EYA4

EYA4
Identifiers
Aliases	EYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDs	MGI: 1337104 HomoloGene: 3025 GeneCards: EYA4
Gene location (Human) Chr. Chromosome 6 (human) Band 6q23.2 Start 133,240,598 bp End 133,532,120 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band n/a Start 23,102,963 bp End 23,350,786 bp
RNA expression pattern 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 • histone dephosphorylation • covalent chromatin modification • cell differentiation 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_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 6: 23.1 – 23.35 Mb
PubMed search

2070

14051

ENSG00000112319

ENSMUSG00000010461

O95677

Q9Z191

NM_172105

NM_010167
NM_001347372

NP_001287941
NP_001287942
NP_004091
NP_742101
NP_742103

NP_001334301
NP_034297

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) 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.

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