Human Gene IL6R (uc001ffa.2) Description and Page Index
Description: Homo sapiens interleukin 6 receptor (IL6R), transcript variant 2, mRNA. RefSeq Summary (NM_181359): This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]. Transcript (Including UTRs) Position: hg19 chr1:154,377,669-154,441,926 Size: 64,258 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr1:154,378,106-154,437,641 Size: 59,536 Coding Exon Count: 9
Asthma Manuel A R Ferreira et al. Lancet 2011, Identification of IL6R and chromosome 11q13.5 as risk loci for asthma., Lancet.
The IL6R association further supports the hypothesis that cytokine signalling dysregulation affects asthma risk, and raises the possibility that an IL6R antagonist (tocilizumab) may be effective to treat the disease, perhaps in a genotype-dependent manner. Results for the 11q13.5 locus suggest that it directly increases the risk of allergic sensitisation which, in turn, increases the risk of subsequent development of asthma. Larger or more functionally focused studies are needed to characterise the many loci with modest effects that remain to be identified for asthma.
body mass metabolic syndrome Esteve, E. et al. 2006, Polymorphisms in the interleukin-6 receptor gene are associated with body mass index and with characteristics of the metabolic syndrome, Clin Endocrinol (Oxf) 2006 65(1) 88-91.
The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with obesity and characteristics of the metabolic syndrome in our population of Mediterranean subjects.
C-reactive protein Elliott ,et al. 2009, Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease, JAMA 2009 302- 1 : 37-48.
The lack of concordance between the effect on coronary heart disease risk of CRP genotypes and CRP levels argues against a causal association of CRP with coronary heart 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.
SCOP Domains: 48726 - Immunoglobulin 49265 - Fibronectin type III
ModBase Predicted Comparative 3D Structure on P08887-2
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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.