Toll-Like Receptor 2

Alternative Names

  • TLR2
  • Toll/Interleukin 1 Receptor-Like 4
  • TIL4
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OMIM Number

603028

NCBI Gene ID

7097

Uniprot ID

O60603

Length

26,564 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Toll-like receptor 2

Molecular Mass

89838 Da

Amino Acid Count

784

Genomic Location

chr4:153,684,079-153,710,642

Gene Map Locus
4q31.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001318787.2:c.-372-616A>GLebanonchr4:153687301AssociationHypertension, Essential; Hyperlipidemia, Familial Combined, 3NG_016229.1:g.8013A>G; NM_001318787.2:c.-372-616A>G1898830

Other Reports

Saudi Arabia

Semlali et al. (2017) attempted to identify an association between 3 TLR2 SNPs (rs3804100, rs4696480, and rs3804099) and the development of breast cancer (BC) in the Saudi population. 126 BC affected women were recruited to the study along with 146 healthy controls. Genotyping and statistical analysis found that there was no correlation between these TLR2 polymorphisms and an increased risk of BC in Saudi Arab females. The cohort was then further stratified by age as well as Estrogen Receptor (ER) status. The SNPs did not show an association with BC in the different age groups or in the ER+ group. However, in the ER- cases, the T allele of SNP rs3804099 showed a significant correlation with BC compared to controls (OR, 1.61, p=0.005). The authors noted that this finding could possibly be attributed to a small sample size. 

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