EYA4

From Wikipedia, the free encyclopedia

Eyes absent homolog 4 (Drosophila)

Identifiers

EYA4; CMD1J; DFNA10

External IDs

OMIM: 603550 MGI: 1337104 HomoloGene: 3025

Gene ontology
Molecular Function:	• magnesium ion binding • protein tyrosine phosphatase activity • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • multicellular organismal development • visual perception • sensory perception of sound • metabolic process • anatomical structure morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004100 (mRNA)
NP_004091 (protein)

NM_010167 (mRNA)
NP_034297 (protein)

Location

Chr 6: 133.6 - 133.89 Mb

Chr 10: 22.8 - 22.86 Mb

Pubmed search

[1]

[2]

Eyes absent homolog 4 (Drosophila), also known as EYA4, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.