IL6R
Chr 1ARinterleukin 6 receptor
Also known as: CD126, HIES5, IL-1Ra, IL-6R, IL-6R-1, IL-6RA, IL6Q, IL6QTL
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]
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene — mechanism propensity
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IL6R · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study to Evaluate the Efficacy and Safety of Satralizumab in FSHD1
ACTIVE NOT RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGSafety and Pharmacodynamics of GNSC-001 Intra-articular Injection for Knee Osteoarthritis
ACTIVE NOT RECRUITINGStudy to Evaluate the Safety and Tolerability of FX201 in Patients with Osteoarthritis of the Knee
ACTIVE NOT RECRUITINGMethotrexate in Erosive Inflammatory Hand Osteoarthritis
ACTIVE NOT RECRUITINGBiomarkers in Systemic Histiocytosis
NOT YET RECRUITINGAdipose Tissue and Inflammation in Coronary Heart Disease
ACTIVE NOT RECRUITINGDeveloping a Complex ex Vivo Endometrial Tissue Model to Improve Endometriosis Care
RECRUITINGClinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RECRUITINGGlioma Microenvironment an Exploratory Study
ACTIVE NOT RECRUITINGCytokine Alterations and Chronic Post-Surgical Pain
NOT YET RECRUITINGA Clinical Study of the Safety and Effectiveness of an Investigational Cell Therapy Given With and Without an Investigational RNA-based Vaccine in Patients With Organ Tumors
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools