EYA4

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Eyes absent homolog 4 (Drosophila)
Identifiers
Symbols EYA4 ; CMD1J; DFNA10
External IDs OMIM603550 MGI1337104 HomoloGene3025 GeneCards: EYA4 Gene
EC number 3.1.3.48
RNA expression pattern
PBB GE EYA4 207327 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2070 14051
Ensembl ENSG00000112319 ENSMUSG00000010461
UniProt O95677 Q9Z191
RefSeq (mRNA) NM_004100 NM_010167
RefSeq (protein) NP_004091 NP_034297
Location (UCSC) Chr 6:
133.56 – 133.85 Mb
Chr 10:
23.1 – 23.35 Mb
PubMed search [1] [2]

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)". 

Further reading[edit]