Tbio EYA4 Eyes absent homolog 4

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• O95677
• B7Z7F7
• O95464
• O95679
• Q8IW39
• Q9NTR7

Gene Name

• EYA4

Ensembl ID

• ENST00000355167
• ENSP00000347294
• ENSG00000112319
• ENST00000355286
• ENSP00000347434
• ENST00000367895
• ENSP00000356870
• ENST00000431403
• ENSP00000404558
• ENST00000452339
• ENSP00000395916

Symbol

• CMD1J
• DFNA10

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
microRNA	0.89
PubMedID	0.71
small molecule perturbation	0.7
transcription factor	0.7
cell type or tissue	0.66

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 71.02   (req: < 5)

Gene RIFs: 50   (req: <= 3)

Antibodies: 203   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 71.02   (req: >= 5)

Gene RIFs: 50   (req: > 3)

Antibodies: 203   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0