154,627,243
(GRCh37/hg19)

Genomic View for TLR2 Gene

Genes around TLR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TLR2 Gene

Proteins for TLR2 Gene

Products:

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  • Protein details for TLR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60603-TLR2_HUMAN
    Recommended name:
    Toll-like receptor 2
    Protein Accession:
    O60603
    Secondary Accessions:
    • B3Y612
    • D1CS45
    • D1CS48
    • D1CS49
    • O15454
    • Q8NI00

    Protein attributes for TLR2 Gene

    Size:
    784 amino acids
    Molecular mass:
    89838 Da
    Quaternary structure:
    • Interacts with LY96, TLR1 and TLR6 (via extracellular domain) (PubMed:17889651). TLR2 seems to exist in heterodimers with either TLR1 or TLR6 before stimulation by the ligand. The heterodimers form bigger oligomers in response to their corresponding ligands as well as further heterotypic associations with other receptors such as CD14 and/or CD36 (PubMed:16880211). Binds MYD88 (via TIR domain). Interacts with TICAM1 (PubMed:12471095). Interacts with CNPY3 (By similarity). Interacts with ATG16L1 (PubMed:23376921).
    • (Microbial infection) Interacts with M.tuberculosis EsxA (PubMed:20800577). Interacts with M.bovis MPB83 (PubMed:20800577).

    Three dimensional structures from OCA and Proteopedia for TLR2 Gene

neXtProt entry for TLR2 Gene

Protein Expression for TLR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TLR2 Gene

  • Glycosylation of Asn-442 is critical for secretion of the N-terminal ectodomain of TLR2.
  • Glycosylation at posLast=114114, posLast=199199, isoforms=414, and posLast=442442
  • Modification sites at PhosphoSitePlus

Other Protein References for TLR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TLR2 Gene

Domains & Families for TLR2 Gene

Gene Families for TLR2 Gene

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

Protein Domains for TLR2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TLR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60603

UniProtKB/Swiss-Prot:

TLR2_HUMAN :
  • Ester-bound lipid substrates are bound through a crevice formed between the LRR 11 and LRR 12.
  • Belongs to the Toll-like receptor family.
Domain:
  • Ester-bound lipid substrates are bound through a crevice formed between the LRR 11 and LRR 12.
  • The ATG16L1-binding motif mediates interaction with ATG16L1.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR2: view

Function for TLR2 Gene

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Molecular function for TLR2 Gene

GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 2,with two alternatively spliced isoforms,one expressed in lung,the other in heart,brain,muscle,mediator of liposaccharide (LPS) considered as a receptor,induced cellular signaling,involved in innate immunity through the recruitment of MYD88,against Gram positive bacteria
UniProtKB/Swiss-Prot Function:
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 (PubMed:21078852, PubMed:17889651). 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 (PubMed:10426995, PubMed:10426996). 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 (PubMed:11441107). 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 (PubMed:16622205). MAPK activation in response to bacterial peptidoglycan also occurs via this receptor (PubMed:16622205). 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 (PubMed:19362712). M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression (PubMed:15809303). 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 (PubMed:16880211). Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity).

Gene Ontology (GO) - Molecular Function for TLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 11274165
GO:0001875 lipopolysaccharide receptor activity TAS 11518816
GO:0004872 receptor activity IDA,TAS 11672593
GO:0005515 protein binding IPI 10854325
GO:0008329 signaling pattern recognition receptor activity IDA 10384090
genes like me logo Genes that share ontologies with TLR2: view
genes like me logo Genes that share phenotypes with TLR2: view

Animal Models for TLR2 Gene

MGI Knock Outs for TLR2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TLR2 Gene

Localization for TLR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR2 Gene

Membrane; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane; Single-pass type I membrane protein. Membrane raft. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to diacylated lipoproteins, TLR2:TLR6 heterodimers are recruited in lipid rafts, this recruitment determines the intracellular targeting to the Golgi apparatus. Triacylated lipoproteins induce the same mechanism for TLR2:TLR1 heterodimers. {ECO:0000269 PubMed:16880211}.

