Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     branchiootorenal/branchiootic syndrome At least 160 mutations in the EYA1 gene have been identified in people with branchiootorenal (BOR) syndrome, a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. EYA1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same features as BOR syndrome except for kidney (renal) malformations. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). Many of the mutations that cause BOR/BO syndrome change the 3-dimensional structure of the EYA1 protein, which prevents it from interacting effectively with other proteins. Because these protein interactions are necessary for the activation of certain genes during embryonic development, the altered EYA1 protein impairs the normal development of many tissues before birth. The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, and (in BOR syndrome) the kidneys. In some cases, the same EYA1 gene mutation causes BOR syndrome in some members of a family and BO syndrome in others. This variability might result from changes in other, unidentified genes that affect how the EYA1 protein functions in the kidneys. other disorders Several mutations in the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding of the clear front surface of the eye (the cornea). These abnormalities occur without the characteristic features of BOR/BO syndrome. Researchers believe that the EYA1 gene mutations responsible for eye abnormalities have less severe effects on protein function than the mutations that underlie BOR/BO syndrome.

     The EYA1 gene provides instructions for making a protein that plays a role in regulating the activity of other genes. Based on this role, the EYA1 protein is called a transcription factor or transcription coactivator. The EYA1 protein interacts with several other proteins, including a group known as SIX proteins, to turn on (activate) and turn off (inactivate) genes that are important for normal development. Before birth, these protein interactions appear to be essential for the normal formation of many tissues. These include the second branchial arch, which gives rise to tissues in the front and side of the neck, and the eyes, ears, and kidneys. After birth, these interactions are important for normal organ function.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Pax-6
• Brachyury
• FOXC1
• Msx-1

Tissue specificity:

In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Developmental stage:

Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in cytoplasm of limb bud cell between the sixth and eighth week of development.

Cofactor:

Binds 1 Mg(2+) ion per subunit.

Molecular Function:

• Metal Ion Binding
• Protein Tyrosine Phosphatase Activity
• Rna Binding

Biological Processes:

• Anatomical Structure Morphogenesis
• Aorta Morphogenesis
• Branching Involved In Ureteric Bud Morphogenesis
• Cell Differentiation
• Cellular Protein Localization
• Cochlea Morphogenesis
• Double-Strand Break Repair
• Embryonic Skeletal System Morphogenesis
• Establishment Of Mitotic Spindle Orientation
• Establishment Or Maintenance Of Apical/Basal Cell Polarity
• Histone Dephosphorylation
• Lung Epithelial Cell Differentiation
• Mesodermal Cell Fate Specification
• Metanephros Development
• Middle Ear Morphogenesis
• Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
• Neuron Fate Specification
• Otic Vesicle Morphogenesis
• Outer Ear Morphogenesis
• Outflow Tract Morphogenesis
• Pattern Specification Process
• Pharyngeal System Development
• Positive Regulation Of Dna Repair
• Positive Regulation Of Epithelial Cell Proliferation
• Positive Regulation Of Notch Signaling Pathway
• Positive Regulation Of Secondary Heart Field Cardioblast Proliferation
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Protein Sumoylation
• Regulation Of Neuron Differentiation
• Response To Ionizing Radiation
• Semicircular Canal Morphogenesis
• Sensory Perception Of Sound
• Striated Muscle Tissue Development
• Transcription, Dna-Templated

*synonyms