EYA4

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EYA4
Identifiers
Aliases EYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDs MGI: 1337104 HomoloGene: 3025 GeneCards: EYA4
RNA expression pattern
PBB GE EYA4 207327 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010167
NM_001347372

RefSeq (protein)

NP_001287941
NP_001287942
NP_004091
NP_742101
NP_742103

NP_001334301
NP_034297

Location (UCSC) Chr 6: 133.24 – 133.53 Mb Chr 10: 23.1 – 23.35 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)". 

Further reading[edit]