Alt. symbols: TIL4 | CD282

Approved name: toll like receptor 2
Alt. names: toll-like receptor 2

Location: 4q31.3: 153684050 - 153706260 (+)
Gene type: protein_coding, 14 transcripts.

Scores: LoFtool: | pLI: 0.00009229 | LOEUF: 0.933

HGNC: 11848

NCBI: 7097, RefSeq: NG_016229.1

Ensembl: ENSG00000137462.10

LRG_ | Status: none

OMIM: 603028

Expression | ProteinAtlas

TLR2 encodes toll-like receptor 2, a receptor that recognizes bacteria, particularly M. tuberculosis and other mycobacteria, by their cell wall components such as lipoproteins or lipopeptides. Together with TLR1 or TLR6, TLR2 triggers an innate immune response via MYD88 and TRAF6, leading to NF-kB and MAPK activation, resulting in cytokine secretion, an inflammatory response and apoptosis.

TLR2 polymorphisms are associated with susceptibility to Mycobacterium tuberculosis [OMIM: 607948], Leprosy [OMIM: 246300], and Colorectal cancer [OMIM: 114500]. Kang and Chae (2001) detected the variant R677W in 10 of 45 Korean patients with lepromatous leprosy, a widespread Mycobacterium leprae infection, but it was not present in any of 45 Korean controls with tuberculoid leprosy, a limited form of leprosy with fewer bacteria. Functional testing showed TLR2 wild-type lead to NFKB activation u pon stimulation, but TLR2 R677W did not. However, this variant was not detected in any of 286 Indian and 99 Japanese leprosy patients by Malhotra et al. (2005) and Mikita et al. (2009), respectively. The variant R753Q was associated with susceptibilty to tuberculosis by Ogus et al. (2004) in a retrospective case-control study. Schroder et al. (2005) found monocytes and lymphocytes with variant R753Q had decreased production of TNF and IFNG upon stimulation with Borrelia lysate. In addition, they showed that TNF production in heterozygous mice did not differ from wildtype when stimulated with LTA or LPS, but showed decreased TNF production when stimulated with Borrelia lysate. [Load More]