Human Gene IL6R (uc001ffa.2) Description and Page Index
  Description: Homo sapiens interleukin 6 receptor (IL6R), transcript variant 2, mRNA.
RefSeq Summary (NM_181359): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:154,377,669-154,441,926 Size: 64,258 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr1:154,378,106-154,437,641 Size: 59,536 Coding Exon Count: 9 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,377,669-154,441,926)mRNA (may differ from genome)Protein (365 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IL6R
CDC HuGE Published Literature: IL6R
Positive Disease Associations: Asthma , body mass metabolic syndrome , C-reactive protein , celiac disease , Coronary Artery Disease , diabetes, type 2 , diabetes, type 2; glucose tolerance; obesity , fibrinogen , Maximal Midexpiratory Flow Rate , obesity; hyperandrogenism , protein quantitative trait loci , pulmonary function traits (other) , Receptors, Interleukin-6
Related Studies:
  1. Asthma
    Manuel A R Ferreira et al. Lancet 2011, Identification of IL6R and chromosome 11q13.5 as risk loci for asthma., Lancet. [PubMed 21907864]
    The IL6R association further supports the hypothesis that cytokine signalling dysregulation affects asthma risk, and raises the possibility that an IL6R antagonist (tocilizumab) may be effective to treat the disease, perhaps in a genotype-dependent manner. Results for the 11q13.5 locus suggest that it directly increases the risk of allergic sensitisation which, in turn, increases the risk of subsequent development of asthma. Larger or more functionally focused studies are needed to characterise the many loci with modest effects that remain to be identified for asthma.
  2. body mass metabolic syndrome
    Esteve, E. et al. 2006, Polymorphisms in the interleukin-6 receptor gene are associated with body mass index and with characteristics of the metabolic syndrome, Clin Endocrinol (Oxf) 2006 65(1) 88-91. [PubMed 16817825]
    The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with obesity and characteristics of the metabolic syndrome in our population of Mediterranean subjects.
  3. C-reactive protein
    Elliott ,et al. 2009, Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease, JAMA 2009 302- 1 : 37-48. [PubMed 19567438]
    The lack of concordance between the effect on coronary heart disease risk of CRP genotypes and CRP levels argues against a causal association of CRP with coronary heart disease.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IL6R
Diseases sorted by gene-association score: castleman disease (18), pycnodysostosis (14), lung giant cell carcinoma (13), plasmacytoma (10), multiple myeloma (10), cerebral meningioma (9), opisthorchiasis (8), joint disorders (6), preterm premature rupture of the membranes (6), human herpesvirus 8 (5), megakaryocytic leukemia (5), rhizomelic chondrodysplasia punctata, type 1 (4), hepatocellular carcinoma (3), prostate cancer (2), colorectal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.99 RPKM in Muscle - Skeletal
Total median expression: 328.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -218.40437-0.500 Picture PostScript Text
3' UTR -1508.734285-0.352 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00047 - Immunoglobulin domain
PF09240 - Interleukin-6 receptor alpha chain, binding

