IL6R interleukin 6 receptor [Homo sapiens] - Gene

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Summary

Official Symbol: IL6Rprovided by HGNC
Official Full Name: interleukin 6 receptorprovided by HGNC
Primary source: HGNC:6019
See related: Ensembl:ENSG00000160712; HPRD:01000; MIM:147880; Vega:OTTHUMG00000036073
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: gp80; CD126; IL6RA; IL-6RA; IL-6R-1; MGC104991
Summary: 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 reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011]

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Genomic context

Location :: 1q21

Sequence :: Chromosome: 1; NC_000001.10 (154377669..154441926)

See IL6R in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

No significant associations were found among IL-6 genotype and the related cytokine serum levels as risk factor for sepsis development in burned patients
Title: Analysis of IL-6, IL-10 and IL-17 genetic polymorphisms as risk factors for sepsis development in burned patients.
Improvement of sleep quality after tocilizumab treatment in patients with RA does not appear to directly result from decreased disease activity, suggesting that aberrant IL-6 receptor regulation is associated with sleep disturbances.
Title: Sleep disturbances and interleukin 6 receptor inhibition in rheumatoid arthritis.
We assessed Asp358Ala in relation to localised gene expression and to postlipopolysaccharide stimulation of interleukin 6.
Title: Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies.
Single nucleotide polymorphisms rs1143634 of IL-1beta and rs8192284 of IL-6 receptor act as susceptibility variations in Korean non-Sjogren dry eye patients.
Title: Proinflammatory gene polymorphisms are potentially associated with Korean non-Sjogren dry eye patients.
Report improved endothelial dysfunction and aortic stiffness in rheumatoid arthritis patients treated with Il-6 receptor antibody.
Title: A pilot study of endothelial dysfunction and aortic stiffness after interleukin-6 receptor inhibition in rheumatoid arthritis.
Data show that the presence of schizophrenia is associated with elevated IL-6 levels, whereas sIL-6R levels are mainly predetermined by the Asp358Ala genotype and are not associated with the disease status.
Title: Association of plasma IL-6 and soluble IL-6 receptor levels with the Asp358Ala polymorphism of the IL-6 receptor gene in schizophrenic patients.
High serum IL-6 Receptor and single nucleotide polymorphism along with 1q21 amplification is associated with multiple myeloma
Title: An intermediate-risk multiple myeloma subgroup is defined by sIL-6r: levels synergistically increase with incidence of SNP rs2228145 and 1q21 amplification.
results do not confirm an association of IL6R rs2228145 and IL6ST/gp130 rs2228044 polymorphisms with CV disease in RA.
Title: Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascular disease in patients with rheumatoid arthritis.
Maximum post-operative concentrations of hepcidin correlated positively with maximum IL-6 levels
Title: Plasma hepcidin correlates positively with interleukin-6 in patients undergoing pulmonary endarterectomy.
It was identified genetic association in Interleukin-6 Receptors with atrial fibrillation in whites.
Title: Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) project.

Submit: New GeneRIF Correction See all (132)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Framingham Heart Study genome-wide association: results for pulmonary function measures.

