IL6R (interleukin 6 receptor)

2003-08-01  

Identity

HGNC
IL6R
LOCATION
1q21.3
LOCUSID
3570
ALIAS
CD126,HIES5,IL-1Ra,IL-6R,IL-6R-1,IL-6RA,IL6Q,IL6QTL,IL6RA,IL6RQ,gp80
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3570
MIM: 147880
HGNC: 6019
Ensembl: ENSG00000160712

Variants:

dbSNP: 3570
ClinVar: 3570
TCGA: ENSG00000160712
COSMIC: IL6R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160712ENST00000344086P08887
ENSG00000160712ENST00000368485P08887
ENSG00000160712ENST00000368485A0N0L5
ENSG00000160712ENST00000476006H0Y9B1
ENSG00000160712ENST00000512471D6R9R8
ENSG00000160712ENST00000515190H0Y949
ENSG00000160712ENST00000622330A0A087WTB5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Jak-STAT signaling pathwayKEGGko04630
Hematopoietic cell lineageKEGGko04640
Cytokine-cytokine receptor interactionKEGGhsa04060
Jak-STAT signaling pathwayKEGGhsa04630
Hematopoietic cell lineageKEGGhsa04640
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
HIF-1 signaling pathwayKEGGhsa04066
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-6 signalingREACTOMER-HSA-1059683
Signal TransductionREACTOMER-HSA-162582
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
RAF-independent MAPK1/3 activationREACTOMER-HSA-112409
MAPK3 (ERK1) activationREACTOMER-HSA-110056
MAPK1 (ERK2) activationREACTOMER-HSA-112411
Interleukin-6 family signalingREACTOMER-HSA-6783589
EGFR tyrosine kinase inhibitor resistanceKEGGko01521
EGFR tyrosine kinase inhibitor resistanceKEGGhsa01521
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165292659tocilizumabChemicalClinicalAnnotationassociatedPD24978393, 27958380
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD24978393, 27958380

References

Pubmed IDYearTitleCitations
378553602024The Possible Association of IL-6R Gene Polymorphisms in the Development of Diabetic Nephropathy.1
381166392024Role of interleukin-6 and endothelin-1 receptors in enhanced melanocyte dendricity of facial spots and suppression of their ligands by niacinamide and tranexamic acid.0
385807102024Heterogeneous associations between interleukin-6 receptor variants and phenotypes across ancestries and implications for therapy.0
387913222024No Association of Polymorphisms in the Genes Encoding Interleukin-6 and Interleukin-6 Receptor Subunit Alpha with the Risk of Keloids in Polish Patients.0
378553602024The Possible Association of IL-6R Gene Polymorphisms in the Development of Diabetic Nephropathy.1
381166392024Role of interleukin-6 and endothelin-1 receptors in enhanced melanocyte dendricity of facial spots and suppression of their ligands by niacinamide and tranexamic acid.0
385807102024Heterogeneous associations between interleukin-6 receptor variants and phenotypes across ancestries and implications for therapy.0
387913222024No Association of Polymorphisms in the Genes Encoding Interleukin-6 and Interleukin-6 Receptor Subunit Alpha with the Risk of Keloids in Polish Patients.0
360666252023A real-world study of interleukin-6 receptor blockade in patients with neuromyelitis optica spectrum disorder.2
366178902023M1-Like Macrophages Modulate Fibrosis and Inflammation of Orbital Fibroblasts in Graves' Orbitopathy: Potential Relevance to Soluble Interleukin-6 Receptor.2
366895682023Interleukin-6 Receptor Polymorphism Attenuates Clonal Hematopoiesis-Mediated Coronary Artery Disease Risk Among 451 180 Individuals in the UK Biobank.15
367810812023Acute IL-6 exposure triggers canonical IL6Ra signaling in hiPSC microglia, but not neural progenitor cells.5
370528552023The Role of the Soluble Interleukin-6 Receptor in the Progression of Nonalcoholic Fatty Liver Disease.3
371535722023Inflammatory bowel diseases, interleukin-6 and interleukin-6 receptor subunit alpha in causal association with cerebral cortical structure: a Mendelian randomization analysis.6
372432822023Association of Polymorphisms of IL-6 Pathway Genes (IL6, IL6R and IL6ST) with COVID-19 Severity in an Amazonian Population.2

Citation

Dessen P

IL6R (interleukin 6 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40963/js/lib/gene-fusions-explorer/