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Aliases for IL6R Gene

Aliases for IL6R Gene

  • Interleukin 6 Receptor 2 3 5
  • IL-6 Receptor Subunit Alpha 3 4
  • Membrane Glycoprotein 80 3 4
  • CD126 Antigen 3 4
  • IL-6R 1 3 4
  • IL-6RA 3 4
  • Gp80 3 4
  • Interleukin-6 Receptor Subunit Alpha 3
  • IL-6R Subunit Alpha 4
  • IL-6R-Alpha 4
  • IL-6R-1 3
  • CD126 3
  • IL6RA 3
  • IL6RQ 3
  • IL6Q 3

External Ids for IL6R Gene

Previous GeneCards Identifiers for IL6R Gene

  • GC01P152194
  • GC01P150108
  • GC01P151152
  • GC01P151594
  • GC01P151190
  • GC01P152644
  • GC01P125740

Summaries for IL6R Gene

Entrez Gene Summary for IL6R Gene

  • 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]

GeneCards Summary for IL6R Gene

IL6R (Interleukin 6 Receptor) is a Protein Coding gene. Diseases associated with IL6R include Soluble Interleukin-6 Receptor, Serum Level Of, Quantitative Trait Locus and Interleukin 6, Serum Level Of, Quantitative Trait Locus. Among its related pathways are PEDF Induced Signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and interleukin-6 receptor binding. An important paralog of this gene is IL11RA.

UniProtKB/Swiss-Prot for IL6R Gene

  • 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.

  • Low concentration of a soluble form of IL6 receptor acts as an agonist of IL6 activity.

Gene Wiki entry for IL6R Gene

Additional gene information for IL6R Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL6R Gene

Genomics for IL6R Gene

GeneHancer (GH) Regulatory Elements for IL6R Gene

Promoters and enhancers for IL6R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I154404 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.2 2189 5.8 HDGF FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 LOC101928101 IL6R IL6R-AS1 ATP8B2 RNU7-57P UBE2Q1-AS1 UBE2Q1 SHE TDRD10 SNORA58B
GH01I154403 Enhancer 1 Ensembl ENCODE dbSUPER 550.8 -1.6 -1592 0.8 SMARCA5 MAX ZNF644 SKI ZNF366 POLR2A ZFP36 SMAD4 HNF4A ZBTB17 IL6R RNU7-57P ATP8B2 IL6R-AS1 LOC101928101 ENSG00000237920
GH01I154429 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 37.4 +27.3 27283 5.8 PKNOX1 ATF1 FOS ATF7 GMEB1 SMARCA4 ZNF184 KDM1A SP7 MEIS2 IL6R ADAR UBAP2L KRTCAP2 C1orf43 CRTC2 PSMD8P1 ENSG00000273110
GH01I154417 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +15.9 15886 6.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 IL6R TDRD10 FAM189B ENSG00000272654 CRTC2 ADAR UBAP2L KRTCAP2 S100A1 GATAD2B
GH01I154479 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.5 +74.8 74808 0.8 RB1 ARNT ARID4B ZNF2 RAD21 RFX5 YY1 CHAMP1 ZNF335 ZNF121 ENSG00000273110 IL6R UBE2Q1-AS1 UBE2Q1 SHE TDRD10 IL6R-AS1 CHRNB2 ILF2 CHTOP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IL6R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL6R gene promoter:

Genomic Locations for IL6R Gene

Genomic Locations for IL6R Gene
chr1:154,405,193-154,469,450
(GRCh38/hg38)
Size:
64,258 bases
Orientation:
Plus strand
chr1:154,377,669-154,441,926
(GRCh37/hg19)

Genomic View for IL6R Gene

Genes around IL6R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL6R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL6R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL6R Gene

Proteins for IL6R Gene

  • Protein details for IL6R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08887-IL6RA_HUMAN
    Recommended name:
    Interleukin-6 receptor subunit alpha
    Protein Accession:
    P08887
    Secondary Accessions:
    • A8KAE8
    • B2R6V4
    • Q16202
    • Q53EQ7
    • Q5FWG2
    • Q5VZ23

    Protein attributes for IL6R Gene

    Size:
    468 amino acids
    Molecular mass:
    51548 Da
    Quaternary structure:
    • Hexamer of two molecules each of IL6, IL6R and IL6ST.

