rs2292151

This is a synonymous variant in the TICAM1 gene — it does not change the protein's amino acid sequence.

ClinVar annotation

Benign★★★
4 submitters3 publications

Herpes simplex encephalitis, susceptibility to, 4 (IIAE6); not specified

View on ClinVar →

Research that mentions this SNP (2)

Correlation betweenTICAM1gene polymorphisms and community‐acquired pneumonia in children
AssociationN=681Yong Yang et al.(2020)· Journal of Biochemical and Molecular Toxicology

A case-control study of 375 Chinese children with community-acquired pneumonia (CAP) and 306 healthy controls examined 8 tag SNPs in the TICAM1 gene. The CC genotype of rs11466711 was protective against CAP (OR=0.557-0.568, P<0.05). The AA genotype of rs6510826 was associated with increased CRP levels (β=8.060-10.620, P<0.05), while the AA genotype of rs35747610 reduced sepsis risk (β=-0.427 to -0.428, P<0.05). The haplotype CCCG was protective against CAP, severe pneumonia, and sepsis (all P<0.05).

Traits studied:C-reactive protein (CRP) levelCAP severityCommunity-acquired pneumoniaSepsisSevere community-acquired pneumonia
The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity
AssociationN=764Ovsyannikova IG et al.(2011)· Human Genetics

This study examined associations between polymorphisms in 454 Toll-like receptor (TLR) and related signaling gene SNPs and measles vaccine-specific immune responses in 764 subjects. The major allele of TLR2 rs3804100 was associated with increased antibody response (660 vs. 892 mIU/ml, p=0.002), while TLR4 rs5030710 showed decreased response (2,209 vs. 830 mIU/ml, p=0.001). A MAP3K7 haplotype was associated with lower antibody levels (p=0.01), and TLR-related SNPs including rs3748022 (IKBKE Pro713Leu), rs1786704 (TIRAP), rs702966 (KIAA1542/IRF7), and others were associated with variations in measles-specific cytokine responses (IL-2, IL-6, IL-10, IFNα, IFNγ, IFNλ-1, TNFα).

Traits studied:IFNγ Elispot responseMeasles vaccine immunityMeasles-specific IFNα secretionMeasles-specific IFNγ secretionMeasles-specific IFNλ-1 secretionMeasles-specific IL-10 secretionMeasles-specific IL-2 secretionMeasles-specific IL-6 secretionMeasles-specific TNFα secretionMeasles-specific antibody response

About TICAM1

This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]

View all TICAM1 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…