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Genetics Home Reference: your guide to understanding genetic conditions
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EYA4

Reviewed November 2006

What is the official name of the EYA4 gene?

The official name of this gene is “eyes absent homolog 4 (Drosophila).”

EYA4 is the gene's official symbol. The EYA4 gene is also known by other names, listed below.

What is the normal function of the EYA4 gene?

The EYA4 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA4 protein is called a transcription factor or transcription coactivator. The EYA4 gene is active in the heart, inner ear, muscles, and other tissues throughout the body.

Two regions of the EYA4 protein, called the Eya domain and the variable domain, are important for interactions with other proteins. These protein interactions help to control gene activities that appear to be important for heart function, development of the inner ear, and maintenance of normal hearing.

Does the EYA4 gene share characteristics with other genes?

The EYA4 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).

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 EYA4 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the EYA4 gene

A few EYA4 gene mutations have been reported in individuals with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA10. These mutations create a premature stop signal in the instructions for making the EYA4 protein. As a result, no protein is produced, or an abnormally small protein is made. The abnormal EYA4 protein lacks some or all of the Eya domain, which impairs interactions with other proteins. Impaired protein interactions probably disrupt the control of gene activities that are important for the development of the inner ear and maintenance of normal hearing.

other disorders - caused by mutations in the EYA4 gene

A mutation in the EYA4 gene has also been identified in individuals with hearing loss and a heart condition called dilated cardiomyopathy, in which the heart loses much of its pumping power. Moderate to severe hearing loss usually occurs by late adolescence, and the heart condition develops during adulthood. The mutation deletes a large segment of the EYA4 gene. As a result, the EYA4 protein is missing the Eya domain and part of the variable domain, which reduces interactions with other proteins. Decreased protein interactions probably disrupt the control of gene activities that are important for normal heart function and maintenance of normal hearing.

Where is the EYA4 gene located?

Cytogenetic Location: 6q23

Molecular Location on chromosome 6: base pairs 133,562,494 to 133,853,257

The EYA4 gene is located on the long (q) arm of chromosome 6 at position 23.

The EYA4 gene is located on the long (q) arm of chromosome 6 at position 23.

More precisely, the EYA4 gene is located from base pair 133,562,494 to base pair 133,853,257 on chromosome 6.

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 EYA4?

You and your healthcare professional may find the following resources about EYA4 helpful.

  • Gene Reviews - Clinical summary

    • Gene Review: Dilated Cardiomyopathy (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dcm-ov)
    • Gene Review: Hereditary Hearing Loss and Deafness (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for EYA4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2070%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=(EYA4%5BTIAB%5D)%20OR%20((deafness,%20autosomal%20dominant%2010%5BTIAB%5D)%20OR%20(DFNA10%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)

  • OMIM - Genetic disorder catalog

    • CARDIOMYOPATHY, DILATED, 1J (http://omim.org/entry/605362)
    • EYES ABSENT 4 (http://omim.org/entry/603550)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_EYA4.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2070)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2070)
    • Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/db/genelist.htm)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3522)
    • The Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)

What other names do people use for the EYA4 gene or gene products?

  • CMD1J
  • DFNA10
  • EYA4_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 EYA4?

autosomal ; autosomal dominant ; cardiomyopathy ; dilated ; domain ; gene ; mutation ; protein ; transcription ; transcription factor

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

References

  • De Leenheer EM, Huygen PL, Wayne S, Verstreken M, Declau F, Van Camp G, Van de Heyning PH, Smith RJ, Cremers CW. DFNA10/EYA4--the clinical picture. Adv Otorhinolaryngol. 2002;61:73-8. (http://www.ncbi.nlm.nih.gov/pubmed/12408066?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2070)
  • Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
  • OMIM: EYES ABSENT 4 (http://omim.org/entry/603550)
  • Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S. A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med. 2002 Oct;8(10):607-11. (http://www.ncbi.nlm.nih.gov/pubmed/12477971?dopt=Abstract)
  • Schönberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005 Apr;37(4):418-22. Epub 2005 Feb 27. (http://www.ncbi.nlm.nih.gov/pubmed/15735644?dopt=Abstract)
  • Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjärg L, Morton CC, Ryan AF, Van Camp G, Smith RJ. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet. 2001 Feb 1;10(3):195-200. (http://www.ncbi.nlm.nih.gov/pubmed/11159937?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: November 2006
Published: May 13, 2013