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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]
IL6ST (Interleukin 6 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 Interleukin-11 Signaling Pathway and G-protein signaling Ras family GTPases in kinase cascades (scheme). 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.
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 | IDA | 2261637 |
GO:0004921 | interleukin-11 receptor activity | IEA | -- |
GO:0004923 | contributes_to leukemia inhibitory factor receptor activity | IDA | 8999038 |
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:0005900 | oncostatin-M receptor complex | IDA | 8999038 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | IL27-mediated signaling events | ||
2 | Interleukin-6 family signaling | ||
3 | RAF-independent MAPK1/3 activation | ||
4 | PEDF Induced Signaling |
IL-6 Pathway
.61
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|
5 | JAK-STAT signaling pathway |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
SC 144 | Pharma | Gp130 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
SC 144 | Gp130 inhibitor | 895158-95-9 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL6ST 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL6ST 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IL6ST 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Il6st 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Il6st 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL6ST 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL6ST 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IL6ST 30 |
|
||
GP130 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | IL6ST 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | il6st 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | il6st 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635407 | Pathogenic: Stüve-Wiedemann syndrome | 55,960,534(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
636252 | Uncertain Significance: GP130-deficient hyper-IgE syndrome | 55,952,253(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
636253 | Uncertain Significance: GP130-deficient hyper-IgE syndrome | 55,952,247(-) | T/G | INTRON_VARIANT | |
638017 | Pathogenic: Stüve-Wiedemann syndrome | 55,247,753(-) | A/G | ||
638565 | Pathogenic: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE | 55,956,082(-) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyper-ige recurrent infection syndrome 4, autosomal recessive |
|
|
stuve-wiedemann syndrome |
|
|
hyper ige recurrent infection syndrome 4 |
|
|
hyper ige syndrome |
|
|
kaposi sarcoma |
|
|