    Three dimensional structures from OCA and Proteopedia for IL6R Gene

    Alternative splice isoforms for IL6R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL6R Gene

Post-translational modifications for IL6R Gene

  • A short soluble form may also be released from the membrane by proteolysis.
  • Glycosylation at isoforms=255, isoforms=293, and isoforms=2221

Antibody Products

  • Abcam antibodies for IL6R
  • Santa Cruz Biotechnology (SCBT) Antibodies for IL6R

No data available for DME Specific Peptides for IL6R Gene

Domains & Families for IL6R Gene

Gene Families for IL6R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for IL6R Gene

Graphical View of Domain Structure for InterPro Entry

P08887

UniProtKB/Swiss-Prot:

IL6RA_HUMAN :
  • The two fibronectin type-III-like domains, contained in the N-terminal part, form together a cytokine-binding domain.
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
Domain:
  • The two fibronectin type-III-like domains, contained in the N-terminal part, form together a cytokine-binding domain.
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
genes like me logo Genes that share domains with IL6R: view

Function for IL6R Gene

Molecular function for IL6R Gene

GENATLAS Biochemistry:
interleukin 6,receptor,alpha subunit,low activity receptor,heterodimerizing with IL6ST
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Low concentration of a soluble form of IL6 receptor acts as an agonist of IL6 activity.

Phenotypes From GWAS Catalog for IL6R Gene

Gene Ontology (GO) - Molecular Function for IL6R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0004897 contributes_to ciliary neurotrophic factor receptor activity IMP 12643274
GO:0004915 contributes_to interleukin-6 receptor activity IDA 2261637
GO:0005138 contributes_to interleukin-6 receptor binding IPI 12829785
GO:0005515 protein binding IPI 11238858
genes like me logo Genes that share ontologies with IL6R: view
genes like me logo Genes that share phenotypes with IL6R: view

Animal Models for IL6R Gene

MGI Knock Outs for IL6R:

Animal Model Products

miRNA for IL6R Gene

miRTarBase miRNAs that target IL6R

Clone Products

  • Addgene plasmids for IL6R

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IL6R Gene

Localization for IL6R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL6R Gene

Isoform 1: Basolateral cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL6R gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IL6R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0005896 interleukin-6 receptor complex IDA 2261637
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IL6R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL6R Gene

Pathways & Interactions for IL6R Gene

genes like me logo Genes that share pathways with IL6R: view

SIGNOR curated interactions for IL6R Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL6R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002384 hepatic immune response TAS 12832423
GO:0002548 monocyte chemotaxis IC 10510402
GO:0002690 positive regulation of leukocyte chemotaxis TAS 15100312
GO:0006953 acute-phase response TAS 12832423
GO:0008284 positive regulation of cell proliferation IMP 18719127
genes like me logo Genes that share ontologies with IL6R: view

Drugs & Compounds for IL6R Gene

(27) Drugs for IL6R Gene - From: DrugBank, PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tocilizumab Approved Pharma Target, antibody, immunotherapy Immunotherapies 0
Sarilumab Approved, Investigational Pharma Target, antagonist, antibody 0
Sirukumab Investigational Pharma 0
ALC-0061 Pharma 0

(24) Additional Compounds for IL6R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL6R: view

Transcripts for IL6R Gene

Unigene Clusters for IL6R Gene

Interleukin 6 receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for IL6R

Alternative Splicing Database (ASD) splice patterns (SP) for IL6R Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3:
SP4: - -
SP5: -

Relevant External Links for IL6R Gene

GeneLoc Exon Structure for
IL6R
ECgene alternative splicing isoforms for
IL6R

Expression for IL6R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL6R Gene

mRNA differential expression in normal tissues according to GTEx for IL6R Gene

This gene is overexpressed in Whole Blood (x11.4) and Muscle - Skeletal (x9.3).

Protein differential expression in normal tissues from HIPED for IL6R Gene

This gene is overexpressed in Nasal epithelium (56.1) and Serum (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL6R Gene



Protein tissue co-expression partners for IL6R Gene

NURSA nuclear receptor signaling pathways regulating expression of IL6R Gene:

IL6R

SOURCE GeneReport for Unigene cluster for IL6R Gene:

Hs.135087

mRNA Expression by UniProt/SwissProt for IL6R Gene:

P08887-IL6RA_HUMAN
Tissue specificity: Isoform 2 is expressed in peripheral blood mononuclear cells and weakly found in urine and serum.

