rs2563298

This is a 3 prime utr variant variant in the CD14 gene.

Research that mentions this SNP (1)

Functional impact of endotoxin receptor CD14 polymorphisms on transcriptional activity
FunctionalN=42Jasmin Mertens et al.(2009)· Journal of Molecular Medicine

This functional study investigates the molecular mechanisms of the CD14 rs2569190 polymorphism in peripheral blood mononuclear cells using chromatin immunoprecipitation and allele-specific transcript quantification. The T allele of rs2569190 showed approximately twice the recruitment of serine-5-phosphorylated RNA polymerase II compared to the C allele, suggesting enhanced transcription initiation; however, transcript abundance was similar between alleles. The findings indicate that rs2569190 affects transcription initiation but not mRNA expression levels in PBMC, and suggest that endotoxin sensitivity associated with this polymorphism may depend on tissue-specific effects in hepatic or other cell types rather than myeloid CD14 expression.

About CD14

The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide, and to viruses. This gene has been identified as a target candidate in the treatment of SARS-CoV-2-infected patients to potentially lessen or inhibit a severe inflammatory response. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2020]

View all CD14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…