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IL6ST

IL6ST

The information on this page was automatically extracted from online scientific databases.

What is the official name of the IL6ST gene?

The official name of this gene is “interleukin 6 signal transducer.”

IL6ST is the gene's official symbol. The IL6ST gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the IL6ST gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (IL6RB_HUMAN)This link leads to a site outside Genetics Home Reference.:

Signal-transducing molecule. 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 activates Janus kinases (PubMed:2261637). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 (PubMed:2261637). 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.

How are changes in the IL6ST gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the IL6ST gene.
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the IL6ST gene and its association with health conditions.
OMIM
Number
Title

Where is the IL6ST gene located?

Cytogenetic Location: 5q11.2

Molecular Location on chromosome 5: base pairs 55,935,095 to 55,994,993

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The IL6ST gene is located on the long (q) arm of chromosome 5 at position 11.2.

The IL6ST gene is located on the long (q) arm of chromosome 5 at position 11.2.

More precisely, the IL6ST gene is located from base pair 55,935,095 to base pair 55,994,993 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about IL6ST?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the IL6ST gene or gene products?

  • CD130
  • CDW130
  • GP130
  • IL-6RB

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding IL6ST?

apoptosis ; astrocytes ; chromosome ; cytokine ; differentiation ; embryonic ; gene ; immune response ; leukemia ; lineage ; metabolism ; molecule ; motor ; myocyte ; osteoblast ; phosphorylation ; protein ; pseudogene ; receptor ; sarcoma ; transcript ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 8, 2016