Evidence on tissue expression from TISSUES for IL6R Gene

  • Kidney(4.4)
  • Liver(3.1)
  • Nervous system(3)
  • Blood(2.7)
  • Bone marrow(2.4)
  • Lymph node(2.1)
  • Intestine(2)
  • Lung(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL6R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
Regions:
Abdomen:
  • liver
  • spleen
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with IL6R: view

Orthologs for IL6R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL6R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL6R 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia IL6R 33 34
  • 81.54 (n)
dog
(Canis familiaris)
Mammalia IL6R 33 34
  • 79.79 (n)
rat
(Rattus norvegicus)
Mammalia Il6r 33
  • 69.2 (n)
mouse
(Mus musculus)
Mammalia Il6ra 33 16 34
  • 68.37 (n)
oppossum
(Monodelphis domestica)
Mammalia IL6R 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia il6r 33
  • 45.02 (n)
zebrafish
(Danio rerio)
Actinopterygii il6r 33 34
  • 43.38 (n)
Species where no ortholog for IL6R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL6R Gene

ENSEMBL:
Gene Tree for IL6R (if available)
TreeFam:
Gene Tree for IL6R (if available)

Paralogs for IL6R Gene

Paralogs for IL6R Gene

Pseudogenes.org Pseudogenes for IL6R Gene

genes like me logo Genes that share paralogs with IL6R: view

Variants for IL6R Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IL6R Gene

IL6RA_HUMAN-P08887
Genetic variations in IL6R define the IL6 serum level quantitative trait locus [MIM:614752].
IL6RA_HUMAN-P08887
Genetic variations in IL6R determine soluble IL6R serum levels [MIM:614689].

Sequence variations from dbSNP and Humsavar for IL6R Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs2228145 association, Soluble interleukin-6 receptor, serum level of, quantitative trait locus, Interleukin 6, serum level of, quantitative trait locus 154,454,494(+) A/C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs1000001560 -- 154,452,623(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000216346 -- 154,425,079(+) A/G intron_variant
rs1000244757 -- 154,464,675(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000247425 -- 154,425,380(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IL6R Gene

Variant ID Type Subtype PubMed ID
nsv521887 CNV gain 19592680
nsv1119726 CNV deletion 24896259
esv3587606 CNV loss 21293372

Variation tolerance for IL6R Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.11; 80.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL6R Gene

Human Gene Mutation Database (HGMD)
IL6R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL6R

Disorders for IL6R Gene

MalaCards: The human disease database

(18) MalaCards diseases for IL6R Gene - From: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
soluble interleukin-6 receptor, serum level of, quantitative trait locus
  • soluble il6r, serum level of, quantitative trait locus
interleukin 6, serum level of, quantitative trait locus
  • il6, serum level of, quantitative trait locus
castleman disease
  • angiofollicular lymph hyperplasia
pycnodysostosis
  • pyknodysostosis; pknd
lung giant cell carcinoma
  • giant cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search IL6R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IL6R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL6R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL6R Gene

Publications for IL6R Gene

  1. Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women. (PMID: 18852330) Qi L … Hu FB (Diabetes 2009) 3 22 44 58
  2. Interleukin-6 (IL-6) and receptor (IL6-R) gene haplotypes associate with amniotic fluid protein concentrations in preterm birth. (PMID: 18276608) Velez DR … Menon R (Human molecular genetics 2008) 3 22 44 58
  3. IL-6 receptor, IL-8 receptor and TNF-alpha238 (G/A) polymorphisms are not associated with Behçet's disease in patients of German or Turkish origin. (PMID: 19026125) Storz K … Kötter I (Clinical and experimental rheumatology 2008) 3 22 44 58
  4. Molecular screening and association analyses of the interleukin 6 receptor gene variants with type 2 diabetes, diabetic nephropathy, and insulin sensitivity. (PMID: 15562008) Wang H … Elbein SC (The Journal of clinical endocrinology and metabolism 2005) 3 22 44 58
  5. Polymorphisms in the IL-6 receptor (IL-6R) gene: strong evidence that serum levels of soluble IL-6R are genetically influenced. (PMID: 15306846) Galicia JC … Yoshie H (Genes and immunity 2004) 3 22 44 58

Products for IL6R Gene

  • Addgene plasmids for IL6R

Sources for IL6R Gene