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Genetics Home Reference: your guide to understanding genetic conditions
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RPS6KA3

Reviewed January 2008

What is the official name of the RPS6KA3 gene?

The official name of this gene is “ribosomal protein S6 kinase, 90kDa, polypeptide 3.”

RPS6KA3 is the gene's official symbol. The RPS6KA3 gene is also known by other names, listed below.

What is the normal function of the RPS6KA3 gene?

The RPS6KA3 gene provides instructions for making a protein that is part of a family called ribosomal S6 kinases (RSKs). These proteins help regulate the activity of certain genes and are involved in signaling within cells. RSK proteins are thought to play a role in several important cellular processes including cell growth and division (proliferation), cell specialization (differentiation), and the self-destruction of cells (apoptosis).

Proteins in the RSK family, including the RPS6KA3 protein, are also included in a larger family called ribosomal proteins (RPS). These proteins are components of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. RSK proteins are among the ribosomal proteins that also have functions unrelated to protein production.

The protein made by the RPS6KA3 gene appears to play an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells.

How are changes in the RPS6KA3 gene related to health conditions?

Coffin-Lowry syndrome - caused by mutations in the RPS6KA3 gene

More than 125 mutations in the RPS6KA3 gene have been identified in people with Coffin-Lowry syndrome, a condition associated with intellectual disability and skeletal abnormalities. All of these mutations severely reduce or eliminate the activity of the RPS6KA3 protein. Some mutations insert or delete genetic material in the gene or change how the gene's instructions are used to build the protein. Other mutations change single protein building blocks (amino acids) in the RPS6KA3 protein.

Researchers do not fully understand how mutations in the RPS6KA3 gene lead to the signs and symptoms of Coffin-Lowry syndrome. A functional RPS6KA3 protein appears to be important for learning and memory, but its role in the skeleton is unknown.

other disorders - caused by mutations in the RPS6KA3 gene

RPS6KA3 mutations have been identified in some people who have intellectual disability, but do not have most of the other characteristic features of Coffin-Lowry syndrome. Because the RPS6KA3 gene is on the X chromosome, this condition is known as X-linked intellectual disability. Researchers believe that RPS6KA3 mutations are a rare cause of intellectual disability because only a few affected families have mutations in this gene.

Where is the RPS6KA3 gene located?

Cytogenetic Location: Xp22.2-p22.1

Molecular Location on the X chromosome: base pairs 20,149,910 to 20,267,070

The RPS6KA3 gene is located on the short (p) arm of the X chromosome between positions 22.2 and 22.1.

The RPS6KA3 gene is located on the short (p) arm of the X chromosome between positions 22.2 and 22.1.

More precisely, the RPS6KA3 gene is located from base pair 20,149,910 to base pair 20,267,070 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RPS6KA3?

You and your healthcare professional may find the following resources about RPS6KA3 helpful.

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

What other names do people use for the RPS6KA3 gene or gene products?

  • HU-2
  • HU-3
  • Insulin-stimulated protein kinase 1
  • ISPK-1
  • KS6A3_HUMAN
  • MAPKAPK1B
  • MAP kinase-activated protein kinase 1b
  • MRX19
  • p90(rsk)
  • Ribosomal S6 kinase 2
  • RSK2
  • RSK-2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RPS6KA3?

acids ; apoptosis ; cell ; chromosome ; differentiation ; disability ; gene ; insulin ; kinase ; mental retardation ; proliferation ; protein ; ribosomes ; serine ; syndrome ; threonine ; threonine kinase

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Hum Mutat. 2001 Feb;17(2):103-16. (http://www.ncbi.nlm.nih.gov/pubmed/11180593?dopt=Abstract)
  • Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Clin Genet. 2006 Aug;70(2):161-6. (http://www.ncbi.nlm.nih.gov/pubmed/16879200?dopt=Abstract)
  • Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet. 2006 Dec;70(6):509-15. (http://www.ncbi.nlm.nih.gov/pubmed/17100996?dopt=Abstract)
  • Guimiot F, Delezoide AL, Hanauer A, Simonneau M. Expression of the RSK2 gene during early human development. Gene Expr Patterns. 2004 Jan;4(1):111-4. (http://www.ncbi.nlm.nih.gov/pubmed/14678837?dopt=Abstract)
  • Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002 Oct;39(10):705-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12362025?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6197)
  • Raymond FL. X linked mental retardation: a clinical guide. J Med Genet. 2006 Mar;43(3):193-200. Epub 2005 Aug 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16118346?dopt=Abstract)
  • Zeniou M, Ding T, Trivier E, Hanauer A. Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Hum Mol Genet. 2002 Nov 1;11(23):2929-40. (http://www.ncbi.nlm.nih.gov/pubmed/12393804?dopt=Abstract)
  • Zeniou M, Gattoni R, Hanauer A, Stévenin J. Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. Nucleic Acids Res. 2004 Feb 18;32(3):1214-23. Print 2004. (http://www.ncbi.nlm.nih.gov/pubmed/14973203?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: January 27, 2015