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 TLR2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
extracellular 3
cytosol 3
cytoskeleton 2
peroxisome 2
nucleus 2
lysosome 2
endosome 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19740627
GO:0005794 Golgi apparatus IDA 16880211
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane TAS 9435236
GO:0009986 cell surface IDA,IEA 12443841
genes like me logo Genes that share ontologies with TLR2: view

Pathways & Interactions for TLR2 Gene

genes like me logo Genes that share pathways with TLR2: view

Gene Ontology (GO) - Biological Process for TLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001774 microglial cell activation IEA --
GO:0001775 cell activation IDA 15294986
GO:0002224 toll-like receptor signaling pathway IEA,TAS --
GO:0002237 response to molecule of bacterial origin IEA --
genes like me logo Genes that share ontologies with TLR2: view

No data available for SIGNOR curated interactions for TLR2 Gene

Drugs & Compounds for TLR2 Gene

Products:

  1. Drug

(75) Drugs for TLR2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tuberculin Purified Protein Derivative Approved Pharma Target, ligand 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
Cyproterone Acetate Approved, Investigational Pharma Androgen receptor antagonist 45
Dienogest Approved Pharma 46
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1828

(43) Additional Compounds for TLR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TLR2 Gene

Compound Action Cas Number
Imiquimod Toll-like receptor 7 (TLR7) agonist 99011-02-6
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9
RWJ 21757 Toll-like receptor 7 (TLR7) agonist 121288-39-9

(1) ApexBio Compounds for TLR2 Gene

Compound Action Cas Number
Toll-like receptor modulator TLR antagonist 926927-42-6
genes like me logo Genes that share compounds with TLR2: view

Drug Products

Transcripts for TLR2 Gene

Products:

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mRNA/cDNA for TLR2 Gene

(14) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(67) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TLR2 Gene

Toll-like receptor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR2

Alternative Splicing Database (ASD) splice patterns (SP) for TLR2 Gene

No ASD Table

Relevant External Links for TLR2 Gene

GeneLoc Exon Structure for
TLR2
ECgene alternative splicing isoforms for
TLR2

Expression for TLR2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLR2 Gene

mRNA expression in normal human tissues for TLR2 Gene
mRNA expression by BioGPS for TLR2 GenemRNA expression by GTEx for TLR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLR2 Gene

This gene is overexpressed in Whole Blood (x30.2).

Protein differential expression in normal tissues from HIPED for TLR2 Gene

This gene is overexpressed in Monocytes (39.9), Peripheral blood mononuclear cells (16.1), and Milk (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TLR2 Gene:

TLR2

SOURCE GeneReport for Unigene cluster for TLR2 Gene:

Hs.519033

mRNA Expression by UniProt/SwissProt for TLR2 Gene:

O60603-TLR2_HUMAN
Tissue specificity: Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues.

Evidence on tissue expression from TISSUES for TLR2 Gene

  • Blood(4.7)
  • Lung(4.6)
  • Spleen(3.5)
  • Intestine(3.1)
  • Lymph node(3.1)
  • Bone marrow(2.8)
  • Heart(2.6)
  • Liver(2.4)
  • Nervous system(2.4)
  • Kidney(2.3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with TLR2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR2 Gene

Orthologs for TLR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TLR2 33 34
  • 99.62 (n)
cow
(Bos Taurus)
 Mammalia TLR2 33 34
  • 83.4 (n)
dog
(Canis familiaris)
 Mammalia TLR2 33 34
  • 82.65 (n)
rat
(Rattus norvegicus)
 Mammalia Tlr2 33
  • 76.19 (n)
mouse
(Mus musculus)
 Mammalia Tlr2 33 16 34
  • 75.64 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TLR2 34
  • 64 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia TLR2 34
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TLR2-2 33 34
  • 60.08 (n)
-- 34
  • 52 (a)
 OneToMany
TLR15 34
  • 22 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 50 (a)
 OneToMany
-- 34
  • 47 (a)
 OneToMany
-- 34
  • 36 (a)
 OneToMany
-- 34
  • 27 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100485771 33
  • 55.84 (n)
zebrafish
(Danio rerio)
 Actinopterygii tlr2 33 34
  • 50.99 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Toll-9 34
  • 17 (a)
 OneToMany
Species where no ortholog for TLR2 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)
  • 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 TLR2 Gene