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

ModBase Predicted Comparative 3D Structure on P08887-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  X12830 - Human mRNA for interleukin-6 (IL-6) receptor.
BC089410 - Homo sapiens interleukin 6 receptor, mRNA (cDNA clone MGC:104991 IMAGE:3078506), complete cds.
AK223582 - Homo sapiens mRNA for interleukin 6 receptor isoform 1 precursor variant, clone: FCC130B11.
BC132684 - Homo sapiens interleukin 6 receptor, mRNA (cDNA clone MGC:164315 IMAGE:40146706), complete cds.
BC132686 - Homo sapiens interleukin 6 receptor, mRNA (cDNA clone MGC:164317 IMAGE:40146708), complete cds.
E02673 - cDNA encoding human B cell stimulating factor 2 receptor protein.
E04823 - cDNA encoding interleukin 6 receptor.
AK293013 - Homo sapiens cDNA FLJ75333 complete cds, highly similar to Homo sapiens interleukin 6 receptor (IL6R), transcript variant 2, mRNA.
X58298 - Human mRNA for interleukin-6-receptor.
AK312730 - Homo sapiens cDNA, FLJ93136, highly similar to Homo sapiens interleukin 6 receptor (IL6R), mRNA.
BC035327 - Homo sapiens, clone IMAGE:5183790, mRNA.
KJ891457 - Synthetic construct Homo sapiens clone ccsbBroadEn_00851 IL6R gene, encodes complete protein.
AB527867 - Synthetic construct DNA, clone: pF1KB0415, Homo sapiens IL6R gene for interleukin 6 receptor, without stop codon, in Flexi system.
HQ258435 - Synthetic construct Homo sapiens clone IMAGE:100072864 interleukin 6 receptor (IL6R) gene, encodes complete protein.
HQ258616 - Synthetic construct Homo sapiens clone IMAGE:100073165 interleukin 6 receptor (IL6R) gene, encodes complete protein.
KJ891456 - Synthetic construct Homo sapiens clone ccsbBroadEn_00850 IL6R gene, encodes complete protein.
KJ905808 - Synthetic construct Homo sapiens clone ccsbBroadEn_15478 IL6R gene, encodes complete protein.
LF206191 - JP 2014500723-A/13694: Polycomb-Associated Non-Coding RNAs.
LF211909 - JP 2014500723-A/19412: Polycomb-Associated Non-Coding RNAs.
JD487582 - Sequence 468606 from Patent EP1572962.
JD396535 - Sequence 377559 from Patent EP1572962.
JD396536 - Sequence 377560 from Patent EP1572962.
JD316219 - Sequence 297243 from Patent EP1572962.
JD395649 - Sequence 376673 from Patent EP1572962.
JD151748 - Sequence 132772 from Patent EP1572962.
JD224955 - Sequence 205979 from Patent EP1572962.
JD485705 - Sequence 466729 from Patent EP1572962.
JD128808 - Sequence 109832 from Patent EP1572962.
E09007 - DNA sequence around start codon of human IL-6 receptor gene.
MA441768 - JP 2018138019-A/13694: Polycomb-Associated Non-Coding RNAs.
MA447486 - JP 2018138019-A/19412: Polycomb-Associated Non-Coding RNAs.
S72848 - sIL-6R=Soluble interleukin-6 receptor {alternatively spliced} [human, peripheral blood mononuclear cells (PBMC), mRNA Partial, 162 nt].
JD496291 - Sequence 477315 from Patent EP1572962.
JD103396 - Sequence 84420 from Patent EP1572962.
JD467523 - Sequence 448547 from Patent EP1572962.
JD489791 - Sequence 470815 from Patent EP1572962.
JD212045 - Sequence 193069 from Patent EP1572962.
JD197223 - Sequence 178247 from Patent EP1572962.
CQ873856 - Sequence 275 from Patent WO2004076622.
DD413693 - Regulation of Mammalian Cells.
JD038707 - Sequence 19731 from Patent EP1572962.
JD184372 - Sequence 165396 from Patent EP1572962.
JD311600 - Sequence 292624 from Patent EP1572962.
JD300207 - Sequence 281231 from Patent EP1572962.
JD381073 - Sequence 362097 from Patent EP1572962.
JD163712 - Sequence 144736 from Patent EP1572962.
JD308617 - Sequence 289641 from Patent EP1572962.
JD515542 - Sequence 496566 from Patent EP1572962.
JD078925 - Sequence 59949 from Patent EP1572962.
JD062388 - Sequence 43412 from Patent EP1572962.
JD065468 - Sequence 46492 from Patent EP1572962.
JD065565 - Sequence 46589 from Patent EP1572962.
JD391135 - Sequence 372159 from Patent EP1572962.
JD040755 - Sequence 21779 from Patent EP1572962.
JD259863 - Sequence 240887 from Patent EP1572962.
JD415306 - Sequence 396330 from Patent EP1572962.
JD301924 - Sequence 282948 from Patent EP1572962.
JD429332 - Sequence 410356 from Patent EP1572962.
JD057007 - Sequence 38031 from Patent EP1572962.
JD368557 - Sequence 349581 from Patent EP1572962.
JD164389 - Sequence 145413 from Patent EP1572962.
JD257081 - Sequence 238105 from Patent EP1572962.
JD180540 - Sequence 161564 from Patent EP1572962.
JD079346 - Sequence 60370 from Patent EP1572962.
JD564593 - Sequence 545617 from Patent EP1572962.
JD558549 - Sequence 539573 from Patent EP1572962.
JD514260 - Sequence 495284 from Patent EP1572962.
JD105899 - Sequence 86923 from Patent EP1572962.
JD482860 - Sequence 463884 from Patent EP1572962.
JD376697 - Sequence 357721 from Patent EP1572962.
JD259013 - Sequence 240037 from Patent EP1572962.
JD334247 - Sequence 315271 from Patent EP1572962.
JD312463 - Sequence 293487 from Patent EP1572962.
JD199683 - Sequence 180707 from Patent EP1572962.
JD266509 - Sequence 247533 from Patent EP1572962.
JD344083 - Sequence 325107 from Patent EP1572962.
JD498268 - Sequence 479292 from Patent EP1572962.
JD149458 - Sequence 130482 from Patent EP1572962.
JD219960 - Sequence 200984 from Patent EP1572962.
JD244454 - Sequence 225478 from Patent EP1572962.
JD252675 - Sequence 233699 from Patent EP1572962.
JD392381 - Sequence 373405 from Patent EP1572962.
JD047833 - Sequence 28857 from Patent EP1572962.
JD137270 - Sequence 118294 from Patent EP1572962.
JD399398 - Sequence 380422 from Patent EP1572962.
JD279992 - Sequence 261016 from Patent EP1572962.
JD392323 - Sequence 373347 from Patent EP1572962.
JD528402 - Sequence 509426 from Patent EP1572962.
JD563239 - Sequence 544263 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04630 - Jak-STAT signaling pathway
hsa04640 - Hematopoietic cell lineage

