EYA4

Eyes absent homolog 4 (Drosophila)
Identifiers
Symbols	EYA4 ; CMD1J; DFNA10
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3025
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Eyes absent homolog 4 (Drosophila), also known as EYA4, is a human gene.

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and be important for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• O'Neill ME, Marietta J, Nishimura D; et al. (1996). "A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6". Hum. Mol. Genet. 5 (6): 853–6. PMID 8776603.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Borsani G, DeGrandi A, Ballabio A; et al. (1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum. Mol. Genet. 8 (1): 11–23. PMID 9887327.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schönberger J, Levy H, Grünig E; et al. (2000). "Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24". Circulation. 101 (15): 1812–8. PMID 10769282.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wayne S, Robertson NG, DeClau F; et al. (2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum. Mol. Genet. 10 (3): 195–200. PMID 11159937.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pfister M, Tóth T, Thiele H; et al. (2004). "A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10". Mol. Med. 8 (10): 607–11. PMID 12477971.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schönberger J, Wang L, Shin JT; et al. (2005). "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss". Nat. Genet. 37 (4): 418–22. doi:10.1038/ng1527. PMID 15735644.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beausoleil SA, Villén J, Gerber SA; et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Makishima T, Madeo AC, Brewer CC; et al. (2007). "Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain". Am. J. Med. Genet. A. 143 (14): 1592–8. doi:10.1002/ajmg.a.31793. PMID 17567890.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hildebrand MS, Coman D, Yang T; et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss". Am. J. Med. Genet. A. 143 (14): 1599–604. doi:10.1002/ajmg.a.31860. PMID 17568404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)