Gene Gene information from NCBI Gene database.
Entrez ID 7097
Gene name Toll like receptor 2
Gene symbol TLR2
Synonyms (NCBI Gene)
CD282TIL4
Chromosome 4
Chromosome location 4q31.3
Summary 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.
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.
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-PCRflowLuciferase reporter assayWestern blot 20375304
MIRT006646 hsa-miR-19a-3p Luciferase reporter assayqRT-PCRWestern blot 22105995
Transcription factors Transcription factors information provided by TRRUST V2 database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603028 11848 ENSG00000137462
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
KPLSSLTFLNLLGNP
YKTLGETSLFSHLTKLQILRVGNMDTFTKIQRKDFAGLTFLEELE
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.
  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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTERIOR UVEITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC RHINITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 17013994, 20714796
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 12133981, 18704103, 20861605, 23668840, 27902761, 28377308, 30737272, 31662521
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 18704103, 20861605, 30737272, 31662521
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne LHGDN 18704103
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25179298, 31644579
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 28921377
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 29286200
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 25624047
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 18208411
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19280717, 25872171
★☆☆☆☆
Found in Text Mining only