IL6ST interleukin 6 cytokine family signal transducer [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL6STprovided by HGNC
Official Full Name: interleukin 6 cytokine family signal transducerprovided by HGNC
Primary source: HGNC:HGNC:6021
See related: Ensembl:ENSG00000134352 MIM:600694; AllianceGenome:HGNC:6021
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD130; GP130; HIES4; IMD94; STWS2; CDW130; HIES4A; HIES4B; IL-6RB; sGP130
Summary: 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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression: Ubiquitous expression in placenta (RPKM 88.6), fat (RPKM 53.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55935095..55994963, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (56763505..56823387, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (55230923..55290791, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ironing Out the Mechanism of gp130 Signaling.
Title: Ironing Out the Mechanism of gp130 Signaling.
Association of serum IL-30 and soluble GP130 with the risk of psoriasis vulgaris.
Title: Association of serum IL-30 and soluble GP130 with the risk of psoriasis vulgaris.
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.
Title: An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect.
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Title: The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Structural insights into IL-11-mediated signalling and human IL6ST variant-associated immunodeficiency.
Title: Structural insights into IL-11-mediated signalling and human IL6ST variant-associated immunodeficiency.
Associations between serum estradiol and IL-6/sIL-6R/sgp130 complex in female patients with major depressive disorder.
Title: Associations between serum estradiol and IL-6/sIL-6R/sgp130 complex in female patients with major depressive disorder.
Mononuclear cells from patients with rhupus are influenced by TNF in their production of gp130/sIL-6Rb and APRIL.
Title: Mononuclear cells from patients with rhupus are influenced by TNF in their production of gp130/sIL-6Rb and APRIL.
Biophysical insight into protein-protein interactions in the Interleukin-11/Interleukin-11Ralpha/glycoprotein 130 signaling complex.
Title: Biophysical insight into protein-protein interactions in the Interleukin-11/Interleukin-11Rα/glycoprotein 130 signaling complex.
Association of Polymorphisms of IL-6 Pathway Genes (IL6, IL6R and IL6ST) with COVID-19 Severity in an Amazonian Population.
Title: Association of Polymorphisms of IL-6 Pathway Genes (IL6, IL6R and IL6ST) with COVID-19 Severity in an Amazonian Population.
Decreased Serum Levels of Soluble Oncostatin M Receptor (sOSMR) and Glycoprotein 130 (sgp130) in Patients with Coronary Artery Disease.
Title: Decreased Serum Levels of Soluble Oncostatin M Receptor (sOSMR) and Glycoprotein 130 (sgp130) in Patients with Coronary Artery Disease.

Submit: New GeneRIF Correction See all GeneRIFs (203)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyper-IgE recurrent infection syndrome 4, autosomal recessive MedGen: C5193141 OMIM: 618523 GeneReviews: Not available	not available
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant MedGen: C5676920 OMIM: 619752 GeneReviews: Not available	not available
Immunodeficiency 94 with autoinflammation and dysmorphic facies MedGen: C5676918 OMIM: 619750 GeneReviews: Not available	not available
Stuve-Wiedemann syndrome 2 MedGen: C5676919 OMIM: 619751 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of interleukin 6 signal transducer (IL6ST; gp130, oncostatin M receptor; CD130) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef downregulates the cell surface expression of interleukin 6 signal transducer (IL6ST, CD130)	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of interleukin 6 signal transducer gene (IL6ST; GP130) in mammary epithelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15643 (e-PCR)
- UniSTS:61441

D5S2597 (e-PCR)
- UniSTS:63500

G24196 (e-PCR)
- UniSTS:81178

GDB:353575 (e-PCR)
- UniSTS:156705

GDB:353576 (e-PCR)
- UniSTS:156706

SHGC-58193 (e-PCR)
- UniSTS:78730

RH15655 (e-PCR)
- UniSTS:56459

GDB:592062 (e-PCR)
- UniSTS:157899

IL6ST_1708 (e-PCR)
- UniSTS:280786

RH17700 (e-PCR)
- UniSTS:4833

D17S58 (e-PCR)
- UniSTS:153826

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ciliary neurotrophic factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ciliary neurotrophic factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-11 binding	IEA Inferred from Electronic Annotation more info
enables interleukin-11 receptor activity	IEA Inferred from Electronic Annotation more info
enables interleukin-27 receptor activity	IC Inferred by Curator more info	PubMed
contributes_to interleukin-6 binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to interleukin-6 binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to interleukin-6 receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to interleukin-6 receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to interleukin-6 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to leukemia inhibitory factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to oncostatin-M receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cell surface receptor signaling pathway via STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ciliary neurotrophic factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in interleukin-11-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-27-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-6-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interleukin-6-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in interleukin-6-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in intestinal epithelial cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in leukemia inhibitory factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oncostatin-M-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of acute inflammatory response	IC Inferred by Curator more info	PubMed
involved_in positive regulation of adaptive immune response	IC Inferred by Curator more info	PubMed
involved_in positive regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle hypertrophy	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of platelet aggregation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	TAS Traceable Author Statement more info	PubMed
involved_in response to cytokine	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of ciliary neurotrophic factor receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of interleukin-6 receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
part_of oncostatin-M receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-6 receptor subunit beta

