Jump to content

Eyes absent homolog 4

From Wikipedia, the free encyclopedia
EYA4
Identifiers
AliasesEYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDsOMIM: 603550; MGI: 1337104; HomoloGene: 3025; GeneCards: EYA4; OMA:EYA4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010167
NM_001347372

RefSeq (protein)

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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112319Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010461Ensembl, 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

[edit]