EYA4

EYA4
Identifiers
Aliases	EYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDs	OMIM: 603550 MGI: 1337104 HomoloGene: 3025 GeneCards: EYA4
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	133,532,128 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	23,350,786 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• GO:0001948 protein binding; • phosphoprotein phosphatase activity; • hydrolase activity; • metal ion binding; • protein tyrosine phosphatase activity;
Cellular component	• cytoplasm; • cell nucleus;
Biological process	• multicellular organism development; • anatomical structure morphogenesis; • peptidyl-tyrosine dephosphorylation; • regulation of transcription, DNA-templated; • sensory perception of sound; • DNA repair; • transcription, DNA-templated; • visual perception; • cellular response to DNA damage stimulus; • positive regulation of DNA repair; • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; • histone dephosphorylation; • cell differentiation; • chromatin organization; • anatomical structure development;
	Sources:Amigo / QuickGO
Orthologs
	2070
	14051
	ENSG00000112319
	ENSMUSG00000010461
	O95677
	Q9Z191
NM_001301012; NM_001301013; NM_004100; NM_172103; NM_172104;
	NM_172105; NM_001370458; NM_001370459
	NM_010167; NM_001347372
NP_001287941; NP_001287942; NP_004091; NP_742101; NP_742103;
	NP_001357387; NP_001357388
	NP_001334301; NP_034297
	Wikidata
View/Edit Human	View/Edit Mouse

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.[5][6][7]

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.[7]

References

GRCh38: Ensembl release 89: ENSG00000112319 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000010461 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.
Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.
"Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".

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): 853–856. doi:10.1093/hmg/5.6.853. PMID 8776603.
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): 1812–1818. doi:10.1161/01.cir.101.15.1812. PMID 10769282.
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): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. 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): 607–611. doi:10.1007/BF03402171. PMC 2039947. PMID 12477971.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–811. Bibcode:2003Natur.425..805M. 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. 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): 418–422. doi:10.1038/ng1527. PMID 15735644. S2CID 20760254.
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. PMC 1356129. 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): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
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): 1592–1598. doi:10.1002/ajmg.a.31793. PMID 17567890. S2CID 20167944.
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): 1599–1604. doi:10.1002/ajmg.a.31860. PMID 17568404. S2CID 40602803.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112319 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010461 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9887327-5] Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.

[pmid11159937-6] Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.

[entrez-7] "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".

EYA4

References

Further reading