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

    Gene ID: 3572, updated on 25-Nov-2021

    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
    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; CDW130; 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
    NEW
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    Genomic context

    See IL6ST in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (55935095..55994963, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55230923..55290791, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein H1 pseudogene 3 Neighboring gene interleukin 31 receptor A Neighboring gene Sharpr-MPRA regulatory region 5314 Neighboring gene IL6ST divergent transcript Neighboring gene uncharacterized LOC105378976 Neighboring gene ankyrin repeat domain 55

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    GeneReviews: Not available
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    GeneReviews: Not available
    Hyper-ige recurrent infection syndrome 4, autosomal recessive
    MedGen: C5193141 OMIM: 618523 GeneReviews: Not available
    Compare labs
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp564F053

    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 cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 scaffold protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 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 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 tyrosine phosphorylation of STAT protein IMP
    Inferred from Mutant Phenotype
    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
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    part_of interleukin-6 receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA 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 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001190981.2NP_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/Swiss-Prot
      P40189
      UniProtKB/TrEMBL
      A0A0A0N0L2
      Related
      ENSP00000370694.3, ENST00000381294.7
      Conserved Domains (4) summary
      smart00060
      Location:458538
      FN3; Fibronectin type 3 domain
      cd00063
      Location:222321
      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:26112
      Lep_receptor_Ig; Ig-like C2-type domain
      cl21522
      Location:121215
      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 ...
    2. NM_001364275.2NP_001351204.1  interleukin-6 receptor subunit beta isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596, HQ628629
      Conserved Domains (4) summary
      smart00060
      Location:485565
      FN3; Fibronectin type 3 domain
      cd00063
      Location:222321
      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:26112
      Lep_receptor_Ig; Ig-like C2-type domain
      cl21522
      Location:121215
      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 ...
    3. NM_001364276.2NP_001351205.1  interleukin-6 receptor subunit beta isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596
      Conserved Domains (4) summary
      smart00060
      Location:449529
      FN3; Fibronectin type 3 domain
      cd00063
      Location:152251
      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:2653
      Lep_receptor_Ig; Ig-like C2-type domain
      cl21522
      Location:54145
      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 ...
    4. NM_001364277.2NP_001351206.1  interleukin-6 receptor subunit beta isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596
      Conserved Domains (1) summary
      smart00060
      Location:230310
      FN3; Fibronectin type 3 domain
    5. NM_001364278.2NP_001351207.1  interleukin-6 receptor subunit beta isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596
      Conserved Domains (1) summary
      smart00060
      Location:218298
      FN3; Fibronectin type 3 domain
    6. NM_001364279.2NP_001351208.1  interleukin-6 receptor subunit beta isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596
      Conserved Domains (1) summary
      smart00060
      Location:187267
      FN3; Fibronectin type 3 domain
    7. NM_002184.4NP_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
      P40189
      UniProtKB/TrEMBL
      Q17RA0
      Related
      ENSP00000370698.2, ENST00000381298.7
      Conserved Domains (4) summary
      smart00060
      Location:519599
      FN3; Fibronectin type 3 domain
      cd00063
      Location:222321
      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:26112
      Lep_receptor_Ig; Ig-like C2-type domain
      cl21522
      Location:121215
      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 ...
    8. NM_175767.3NP_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/Swiss-Prot
      P40189
      Related
      ENSP00000370687.4, ENST00000381287.8
      Conserved Domains (3) summary
      cd00063
      Location:222321
      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:26112
      Lep_receptor_Ig; Ig-like C2-type domain
      cl21522
      Location:121215
      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

    1. 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
    2. NR_157112.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008914, AC016596
      Related
      ENST00000651614.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      55935095..55994963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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