Eyes absent homolog 4

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) Band 6q23.2 Start 133,240,514 bp End 133,532,128 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 A3|10 10.44 cM Start 23,102,963 bp End 23,350,786 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in biceps brachii seminal vesicula gastrocnemius muscle Achilles tendon bronchial epithelial cell right ventricle deltoid muscle tibialis anterior muscle quadriceps femoris muscle vastus lateralis muscle Top expressed in olfactory epithelium triceps brachii muscle spermatid sternocleidomastoid muscle body of femur temporal muscle ankle internal carotid artery seminiferous tubule external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding phosphoprotein phosphatase activity hydrolase activity metal ion binding protein tyrosine phosphatase activity Cellular component cytoplasm 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 cell differentiation chromatin organization anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2070 14051 Ensembl ENSG00000112319 ENSMUSG00000010461 UniProt O95677 Q9Z191 RefSeq (mRNA) NM_001301012 NM_001301013 NM_004100 NM_172103 NM_172104 NM_172105 NM_001370458 NM_001370459 NM_010167 NM_001347372 RefSeq (protein) NP_001287941 NP_001287942 NP_004091 NP_742101 NP_742103 NP_001357387 NP_001357388 NP_001334301 NP_034297 Location (UCSC) Chr 6: 133.24 – 133.53 Mb Chr 10: 23.1 – 23.35 Mb PubMed search
Wikidata
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Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

This gene encodes a member of the eyes absent (EYA) subfamily 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): 853–856. 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. Bibcode:2002PNAS...9916899M. 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.