BioCarta from NCI Cancer Genome Anatomy Project
h_il6Pathway - IL 6 signaling pathway
h_her2Pathway - Role of ERBB2 in Signal Transduction and Oncology

Reactome (by CSHL, EBI, and GO)

Protein P08887 (Reactome details) participates in the following event(s):

R-HSA-1067667 IL6 binds IL6R
R-HSA-1067688 IL6:IL6R binds IL6ST:JAK1,JAK2,(TYK2)
R-HSA-1067659 Assembly of hexameric IL-6 receptor
R-HSA-1112565 Tyrosine phosphorylated IL6ST binds STAT1,STAT3
R-HSA-1112708 PTPN11 binds p-Y759-IL6ST
R-HSA-1112755 SOCS3 binds IL6ST
R-HSA-1112604 Phosphorylated STATs are released
R-HSA-1112602 Tyrosine phosphorylation of STAT1, STAT3 by IL6 receptor
R-HSA-1112703 PTPN11 is phosphorylated
R-HSA-1112690 PTPN11 binds CBL
R-HSA-1059683 Interleukin-6 signaling
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-6783589 Interleukin-6 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System
R-HSA-1067640 IL6 binds IL6R-2
R-HSA-1067651 IL6:IL6R-2 binds IL6ST:JAK1, JAK2, (TYK2)
R-HSA-1067676 IL6:IL6R-2 binds IL6ST-2
R-HSA-1067659 Assembly of hexameric IL-6 receptor
R-HSA-1112565 Tyrosine phosphorylated IL6ST binds STAT1,STAT3
R-HSA-1112708 PTPN11 binds p-Y759-IL6ST
R-HSA-1112755 SOCS3 binds IL6ST
R-HSA-1112604 Phosphorylated STATs are released
R-HSA-1112602 Tyrosine phosphorylation of STAT1, STAT3 by IL6 receptor
R-HSA-1112703 PTPN11 is phosphorylated
R-HSA-1112690 PTPN11 binds CBL
R-HSA-1059683 Interleukin-6 signaling
R-HSA-6783589 Interleukin-6 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_181359, NP_852004, P08887-2
UCSC ID: uc001ffa.2
RefSeq Accession: NM_181359
Protein: P08887-2, splice isoform of P08887 CCDS: CCDS1068.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_181359.2
exon count: 9CDS single in 3' UTR: no RNA size: 5834
ORF size: 1098CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2246.50frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.