The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a prot... See more...

Aliases for IL6ST Gene

Aliases for IL6ST Gene

  • Interleukin 6 Cytokine Family Signal Transducer 2 3
  • Interleukin-6 Receptor Subunit Beta 2 3 4
  • Membrane Glycoprotein 130 2 3 4
  • IL-6RB 2 3 4
  • Oncostatin-M Receptor Subunit Alpha 3 4
  • Interleukin 6 Signal Transducer 2 5
  • Interleukin-6 Signal Transducer 3 4
  • Gp130, Oncostatin M Receptor 2 3
  • IL-6 Receptor Subunit Beta 3 4
  • IL-6R Subunit Beta 3 4
  • CD130 Antigen 3 4
  • SGP130 2 3
  • CD130 2 3
  • GP130 2 3
  • Gp130 Of The Rheumatoid Arthritis Antigenic Peptide-Bearing Soluble Form 3
  • Interleukin 6 Signal Transducer (Gp130, Oncostatin M Receptor) 2
  • Interleukin Receptor Beta Chain 3
  • Membrane Glycoprotein Gp130 3
  • IL-6R-Beta 4
  • CDW130 3
  • CDw130 4
  • HIES4 3
  • IL6ST 5
  • Gp130 4

External Ids for IL6ST Gene

Previous GeneCards Identifiers for IL6ST Gene

  • GC05M055398
  • GC05M056665
  • GC05M055207
  • GC05M055252
  • GC05M055272
  • GC05M052204
  • GC05M055230

Summaries for IL6ST Gene

Entrez Gene Summary for IL6ST Gene

  • The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]

GeneCards Summary for IL6ST Gene

IL6ST (Interleukin 6 Cytokine Family Signal Transducer) is a Protein Coding gene. Diseases associated with IL6ST include Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive and Stuve-Wiedemann Syndrome. Among its related pathways are IL-6 signaling pathway and Interleukin-6 family signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and interleukin-6 receptor binding. An important paralog of this gene is CSF3R.

UniProtKB/Swiss-Prot Summary for IL6ST Gene

  • Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activate the intracellular JAK-MAPK and JAK-STAT3 signaling pathways (PubMed:2261637, PubMed:19915009, PubMed:23294003). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003, PubMed:25731159). In parallel, the IL6 signaling pathway induces the expression of two cytokine receptor signaling inhibitors, SOCS1 and SOCS3, which inhibit JAK and terminate the activity of the IL6 signaling pathway as a negative feedback loop (By similarity). Also activates the yes-associated protein 1 (YAP) and NOTCH pathways to control inflammation-induced epithelial regeneration, independently of STAT3 (By similarity). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity).
  • [Isoform 2]: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response (PubMed:11121117, PubMed:21990364, PubMed:30279168). Also blocks IL11 cluster signaling through IL11R (PubMed:30279168).

Gene Wiki entry for IL6ST Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL6ST Gene

Genomics for IL6ST Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IL6ST Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL6ST on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL6ST

Top Transcription factor binding sites by QIAGEN in the IL6ST gene promoter:
  • aMEF-2
  • E4BP4
  • FOXF2
  • GATA-1
  • LCR-F1
  • MEF-2
  • STAT1
  • STAT3

Genomic Locations for IL6ST Gene

Latest Assembly
chr5:55,935,095-55,995,022
(GRCh38/hg38)
Size:
59,928 bases
Orientation:
Minus strand

Previous Assembly
chr5:55,230,923-55,290,791
(GRCh37/hg19 by Entrez Gene)
Size:
59,869 bases
Orientation:
Minus strand

chr5:55,230,923-55,290,821
(GRCh37/hg19 by Ensembl)
Size:
59,899 bases
Orientation:
Minus strand

Genomic View for IL6ST Gene

Genes around IL6ST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL6ST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL6ST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL6ST Gene

Proteins for IL6ST Gene

  • Protein details for IL6ST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40189-IL6RB_HUMAN
    Recommended name:
    Interleukin-6 receptor subunit beta
    Protein Accession:
    P40189
    Secondary Accessions:
    • A0N0L4
    • Q5FC04
    • Q9UQ41

