Covered on Genetics Home Reference: nonsyndromic hearing lossfamilial dilated cardiomyopathyFrom NCBI Gene: Dilated cardiomyopathy 1JDeafness, autosomal dominant 10From UniProt: Deafness, autosomal dominant, 10 (DFNA10): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:601316] Cardiomyopathy, dilated 1J (CMD1J): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. [MIM:605362]

     From NCBI Gene: 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] From UniProt: 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.

The following transcription factors affect gene expression:

• Nkx2-2
• GATA-1
• FOXC1
• c-Myb
• NCX/Ncx

Tissue specificity:

Highly expressed in heart and skeletal muscle.

Cofactor:

Binds 1 Mg(2+) ion per subunit.

Molecular Function:

• Metal Ion Binding
• Protein Tyrosine Phosphatase Activity

Biological Processes:

• Anatomical Structure Morphogenesis
• Cell Differentiation
• Dna Repair
• Histone Dephosphorylation
• Multicellular Organism Development
• Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
• Positive Regulation Of Dna Repair
• Regulation Of Transcription, Dna-Templated
• Sensory Perception Of Sound
• Transcription, Dna-Templated
• Visual Perception
• Covalent Chromatin Modification