Full Name: Interleukin 6 Receptor
Genomic Location: Chromosome 1:154,405,193-154,469,450
Protein Size: 468 amino acids
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.
Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis.
- rs2228145 is linked to IL6R, it is located within the coding region.
- Population frequencies are approximately 63% for the reference allele (A) and 37% for the alternate allele (C).
- Studies suggest the C allele is associated with a reduced risk for depression.