Description: Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 2, mRNA. RefSeq Summary (NM_001243211): The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]. Transcript (Including UTRs) Position: hg19 chr11:112,013,974-112,034,840 Size: 20,867 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr11:112,014,319-112,025,776 Size: 11,458 Coding Exon Count: 4
allergic rhinitis Kruse S 2003, Polymorphisms in the IL 18 gene are associated with specific sensitization to common allergens and allergic rhinitis., The Journal of allergy and clinical immunology. 2003 Jan;111(1):117-22.
[PubMed 12532106]
IL18 might be responsible for the linkage effects seen in the chromosomal region 11q22, which has been found previously with the phenotype sensitization to mite allergen. Thus a suspected direct role of IL18 in the pathogenesis of atopy has been strengthened by the presence of 8 common SNPs in the promoter regions of IL18.
Alzheimer's disease Bossu, P. et al. 2007, Interleukin-18 gene polymorphisms predict risk and outcome of Alzheimer's disease, J Neurol Neurosurg Psychiatry 2007.
[PubMed 17299019]
As IL-18 cytokine promoter gene polymorphisms have been previously described to have functional consequences on IL-18 expression, it is possible that individuals with a prevalent IL-18 gene variant have a dysregulated immune response, suggesting that IL-18 mediated immune mechanisms may play a crucial role in AD.
anti-GAD65 antibody Hiromatsu, Y. et al. 2006, IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease, Diabet Med 2006 23(2) 211-5.
[PubMed 16433722]
These findings in a Japanese population indicate that Graves disease patients carrying the GG genotype at position -4657 of the promoter of the IL-18 gene or a gene in linkage disequilibrium with the -4675G/-607A/-137G haplotype have a low risk for the development of GAD65Ab in Graves disease.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6WWJ7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_il18Pathway - IL 18 Signaling Pathway h_th1th2Pathway - Th1/Th2 Differentiation h_nkcellsPathway - Ras-Independent pathway in NK cell-mediated cytotoxicity h_cytokinePathway - Cytokine Network h_IL12Pathway - IL12 and Stat4 Dependent Signaling Pathway in Th1 Development