    Protein attributes for IL6ST Gene

    Size:
    918 amino acids
    Molecular mass:
    103537 Da
    Quaternary structure:
    • Component of a hexamer of two molecules each of IL6, IL6R and IL6ST; associates with the complex IL6:IL6R but does not interact with IL6 (PubMed:12829785, PubMed:2261637). Forms heterodimers composed of LIFR and IL6ST (type I OSM receptor) which are activated by LIF and OSM (PubMed:8999038). Also forms heterodimers composed of OSMR and IL6ST (type II receptor) which are activated by OSM but not by LIF (PubMed:8999038). Interacts with HCK (PubMed:9406996). Interacts with INPP5D/SHIP1 (By similarity). Interacts with SRC and YES (PubMed:25731159).
    • (Microbial infection) The homodimer binds two molecules of herpes virus 8/HHV-8 protein vIL-6.

    Three dimensional structures from OCA and Proteopedia for IL6ST Gene

    Alternative splice isoforms for IL6ST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL6ST Gene

Post-translational modifications for IL6ST Gene

  • Phosphorylation of Ser-782 down-regulates cell surface expression.
  • Heavily N-glycosylated (PubMed:11098061, PubMed:16335952, PubMed:19159218, PubMed:19139490, PubMed:11251120). Glycosylation is required for protein stability and localization in plasma membrane but not for ligand binding (PubMed:19915009).
  • Glycosylation at Asn43, Asn83, Asn131, Asn157, Asn227, Asn379, Asn383, Asn390, Asn553, Asn564, Asn687, and Asn818
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IL6RB_HUMAN (649)

Antibodies for research

No data available for DME Specific Peptides for IL6ST Gene

Domains & Families for IL6ST Gene

Gene Families for IL6ST Gene

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

Protein Domains for IL6ST Gene

InterPro:
Blocks:
  • Long hematopoietin receptor, gp130 family 2
  • Fibronectin type III repeat signature
  • Ig-like C2-type

Suggested Antigen Peptide Sequences for IL6ST Gene

GenScript: Design optimal peptide antigens:
  • Oncostatin-M receptor subunit alpha (IL6RB_HUMAN)
  • Gp130 (Q13514_HUMAN)
  • Interleukin 6 signal transducer (Gp130, oncostatin M receptor) (Q17RA0_HUMAN)
  • IL6ST nirs variant 5 (Q5FC03_HUMAN)
  • IL6ST nirs variant 2 (Q5FC06_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40189

UniProtKB/Swiss-Prot:

IL6RB_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
genes like me logo Genes that share domains with IL6ST: view

Function for IL6ST Gene

Molecular function for IL6ST Gene

UniProtKB/Swiss-Prot Function:
Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activate the intracellular JAK-MAPK and JAK-STAT3 signaling pathways (PubMed:2261637, PubMed:19915009, PubMed:23294003). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003, PubMed:25731159). In parallel, the IL6 signaling pathway induces the expression of two cytokine receptor signaling inhibitors, SOCS1 and SOCS3, which inhibit JAK and terminate the activity of the IL6 signaling pathway as a negative feedback loop (By similarity). Also activates the yes-associated protein 1 (YAP) and NOTCH pathways to control inflammation-induced epithelial regeneration, independently of STAT3 (By similarity). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response (PubMed:11121117, PubMed:21990364, PubMed:30279168). Also blocks IL11 cluster signaling through IL11R (PubMed:30279168).
UniProtKB/Swiss-Prot Induction:
LIF and OSM activate the type I OSM receptor while only OSM can activate the type II OSM receptor.
GENATLAS Biochemistry:
interleukin 6,signal transducer (GP130),needed for IL6R activity and signal transduction of the IL-6 related cytokines,mediated by JAK kinases,ubiquitously expressed,with a membrane bound and an alternatively spliced secreted form

Phenotypes From GWAS Catalog for IL6ST Gene

Gene Ontology (GO) - Molecular Function for IL6ST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0004897 ciliary neurotrophic factor receptor activity IDA 12643274
GO:0004915 contributes_to interleukin-6 receptor activity IBA,IDA 2261637
GO:0004921 interleukin-11 receptor activity IEA --
GO:0004923 contributes_to leukemia inhibitory factor receptor activity IDA 8999038
genes like me logo Genes that share ontologies with IL6ST: view
genes like me logo Genes that share phenotypes with IL6ST: view

