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

    Gene ID: 3572, updated on 23-Apr-2017
    Official Symbol
    IL6STprovided by HGNC
    Official Full Name
    interleukin 6 signal transducerprovided by HGNC
    Primary source
    HGNC:HGNC:6021
    See related
    Ensembl:ENSG00000134352 MIM:600694; Vega:OTTHUMG00000097043
    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; CDW130; IL-6RB
    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]
    Orthologs
    Location:
    5q11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (55935095..55994993, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55230923..55290821, 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 uncharacterized LOC441072 Neighboring gene uncharacterized LOC105378976 Neighboring gene ankyrin repeat domain 55

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp564F053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ciliary neurotrophic factor receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary neurotrophic factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-11 binding IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-11 receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to interleukin-6 binding IPI
    Inferred from Physical Interaction
    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 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ciliary neurotrophic factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-11-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-27-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interleukin-6-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    leukemia inhibitory factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    oncostatin-M-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of acute inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of adaptive immune response IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cardiac muscle hypertrophy TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of vascular endothelial growth factor production TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    response to cytokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ciliary neurotrophic factor receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    interleukin-6 receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    oncostatin-M receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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
    membrane glycoprotein 130
    membrane glycoprotein gp130
    oncostatin-M receptor subunit alpha

    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_001190981.1NP_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, OTTHUMP00000260242, ENST00000381294.7, OTTHUMT00000443710
      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_002184.3NP_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, OTTHUMP00000122545, ENST00000381298.6, OTTHUMT00000214146
      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 ...
    3. NM_175767.2NP_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_120480.1 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      55935095..55994993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009442.1XP_016864931.1  interleukin-6 receptor subunit beta isoform X2

    2. XM_017009441.1XP_016864930.1  interleukin-6 receptor subunit beta isoform X1

    RNA

    1. XR_001742062.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      55234877..55294748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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