Eyes absent homolog 4

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.^[5][6][7]

EYA4
Identifiers
Aliases	EYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4
External IDs	OMIM: 603550; MGI: 1337104; HomoloGene: 3025; GeneCards: EYA4; OMA:EYA4 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q23.2 Start 133,240,514 bp[1] End 133,532,128 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 A3|10 10.44 cM Start 23,102,963 bp[2] End 23,350,786 bp[2]
RNA expression pattern Bgee Human Mouse (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 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_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 Mb Chr 10: 23.1 – 23.35 Mb PubMed search [3] [4]
Wikidata
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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]