Human Phenotype Ontology for IL6ST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL6ST Gene

MGI Knock Outs for IL6ST:

miRNA for IL6ST Gene

miRTarBase miRNAs that target IL6ST

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL6ST

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL6ST Gene

Localization for IL6ST Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL6ST Gene

[Isoform 1]: 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 IL6ST gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
peroxisome 2
nucleus 2
cytosol 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL6ST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA --
GO:0005886 plasma membrane TAS --
GO:0005896 interleukin-6 receptor complex IDA 2261637
GO:0005900 oncostatin-M receptor complex IDA 8999038
genes like me logo Genes that share ontologies with IL6ST: view

Pathways & Interactions for IL6ST Gene

genes like me logo Genes that share pathways with IL6ST: view

Pathways by source for IL6ST Gene

9 GeneGo (Thomson Reuters) pathways for IL6ST Gene
  • Cell adhesion PLAU signaling
  • Cytokine production by Th17 cells in CF
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Development CNTF receptor signaling
  • Immune response Oncostatin M signaling via MAPK in human cells
6 Qiagen pathways for IL6ST Gene
  • CNTF Signaling
  • ERK5 Signaling
  • IL-6 Pathway
  • NFAT and Cardiac Hypertrophy
  • OSM Pathway
1 Cell Signaling Technology pathway for IL6ST Gene

SIGNOR curated interactions for IL6ST Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IL6ST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002675 positive regulation of acute inflammatory response IC 8999038
GO:0002821 positive regulation of adaptive immune response IC 14764690
GO:0005977 glycogen metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0008284 positive regulation of cell proliferation IGI 8999038
genes like me logo Genes that share ontologies with IL6ST: view

Drugs & Compounds for IL6ST Gene

(17) Drugs for IL6ST Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SC 144 Pharma Gp130 inhibitor 0

(14) Additional Compounds for IL6ST Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for IL6ST Gene

Compound Action Cas Number
SC 144 Gp130 inhibitor 895158-95-9
genes like me logo Genes that share compounds with IL6ST: view

Transcripts for IL6ST Gene

mRNA/cDNA for IL6ST Gene

8 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL6ST

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for IL6ST Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3: -

Relevant External Links for IL6ST Gene

GeneLoc Exon Structure for
IL6ST

Expression for IL6ST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL6ST Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IL6ST Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (34.5), Serum (14.9), and Amniocyte (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IL6ST Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL6ST

SOURCE GeneReport for Unigene cluster for IL6ST Gene:

Hs.532082

mRNA Expression by UniProt/SwissProt for IL6ST Gene:

P40189-IL6RB_HUMAN
Tissue specificity: Found in all the tissues and cell lines examined (PubMed:2261637). Expression not restricted to IL6 responsive cells (PubMed:2261637).

Evidence on tissue expression from TISSUES for IL6ST Gene

  • Liver(4.7)
  • Blood(4.5)
  • Bone marrow(4.5)
  • Nervous system(4.1)
  • Heart(3.2)
  • Spleen(3.1)
  • Intestine(3.1)
  • Stomach(3)
  • Muscle(2.9)
  • Kidney(2.9)
  • Lung(2.9)
  • Pancreas(2.8)
  • Lymph node(2.7)
  • Skin(2.4)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with IL6ST: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IL6ST Gene

Orthologs for IL6ST Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL6ST Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IL6ST 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IL6ST 29 30
  • 92.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IL6ST 29 30
  • 90.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Il6st 29
  • 80.19 (n)
Mouse
(Mus musculus)
Mammalia Il6st 29 16 30
  • 78.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IL6ST 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IL6ST 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IL6ST 29
  • 67.51 (n)
GP130 30
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IL6ST 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia il6st 29
  • 56.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii il6st 29 30
  • 50.55 (n)
OneToOne
Species where no ortholog for IL6ST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 IL6ST Gene

ENSEMBL:
Gene Tree for IL6ST (if available)
TreeFam:
Gene Tree for IL6ST (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL6ST: view image
Alliance of Genome Resources:
Additional Orthologs for IL6ST

