Eyes absent homolog 4

Protein-coding gene in the species Homo sapiens
EYA4
Identifiers
AliasesEYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDsOMIM: 603550; MGI: 1337104; HomoloGene: 3025; GeneCards: EYA4; OMA:EYA4 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for EYA4
Genomic location for EYA4
Band6q23.2Start133,240,514 bp[1]
End133,532,128 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for EYA4
Genomic location for EYA4
Band10 A3|10 10.44 cMStart23,102,963 bp[2]
End23,350,786 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • biceps brachii

  • Skeletal muscle tissue of biceps brachii

  • seminal vesicula

  • gastrocnemius muscle

  • Achilles tendon

  • Skeletal muscle tissue of rectus abdominis

  • mucosa of paranasal sinus

  • muscle of thigh

  • bronchial epithelial cell

  • right ventricle
Top expressed in
  • vestibular sensory epithelium

  • vestibular membrane of cochlear duct

  • olfactory epithelium

  • triceps brachii muscle

  • spermatid

  • sternocleidomastoid muscle

  • body of femur

  • temporal muscle

  • ankle

  • muscle of thigh
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
  • hearing
  • 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
SpeciesHumanMouse
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 MbChr 10: 23.1 – 23.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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) 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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112319 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".

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.
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