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IL6R interleukin 6 receptor [ Homo sapiens (human) ]

Gene ID: 3570, updated on 21-Jan-2020

Summary

Official Symbol
IL6Rprovided by HGNC
Official Full Name
interleukin 6 receptorprovided by HGNC
Primary source
HGNC:HGNC:6019
See related
Ensembl:ENSG00000160712 MIM:147880
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
IL6Q; gp80; CD126; IL6RA; IL6RQ; IL-6RA; IL-6R-1
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]
Expression
Ubiquitous expression in appendix (RPKM 12.7), lymph node (RPKM 12.1) and 24 other tissues See more
Orthologs

Genomic context

See IL6R in Genome Data Viewer
Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154405193..154469450)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154377669..154441926)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 8B2 Neighboring gene RNA, U7 small nuclear 57 pseudogene Neighboring gene mitochondrial ribosomal protein S33 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 17 Neighboring gene IL6R antisense RNA 1 Neighboring gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1 Neighboring gene Src homology 2 domain containing E Neighboring gene tudor domain containing 10 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ubiquitin conjugating enzyme E2 Q1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Interleukin 6, serum level of, quantitative trait locus
MedGen: C3540094 OMIM: 614752 GeneReviews: Not available
Compare labs
Soluble interleukin-6 receptor, serum level of, quantitative trait locus
MedGen: C3553493 OMIM: 614689 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.
NHGRI GWA Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Framingham Heart Study genome-wide association: results for pulmonary function measures.
NHGRI GWA Catalog
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
NHGRI GWA Catalog
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog
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.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of interleukin 6 receptor (IL6R) in human B cells PubMed
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 herpes virus (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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104991

Gene Ontology Provided by GOA

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 
cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
interleukin-6 binding IBA
Inferred from Biological aspect of Ancestor
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 
Process Evidence Code Pubs
acute-phase response TAS
Traceable Author Statement
more info
PubMed 
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 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response to Gram-negative bacterium TAS
Traceable Author Statement
more info
PubMed 
endocrine pancreas development IC
Inferred by Curator
more info
PubMed 
endocrine pancreas development IMP
Inferred from Mutant Phenotype
more info
PubMed 
extrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
hepatic immune response TAS
Traceable Author Statement
more info
PubMed 
interleukin-6-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-6-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-6-mediated signaling pathway TAS
Traceable Author Statement
more info
 
monocyte chemotaxis IC
Inferred by Curator
more info
PubMed 
positive regulation of activation of Janus kinase activity IBA
Inferred from Biological aspect of Ancestor
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 glomerular mesangial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-6 production IDA
Inferred from Direct Assay
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 STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to cytokine IDA
Inferred from Direct Assay
more info
PubMed 
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
 
ciliary neurotrophic factor receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
interleukin-6 receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-6 receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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

  1. NG_012087.1 RefSeqGene

    Range
    5151..69258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000565.4NP_000556.1  interleukin-6 receptor subunit alpha isoform 1 precursor

    See identical proteins and their annotated locations for NP_000556.1

    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/Swiss-Prot
    P08887
    UniProtKB/TrEMBL
    A0N0L5
    Related
    ENSP00000357470.3, ENST00000368485.8
    Conserved Domains (3) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    cd00063
    Location:216308
    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 ...
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  2. NM_001206866.1NP_001193795.1  interleukin-6 receptor subunit alpha isoform 3 precursor

    See identical proteins and their annotated locations for NP_001193795.1

    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
    Consensus CDS
    CCDS72927.1
    UniProtKB/Swiss-Prot
    P08887
    UniProtKB/TrEMBL
    A0A087WTB5
    Related
    ENSP00000477739.1, ENST00000622330.4
    Conserved Domains (4) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:33110
    IG_like; Immunoglobulin like
    cd00063
    Location:216308
    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 ...
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. NM_181359.3NP_852004.1  interleukin-6 receptor subunit alpha isoform 2 precursor

    See identical proteins and their annotated locations for NP_852004.1

    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
    Consensus CDS
    CCDS1068.1
    UniProtKB/Swiss-Prot
    P08887
    Related
    ENSP00000340589.4, ENST00000344086.8
    Conserved Domains (3) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    cd00063
    Location:216308
    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 ...
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    154405193..154469450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001199.2XP_016856688.1  interleukin-6 receptor subunit alpha isoform X1

  2. XM_006711298.2XP_006711361.1  interleukin-6 receptor subunit alpha isoform X3

    See identical proteins and their annotated locations for XP_006711361.1

    Conserved Domains (4) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:33110
    IG_like; Immunoglobulin like
    cd00063
    Location:216308
    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 ...
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  3. XM_017001200.2XP_016856689.1  interleukin-6 receptor subunit alpha isoform X2

  4. XM_005245139.2XP_005245196.1  interleukin-6 receptor subunit alpha isoform X6

    Conserved Domains (4) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:216277
    FN3; Fibronectin type 3 domain
    smart00410
    Location:33110
    IG_like; Immunoglobulin like
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  5. XM_017001201.2XP_016856690.1  interleukin-6 receptor subunit alpha isoform X5

  6. XM_005245140.3XP_005245197.1  interleukin-6 receptor subunit alpha isoform X7

    See identical proteins and their annotated locations for XP_005245197.1

    Conserved Domains (4) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:216277
    FN3; Fibronectin type 3 domain
    smart00410
    Location:33110
    IG_like; Immunoglobulin like
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
  7. XM_006711299.4XP_006711362.1  interleukin-6 receptor subunit alpha isoform X4

    Conserved Domains (4) summary
    smart00408
    Location:3997
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:33110
    IG_like; Immunoglobulin like
    cd00063
    Location:216308
    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 ...
    pfam09240
    Location:118213
    IL6Ra-bind; Interleukin-6 receptor alpha chain, binding
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