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MIM.603028 4q32 HGNC:11848 ENSG00000137462 Entrez:7097

Tuesday 8 January 2008

The protein encoded by this gene is a member of the Toll-like receptor (TLRs) 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. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity.

The various TLRs exhibit different patterns of expression.

TLR2 gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB.

TheToll-mediated immune response reflects an ancestral conserved signaling system that has homologous components in a wide range of organisms. In Drosophila, the Toll transmembrane receptor (Toll receptor, TLRs) plays a central role in the signaling pathways that control dorsal-ventral axis formation and the innate nonspecific immune response.


- susceptibility to leprosy

- susceptibility to colorectal adenocarcinoma (16879199)


- Boraska Jelavic, T.; Barisic, M.; Drmic Hofman, I.; Boraska, V.; Vrdoljak, E.; Peruzovic, M.; Hozo, I.; Puljiz, Z.; Terjic, J. : Microsatelite (sic) GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer. Clin. Genet. 70: 156-160, 2006. PubMed ID : 16879199

- Kang, T.-J.; Chae, G.-T. : Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients. FEMS Immun. Med. Microbiol. 31: 53-58, 2001.