TIRAP

Chr 11

TIR domain containing adaptor protein

Also known as: BACTS1, Mal, MyD88-2, wyatt

NCBI Gene: 114609 ENSG00000150455 UniProt: P58753 OMIM: 606252

The TIRAP protein functions as an adapter in TLR2, TLR4, and RAGE signaling pathways, activating NF-kappa-B and MAPK pathways to trigger cytokine secretion and inflammatory responses in innate immunity. Mutations in this gene are associated with protection against bacteremia, malaria, and tuberculosis rather than causing disease. The gene shows low constraint to loss-of-function variation (pLI = 0.0008, LOEUF = 1.66), consistent with its role in protective immunity rather than essential cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…