Names: CD130 antigen; IL-6 receptor subunit beta; IL-6R subunit beta; gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form; gp130, oncostatin M receptor; interleukin receptor beta chain; interleukin-6 signal transducer; membrane glycoprotein 130; membrane glycoprotein gp130; oncostatin-M receptor subunit alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001190981.2 → NP_001177910.1 interleukin-6 receptor subunit beta isoform 3 precursor

See identical proteins and their annotated locations for NP_001177910.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.

Source sequence(s)

AB102802, AC008914, AC016596, BQ013034, DA863210, DA877322

Consensus CDS

CCDS54856.1

UniProtKB/TrEMBL

A0A0A0N0L2, Q17RA0

Related

ENSP00000370694.3, ENST00000381294.8

Conserved Domains (4) summary

smart00060
Location:458 → 538

FN3; Fibronectin type 3 domain

cd00063
Location:222 → 321

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:26 → 112

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:121 → 215

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001364275.2 → NP_001351204.1 interleukin-6 receptor subunit beta isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC008914, AC016596, HQ628629

Consensus CDS

CCDS93711.1

UniProtKB/TrEMBL

A0A0A0N0L5, Q17RA0

Related

ENSP00000513859.1, ENST00000698646.1

Conserved Domains (4) summary

smart00060
Location:485 → 565

FN3; Fibronectin type 3 domain

cd00063
Location:222 → 321

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:26 → 112

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:121 → 215

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001364276.2 → NP_001351205.1 interleukin-6 receptor subunit beta isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AC008914, AC016596

Consensus CDS

CCDS93712.1

UniProtKB/TrEMBL

A0A8V8TMJ9, Q17RA0

Related

ENSP00000513857.1, ENST00000698644.1

Conserved Domains (4) summary

smart00060
Location:449 → 529

FN3; Fibronectin type 3 domain

cd00063
Location:152 → 251

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:26 → 53

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:54 → 145

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_001364277.2 → NP_001351206.1 interleukin-6 receptor subunit beta isoform 6

Status: REVIEWED

Source sequence(s)

AC008914, AC016596

Conserved Domains (1) summary

smart00060
Location:230 → 310

FN3; Fibronectin type 3 domain
NM_001364278.2 → NP_001351207.1 interleukin-6 receptor subunit beta isoform 7

Status: REVIEWED

Source sequence(s)

AC008914, AC016596

Consensus CDS

CCDS93710.1

UniProtKB/TrEMBL

A0A8V8TNI4

Related

ENSP00000513851.1, ENST00000698638.1

Conserved Domains (1) summary

smart00060
Location:218 → 298

FN3; Fibronectin type 3 domain
NM_001364279.2 → NP_001351208.1 interleukin-6 receptor subunit beta isoform 8

Status: REVIEWED

Source sequence(s)

AC008914, AC016596

Conserved Domains (1) summary

smart00060
Location:187 → 267

FN3; Fibronectin type 3 domain
NM_002184.4 → NP_002175.2 interleukin-6 receptor subunit beta isoform 1 precursor

See identical proteins and their annotated locations for NP_002175.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC008914, AC016596, BC117402, BQ013034, DA863210, M57230

Consensus CDS

CCDS3971.1

UniProtKB/Swiss-Prot

A0N0L4, P40189, Q5FC04, Q9UQ41

UniProtKB/TrEMBL

Q17RA0

Related

ENSP00000370698.2, ENST00000381298.7

Conserved Domains (4) summary

smart00060
Location:519 → 599

FN3; Fibronectin type 3 domain

cd00063
Location:222 → 321

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:26 → 112

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:121 → 215

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
NM_175767.3 → NP_786943.1 interleukin-6 receptor subunit beta isoform 2 precursor

See identical proteins and their annotated locations for NP_786943.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, which results in a frameshift in the 3' coding region and a premature termination codon, compared to variant 1. The resulting isoform (2, also known as gp130-RAPS) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

AB015706, AB102802, AC008914, AC016596, BQ013034, DA863210, DA877322

Consensus CDS

CCDS47209.1

UniProtKB/TrEMBL

D6RH03

Related

ENSP00000435399.1, ENST00000522633.2

Conserved Domains (3) summary

cd00063
Location:222 → 321

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:26 → 112

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:121 → 215

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RNA

NR_120480.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an additional internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008914, AC016596, BC143842, BQ013034, DA863210, M57230

Related

ENST00000698642.1
NR_157112.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008914, AC016596

Related

ENST00000651614.1