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Antibodies against cell surface molecules LFA-1, ICAM-1, HLA-DR, and CD28 inhibit the HIV-1 gp160-induced B cell differentiation response; gp160 also induces IL-6R and CD23 molecule expression on B cells	PubMed
Tat	tat	Ectopic expression of HIV-1 Tat induces the production of human IL-6 (huIL-6) and its receptor (huIL-6Ra) and activates STAT3 signaling; these effects are involved in Tat-mediated activation of Kaposi's sarcoma-associated herpesvirus (KSHV) replication	PubMed
	tat	IL-6 and IL-6 receptor are upregulated in human epithelial cells by HIV-1 Tat treatment	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000556.1	NP_000591.1	IL6	BIND	PubMed	IL6 interacts with IL6R (IL-6R-alpha)
P08887	P26441	CNTF	HPRD	PubMed
P08887	Q9NZ08	ERAP1	HPRD	PubMed
P08887	P05231	IL6	HPRD	PubMed
P08887	P08887	IL6R	HPRD	PubMed
P08887	P40189	IL6ST	HPRD	PubMed
P08887	Q96QZ7	MAGI1	HPRD	PubMed
P08887	P12931	SRC	HPRD	PubMed
P08887	P40763	STAT3	HPRD	PubMed
P08887	Q9H0M0	WWP1	HPRD	PubMed
P08887	O00308	WWP2	HPRD	PubMed
BioGRID:109784	BioGRID:107670	CNTF	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109784	BioGRID:109783	IL6	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109784	BioGRID:109786	IL6ST	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109784	BioGRID:112651	STAT3	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ciliary neurotrophic factor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ciliary neurotrophic factor receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
interleukin-6 binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-6 receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to interleukin-6 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acute-phase response	TAS Traceable Author Statement more info	PubMed
cell growth	IEA Inferred from Electronic Annotation more info
ciliary neurotrophic factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
defense response to Gram-negative bacterium	IEP Inferred from Expression Pattern more info	PubMed
defense response to Gram-positive bacterium	IEP Inferred from Expression Pattern more info	PubMed
endocrine pancreas development	IC Inferred by Curator more info	PubMed
endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
hepatic immune response	TAS Traceable Author Statement more info	PubMed
interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
interleukin-6-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
monocyte chemotaxis	IC Inferred by Curator more info	PubMed
negative regulation of collagen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of interleukin-8 production	IEP Inferred from Expression Pattern more info	PubMed
neutrophil mediated immunity	IC Inferred by Curator more info	PubMed
positive regulation of JAK-STAT cascade	IEA Inferred from Electronic Annotation more info
positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
NOT positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of activation of Janus kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of anti-apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
positive regulation of leukocyte chemotaxis	IC Inferred by Curator more info	PubMed
positive regulation of leukocyte chemotaxis	TAS Traceable Author Statement more info	PubMed
positive regulation of osteoblast differentiation	TAS Traceable Author Statement more info	PubMed
positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of tyrosine phosphorylation of Stat3 protein	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
response to cAMP	IEA Inferred from Electronic Annotation more info
response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
response to ethanol	IEA Inferred from Electronic Annotation more info
response to gamma radiation	IEA Inferred from Electronic Annotation more info
response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
cell surface	IEA Inferred from Electronic Annotation more info
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
extracellular space	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
interleukin-6 receptor complex	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: interleukin-6 receptor subunit alpha

Names: interleukin-6 receptor subunit alpha; IL-6R 1; CD126 antigen; membrane glycoprotein 80; IL-6 receptor subunit alpha

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012087.1 RefSeqGene

Range

5001..69258

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000565.3 → NP_000556.1 interleukin-6 receptor subunit alpha isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA035377, AL162591, BC132684, X12830

Consensus CDS

CCDS1067.1

UniProtKB/TrEMBL

A0N0L5

UniProtKB/Swiss-Prot

P08887

Related

ENSP00000357470, OTTHUMP00000034320, ENST00000368485, OTTHUMT00000087911

Conserved Domains (3) summary

cd00063
Location:216 – 308
Blast Score: 108

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:39 – 97
Blast Score: 150

Ig; Immunoglobulin domain

cl12153
Location:113 – 213
Blast Score: 219

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_001206866.1 → NP_001193795.1 interleukin-6 receptor subunit alpha isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AL162591, BC035327, X12830

UniProtKB/Swiss-Prot

P08887

Conserved Domains (3) summary

cd00063
Location:216 – 308
Blast Score: 107

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:39 – 97
Blast Score: 148

Ig; Immunoglobulin domain

cl12153
Location:113 – 213
Blast Score: 213

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
NM_181359.2 → NP_852004.1 interleukin-6 receptor subunit alpha isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AA035377, AL162591, BC089410, X12830

Consensus CDS

CCDS1068.1

UniProtKB/Swiss-Prot

P08887

Related

ENSP00000340589, OTTHUMP00000217867, ENST00000344086, OTTHUMT00000359899

Conserved Domains (3) summary

cd00063
Location:216 – 308
Blast Score: 109

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:39 – 97
Blast Score: 148

Ig; Immunoglobulin domain

cl12153
Location:113 – 213
Blast Score: 216

IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

154377669..154441926

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

125740964..125805584

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF104230.1	None
genomic	AL162591.16	CAH72853.1
genomic	CH471121.2	EAW53199.1
		EAW53200.1
		EAW53201.1
genomic	CS068586.1	CAI84624.1
genomic	EF064723.1	ABK41906.1
mRNA	AA035377.1	None
mRNA	AK223582.1	BAD97302.1
mRNA	AK293013.1	BAF85702.1
mRNA	AK312730.1	BAG35601.1
mRNA	BC035327.1	None
mRNA	BC089410.1	AAH89410.1
mRNA	BC132684.1	AAI32685.1
mRNA	BC132686.1	AAI32687.1
mRNA	BM911928.1	None
mRNA	S72848.1	AAC60635.1
mRNA	X12830.1	CAA31312.1
mRNA	X58298.1	CAA41231.1
other-genetic	HQ258435.1	ADR83189.1
other-genetic	HQ258616.1	ADR83368.1