rs2229237
This variant is located in the IL6R gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysisFunctionalN=271Docampo E. et al.(2011)· Arthritis & Rheumatism
Exome sequencing and bioinformatic analysis of 271 Italian samples identified 12 coding variants in IL6 and IL6R genes (rs142759801, rs190436077, rs13306435, rs2228145, and others). Variant impact predictions suggest rs190436077 (p.Glu79Gln) in IL6 and rs2228145 (p.Asp358Ala) in IL6R may alter protein structure and binding properties relevant to COVID-19 severity and neuroinflammatory diseases, with potential pharmacogenetic implications.
About IL6R
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 identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]
View all IL6R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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