IL6R

Chr 1AR

interleukin 6 receptor

Also known as: CD126, HIES5, IL-1Ra, IL-6R, IL-6R-1, IL-6RA, IL6Q, IL6QTL

NCBI Gene: 3570 ENSG00000160712 UniProt: P08887 OMIM: 147880

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Interleukin 6, serum level of, QTL]MIM #614752

[Interleukin-6 receptor, soluble, serum level of, QTL]MIM #614689

Hyper-IgE syndrome 5, autosomal recessive, with recurrent infectionsMIM #618944

Clinical highlights

Gene-disease validity (ClinGen)

hyper-IgE recurrent infection syndrome 5, autosomal recessive · ARLimitednot for standalone diagnostic reporting

Active trials

143

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

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

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Solid Tumor

A 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 RECRUITING

NCT04503278Phase PHASE1BioNTech Cell & Gene Therapies GmbHStarted 2020-09-16

CLDN6 CAR-TCLDN6 uRNA-LPX/CLDN6 modRNA-LPX

Healthy AdultsHigh AltitudeIsolation, Social

Human Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica

ENROLLING BY INVITATION

NCT06133530Phase NAIU University of Applied SciencesStarted 2023-09-24

Human milk oligosaccharidesMaltose

Systemic Histiocytosis (Disorder)

Biomarkers in Systemic Histiocytosis

NOT YET RECRUITING

NCT07157683Assistance Publique - Hôpitaux de ParisStarted 2025-10-01