Human Gene IL6R (ENST00000368485.8_8) from GENCODE V47lift37
  Description: interleukin 6 receptor, transcript variant 9 (from RefSeq NM_001382774.1)
Gencode Transcript: ENST00000368485.8_8
Gencode Gene: ENSG00000160712.13_13
Transcript (Including UTRs)
   Position: hg19 chr1:154,377,819-154,441,926 Size: 64,108 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:154,378,106-154,437,856 Size: 59,751 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,377,819-154,441,926)mRNA (may differ from genome)Protein (468 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IL6RA_HUMAN
DESCRIPTION: RecName: Full=Interleukin-6 receptor subunit alpha; Short=IL-6 receptor subunit alpha; Short=IL-6R subunit alpha; Short=IL-6R-alpha; Short=IL-6RA; AltName: Full=IL-6R 1; AltName: Full=Membrane glycoprotein 80; Short=gp80; AltName: CD_antigen=CD126; Flags: Precursor;
FUNCTION: Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis.
FUNCTION: Low concentration of a soluble form of IL6 receptor acts as an agonist of IL6 activity.
SUBUNIT: Hexamer of two molecules each of IL6, IL6R and IL6ST.
SUBCELLULAR LOCATION: Isoform 1: Basolateral cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted.
TISSUE SPECIFICITY: Isoform 2 is expressed in peripheral blood mononuclear cells and weakly found in urine and serum.
DOMAIN: The two fibronectin type-III-like domains, contained in the N-terminal part, form together a cytokine-binding domain.
DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding.
PTM: A short soluble form may also be released from the membrane by proteolysis.
POLYMORPHISM: Genetic variations in IL6R determine soluble IL6R serum levels [MIM:614689].
POLYMORPHISM: Genetic variations in IL6R define the IL6 serum level quantitative trait locus [MIM:614752].
SIMILARITY: Belongs to the type I cytokine receptor family. Type 3 subfamily.
SIMILARITY: Contains 1 fibronectin type-III domain.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  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 -136.00287-0.474 Picture PostScript Text
3' UTR -1369.944070-0.337 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
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR003530 - Hematopoietin_rcpt_L_F3_CS
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003598 - Ig_sub2
IPR015321 - IL6_recept-bd

Pfam Domains:
PF00047 - Immunoglobulin domain
PF09240 - Interleukin-6 receptor alpha chain, binding

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1N26 - X-ray MuPIT 1N2Q - Model 1P9M - X-ray MuPIT 2ARW - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P08887
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004896 cytokine receptor activity
GO:0004915 interleukin-6 receptor activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0019981 interleukin-6 binding
GO:0042803 protein homodimerization activity
GO:0070119 ciliary neurotrophic factor binding
GO:0004897 ciliary neurotrophic factor receptor activity
GO:0005138 interleukin-6 receptor binding

Biological Process:
GO:0002384 hepatic immune response
GO:0002446 neutrophil mediated immunity
GO:0002548 monocyte chemotaxis
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0006953 acute-phase response
GO:0008284 positive regulation of cell proliferation
GO:0010536 positive regulation of activation of Janus kinase activity
GO:0019221 cytokine-mediated signaling pathway
GO:0031018 endocrine pancreas development
GO:0032717 negative regulation of interleukin-8 production
GO:0032722 positive regulation of chemokine production
GO:0032755 positive regulation of interleukin-6 production
GO:0032966 negative regulation of collagen biosynthetic process
GO:0034097 response to cytokine
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0043410 positive regulation of MAPK cascade
GO:0045669 positive regulation of osteoblast differentiation
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium
GO:0070102 interleukin-6-mediated signaling pathway
GO:0070120 ciliary neurotrophic factor-mediated signaling pathway
GO:0097191 extrinsic apoptotic signaling pathway
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005896 interleukin-6 receptor complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0070110 ciliary neurotrophic factor receptor complex


-  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.
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
  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: A8KAE8, B2R6V4, ENST00000368485.1, ENST00000368485.2, ENST00000368485.3, ENST00000368485.4, ENST00000368485.5, ENST00000368485.6, ENST00000368485.7, IL6R , IL6RA_HUMAN, NM_001382774, P08887, Q16202, Q53EQ7, Q5FWG2, Q5VZ23, uc318gus.1, uc318gus.2
UCSC ID: ENST00000368485.8_8
RefSeq Accession: NM_000565.4
Protein: P08887 (aka IL6RA_HUMAN or IL6A_HUMAN)

-  Gene Model Information
  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.