ENSEMBL:
Gene Tree for TLR2 (if available)
TreeFam:
Gene Tree for TLR2 (if available)

Paralogs for TLR2 Gene

Paralogs for TLR2 Gene

(4) SIMAP similar genes for TLR2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for TLR2 Gene

genes like me logo Genes that share paralogs with TLR2: view

Variants for TLR2 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for TLR2 Gene

TLR2_HUMAN-O60603
Genetic variations in TLR2 are associated with susceptibility to leprosy [MIM:246300]. Leprosy is a chronic disease associated with depressed cellular (but not humoral) immunity, the bacterium requires a lower temperature than 37 degrees Celsius and thrives particularly in peripheral Schwann cells and macrophages. The Trp-677 polymorphism in the intracellular domain of TLR2 has a role in susceptibility to lepromatous leprosy. Wild-type TLR2 mediates CD14-enhanced Mycobacterium leprae-dependent activation of NFKB1, but TLR2 containing the Trp-677 polymorphism did not. The impaired function of the Trp-677 polymorphism provides a molecular mechanism for the poor cellular immune response associated with lepromatous leprosy.

Sequence variations from dbSNP and Humsavar for TLR2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs121917864 risk-factor, Leprosy 3 153,704,936(+) C/T coding_sequence_variant, missense_variant
rs5743708 risk-factor, Mycobacterium tuberculosis, susceptibility to 153,705,165(+) G/A coding_sequence_variant, missense_variant
rs137853176 not-provided, not provided 153,703,172(+) A/G coding_sequence_variant, missense_variant
rs137853177 not-provided, not provided 153,704,813(+) A/C coding_sequence_variant, missense_variant
rs1000058927 -- 153,685,403(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TLR2 Gene

Variant ID Type Subtype PubMed ID
nsv1022081 CNV gain 25217958
nsv595749 CNV gain 21841781
nsv966330 CNV duplication 23825009

Variation tolerance for TLR2 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLR2 Gene

Human Gene Mutation Database (HGMD)
TLR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR2

SNP Genotyping and Copy Number Assay Products

Disorders for TLR2 Gene

MalaCards: The human disease database

(79) MalaCards diseases for TLR2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leprosy 3
  • leprosy, susceptibility to, 3
colorectal cancer
  • crc
lepromatous leprosy
  • lepromatous leprosy [type l]
nontuberculous mycobacterial lung disease
  • non-tuberculous mycobacterial lung disease
melioidosis
  • melioidosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search TLR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TLR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TLR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR2 Gene

Publications for TLR2 Gene

  1. Rare TLR2 mutations reduce TLR2 receptor function and can increase atopy risk. (PMID: 19220214) Kormann MS … Kabesch M (Allergy 2009) 3 22 44 58
  2. No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart disease and Behçet's disease. (PMID: 19693643) Coşan F … Gül A (Clinical rheumatology 2009) 3 22 44 58
  3. Association of SLC11A1 with tuberculosis and interactions with NOS2A and TLR2 in African-Americans and Caucasians. (PMID: 19723394) Velez DR … Scott WK (The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 2009) 3 22 44 58
  4. Dysregulation of toll-like receptor-2 (TLR-2)-induced effects in monocytes from patients with atopic dermatitis: impact of the TLR-2 R753Q polymorphism. (PMID: 18445187) Niebuhr M … Werfel T (Allergy 2008) 3 22 44 58
  5. Polymorphisms of toll-like receptor 2 and 4 genes in Chagas disease. (PMID: 18368233) Zafra G … González CI (Memorias do Instituto Oswaldo Cruz 2008) 3 22 44 58

Products for TLR2 Gene

  • Addgene plasmids for TLR2

Sources for TLR2 Gene

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