TLR2 (toll like receptor 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7097
Gene name Gene Name - the full gene name approved by the HGNC.
Toll like receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TLR2
Synonyms (NCBI Gene) Gene synonyms aliases
CD282, TIL4
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.3
Summary Summary of gene provided in NCBI Entrez 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 func
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs5743708 G>A Risk-factor Missense variant, coding sequence variant
rs121917864 C>T Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(46)
miRTarBase ID miRNA Experiments Reference
MIRT001127 hsa-miR-105-5p Luciferase reporter assay 19509287
MIRT001127 hsa-miR-105-5p qRT-PCR 19509287
MIRT001127 hsa-miR-105-5p Western blot 19509287
MIRT000449 hsa-miR-146a-5p qRT-PCR, flow, Luciferase reporter assay, Western blot 20375304
MIRT006646 hsa-miR-19a-3p Luciferase reporter assay, qRT-PCR, Western blot 22105995
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
HIF1A Unknown 18159247
NFKB1 Activation 12686724;19779021
RELA Activation 12686724;19779021
SP1 Activation 18423053
SP1 Unknown 18583567
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(92)
GO ID Ontology Definition Evidence Reference
GO:0001530 Function Lipopolysaccharide binding IDA 11274165
GO:0001540 Function Amyloid-beta binding IDA 22198949
GO:0001540 Function Amyloid-beta binding ISS
GO:0001875 Function Lipopolysaccharide immune receptor activity TAS 11518816
GO:0002224 Process Toll-like receptor signaling pathway IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603028 11848 ENSG00000137462
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O60603
Protein name Toll-like receptor 2 (Toll/interleukin-1 receptor-like protein 4) (CD antigen CD282)
Protein 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:1
PDB 1FYW , 1FYX , 1O77 , 2Z7X , 2Z80 , 6NIG , 8AR0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 76 → 135 Leucine rich repeat Repeat
PF01463 LRRCT 561 → 586 Leucine rich repeat C-terminal domain Family
PF01582 TIR 640 → 784 TIR domain Family
Tissue specificity 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.
Sequence 
MPHTLWMVWVLGVIISLSKEESSNQASLSCDRNGICKGSSGSLNSIPSGLTEAVKSLDLS
NNRITYISNSDLQRCVNLQALVLTSNGINTIEEDSFSSLGSLEHLDLSYNYLSNLSSSWF
KPLSSLTFLNLLGNPYKTLGETSLFSHLTKLQILRVGNMDTFTKIQRKDFAGLTFLEELE
IDASDLQSYEPKSLKSIQNVSHLILHMKQHILLLEIFVDVTSSVECLELRDTDLDTFHFS
ELSTGETNSLIKKFTFRNVKITDESLFQVMKLLNQISGLLELEFDDCTLNGVGNFRASDN
DRVIDPGKVETLTIRRLHIPRFYLFYDLSTLYSLTERVKRITVENSKVFLVPCLLSQHLK
SLEYLDLSENLMVEEYLKNSACEDAWPSLQTLILRQNHLASLEKTGETLLTLKNLTNIDI
SKNSFHSMPETCQWPEKMKYLNLSSTRIHSVTGCIPKTLEILDVSNNNLNLFSLNLPQLK
ELYISRNKLMTLPDASLLPMLLVLKISRNAITTFSKEQLDSFHTLKTLEAGGNNFICSCE
FLSFTQEQQALAKVLIDWPANYLCDSPSHVRGQQVQDVRLSVSECHRTALVSGMCCALFL
LILLTGVLCHRFHGLWYMKMMWAWLQAKRKPRKAPSRNICYDAFVSYSERDAYWVENLMV
QELENFNPPFKLCLHKRDFIPGKWIIDNIIDSIEKSHKTVFVLSENFVKSEWCKYELDFS
HFRLFDENNDAAILILLEPIEKKAIPQRFCKLRKIMNTKTYLEWPMDEAQREGFWVNLRA
AIKS
Sequence length 784
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Phagosome
PI3K-Akt signaling pathway
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Salmonella infection
Legionellosis
Leishmaniasis
Chagas disease
Malaria
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis B
Measles
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Proteoglycans in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Rheumatoid arthritis
Lipid and atherosclerosis 		  ER-Phagosome pathway
Beta defensins
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Toll Like Receptor TLR1:TLR2 Cascade
Toll Like Receptor TLR6:TLR2 Cascade
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
Regulation of TLR by endogenous ligand
Neutrophil degranulation
Modulation by Mtb of host immune system
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Angioedema Hereditary angioedema with normal C1Inh N/A N/A ClinVar
Leprosy Leprosy, susceptibility to, 3 N/A N/A ClinVar
Show/Hide Text Mining Associations (475)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Stimulate 37876569
Abortion Spontaneous Associate 29796818
Abscess Stimulate 34539639
Acne Vulgaris Associate 18704103, 29927962, 30056444, 30737272, 31662521
Acne Vulgaris Stimulate 22513780, 31194941
Acquired Immunodeficiency Syndrome Associate 23722608, 26372276, 33777838
Acute Coronary Syndrome Stimulate 19556696, 24524679, 31644579
Acute Disease Associate 23484049
Acute On Chronic Liver Failure Associate 33717119, 37816833
Adenocarcinoma Associate 27689189