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Genetics Home Reference: your guide to understanding genetic conditions
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SIX5

Reviewed January 2008

What is the official name of the SIX5 gene?

The official name of this gene is “SIX homeobox 5.”

SIX5 is the gene's official symbol. The SIX5 gene is also known by other names, listed below.

What is the normal function of the SIX5 gene?

The SIX5 gene is part of a group of similar genes known as the SIX gene family. Genes in this family provide instructions for making proteins that bind to DNA and control the activity of other genes. Based on this role, SIX proteins are called transcription factors.

The SIX5 protein interacts with several other proteins, including the EYA1 protein, to regulate the activity of genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues, including the second branchial arch (a structure that gives rise to tissues in the front and side of the neck), the ears, and the kidneys. Researchers have also found the SIX5 protein in the adult brain, heart, eyes, and muscles used for movement (skeletal muscles).

Does the SIX5 gene share characteristics with other genes?

The SIX5 gene belongs to a family of genes called homeobox (homeoboxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SIX5 gene related to health conditions?

branchiootorenal syndrome - caused by mutations in the SIX5 gene

At least four mutations in the SIX5 gene have been found in people with branchiootorenal (BOR) syndrome. Each of these mutations changes a single protein building block (amino acid) in the SIX5 protein, which prevents SIX5 from interacting with the EYA1 protein effectively. Because this protein interaction is necessary for the activation of certain genes during embryonic development, the altered SIX5 protein disrupts the normal development of many tissues before birth. The major signs and symptoms of branchiootorenal syndrome result from abnormal development of the second branchial arch, ears, and kidneys.

Where is the SIX5 gene located?

Cytogenetic Location: 19q13.32

Molecular Location on chromosome 19: base pairs 46,268,042 to 46,272,496

The SIX5 gene is located on the long (q) arm of chromosome 19 at position 13.32.

The SIX5 gene is located on the long (q) arm of chromosome 19 at position 13.32.

More precisely, the SIX5 gene is located from base pair 46,268,042 to base pair 46,272,496 on chromosome 19.

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 SIX5?

You and your healthcare professional may find the following resources about SIX5 helpful.

  • Educational resources - Information pages
    Developmental Biology (sixth edition, 2000): Transcription Factors (http://www.ncbi.nlm.nih.gov/books/NBK10023/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1380/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SIX5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=147912%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SIX5%5BTIAB%5D)%20OR%20((BOR2%5BTIAB%5D)%20OR%20(DMAHP%5BTIAB%5D)%20OR%20(DM%20locus-associated%20homeodomain%20protein%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203240%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/600963)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/147912)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=147912)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10891)

What other names do people use for the SIX5 gene or gene products?

  • BOR2
  • DMAHP
  • DM locus-associated homeodomain protein
  • dystrophia myotonica-associated homeodomain protein
  • Homeobox protein SIX5
  • sine oculis homeobox homolog 5
  • SIX5_HUMAN

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 SIX5?

amino acid ; branchial arch ; DNA ; embryonic ; gene ; homeobox ; homeodomain ; locus ; protein ; syndrome ; transcription

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

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/147912)
  • Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22. (http://www.ncbi.nlm.nih.gov/pubmed/17357085?dopt=Abstract)
  • Kirby RJ, Hamilton GM, Finnegan DJ, Johnson KJ, Jarman AP. Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development. Curr Biol. 2001 Jul 10;11(13):1044-9. (http://www.ncbi.nlm.nih.gov/pubmed/11470409?dopt=Abstract)
  • Pham YC, Man Nt, Holt I, Sewry CA, Pall G, Johnson K, Morris GE. Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies. J Cell Biochem. 2005 Aug 1;95(5):990-1001. (http://www.ncbi.nlm.nih.gov/pubmed/15962300?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: May 20, 2013