Paralogs for IL6ST Gene

(2) SIMAP similar genes for IL6ST Gene using alignment to 8 proteins:

  • IL6RB_HUMAN
  • D6RH03_HUMAN
  • Q17RA0_HUMAN
  • Q5FC02_HUMAN
  • Q5FC03_HUMAN
  • Q5FC05_HUMAN
  • Q5FC06_HUMAN
  • Q5FC07_HUMAN

Pseudogenes.org Pseudogenes for IL6ST Gene

genes like me logo Genes that share paralogs with IL6ST: view

Variants for IL6ST Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL6ST Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1003134 Uncertain Significance: not provided 55,941,137(-) A/G
NM_002184.4(IL6ST):c.2702T>C (p.Met901Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1009240 Uncertain Significance: not provided 55,951,562(-) G/A
NM_002184.4(IL6ST):c.1742C>T (p.Ser581Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
1013255 Likely Pathogenic: not provided 55,957,286(-) ATGGTCC/A
NM_002184.4(IL6ST):c.974-1_978del
SPLICE_ACCEPTOR_VARIANT,INTRON
1014677 Uncertain Significance: not provided 55,954,984(-) G/A
NM_002184.4(IL6ST):c.1276C>T (p.Pro426Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
1020418 Uncertain Significance: not provided 55,956,105(-) T/G
NM_002184.4(IL6ST):c.1187A>C (p.Tyr396Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IL6ST Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IL6ST Gene

Variant ID Type Subtype PubMed ID
esv3306206 CNV mobile element insertion 20981092
esv3309217 CNV mobile element insertion 20981092
esv3337710 CNV insertion 20981092
esv3395799 CNV insertion 20981092
nsv598182 CNV loss 21841781
nsv830307 CNV gain 17160897
nsv968176 CNV duplication 23825009

Variation tolerance for IL6ST Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.43; 90.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL6ST Gene

Human Gene Mutation Database (HGMD)
IL6ST
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL6ST
Leiden Open Variation Database (LOVD)
IL6ST

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL6ST Gene

Disorders for IL6ST Gene

MalaCards: The human disease database

(24) MalaCards diseases for IL6ST Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hyper-ige recurrent infection syndrome 4, autosomal recessive
  • hies4
stuve-wiedemann syndrome
  • stws
hyper ige recurrent infection syndrome 4
kaposi sarcoma
  • kaposi sarcoma, susceptibility to
hyper ige syndrome
  • hyper immunoglobulin e syndrome
- elite association - COSMIC cancer census association via MalaCards
Search IL6ST in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL6RB_HUMAN
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive (HIES4) [MIM:618523]: An immunologic disorder characterized by recurrent infections, mainly affecting the respiratory tract, skin and eye, and skeletal abnormalities including craniosynostosis and scoliosis. Immunologic workup shows increased serum IgE, intermittent eosinophilia, impaired development of certain B- and T-cell populations, as well as impaired acute-phase response. Disease onset is in early childhood. {ECO:0000269 PubMed:28747427, ECO:0000269 PubMed:30309848}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IL6ST

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IL6ST: view

No data available for Genatlas for IL6ST Gene

Publications for IL6ST Gene

  1. Molecular cloning and expression of an IL-6 signal transducer, gp130. (PMID: 2261637) Hibi M … Kishimoto T (Cell 1990) 2 3 4 22
  2. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. (PMID: 28747427) Schwerd T … Uhlig HH (The Journal of experimental medicine 2017) 3 4 72
  3. N-linked glycosylation is essential for the stability but not the signaling function of the interleukin-6 signal transducer glycoprotein 130. (PMID: 19915009) Waetzig GH … Seegert D (The Journal of biological chemistry 2010) 3 4 22
  4. Convergent mechanisms for recognition of divergent cytokines by the shared signaling receptor gp130. (PMID: 14527405) Boulanger MJ … Garcia KC (Molecular cell 2003) 3 4 22
  5. Soluble gp130 is the natural inhibitor of soluble interleukin-6 receptor transsignaling responses. (PMID: 11121117) Jostock T … Rose-John S (European journal of biochemistry 2001) 3 4 22

Products for IL6ST Gene

Sources for IL6ST Gene