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Ask your administrator if you think this is wrong. ======= EYA4 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: EYA4 * **<color #00a2e8>Official Name</color>**: EYA transcriptional coactivator and phosphatase 4 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2070|2070]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95677|O95677]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EYA4&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EYA4|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603550|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and 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 non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. * **<color #00a2e8>UniProt Summary</color>**: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). {ECO:0000250|UniProtKB:Q99502}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Hydrolase| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |histone dephosphorylation| |negative regulation of extrinsic apoptotic signaling pathway in absence of ligand| |negative regulation of signal transduction in absence of ligand| |regulation of extrinsic apoptotic signaling pathway in absence of ligand| |positive regulation of DNA repair| |positive regulation of response to DNA damage stimulus| |protein tyrosine phosphatase activity| |negative regulation of extrinsic apoptotic signaling pathway| |peptidyl-tyrosine dephosphorylation| |regulation of DNA repair| |sensory perception of sound| |regulation of extrinsic apoptotic signaling pathway| |sensory perception of mechanical stimulus| |positive regulation of DNA metabolic process| |protein dephosphorylation| |regulation of response to DNA damage stimulus| |visual perception| |sensory perception of light stimulus| |negative regulation of apoptotic signaling pathway| |dephosphorylation| |regulation of DNA metabolic process| |histone modification| |covalent chromatin modification| |regulation of apoptotic signaling pathway| |DNA repair| |chromatin organization| |regulation of cellular response to stress| |DNA metabolic process| |cellular response to DNA damage stimulus| |negative regulation of apoptotic process| |negative regulation of programmed cell death| |sensory perception| |negative regulation of cell death| |chromosome organization| |negative regulation of signal transduction| |negative regulation of cell communication| |negative regulation of signaling| |nervous system process| |regulation of response to stress| |regulation of apoptotic process| |regulation of programmed cell death| |negative regulation of response to stimulus| |regulation of cell death| |cellular response to stress| |positive regulation of nucleobase-containing compound metabolic process| |system process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/25| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/15| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/14| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 15436 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.3 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='EYA4 Expression in NALM6 Cells: 2.3'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1