EYA2 Gene Summary [Human]
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Details
| Type | Protein Coding |
| Official Symbol | EYA2 |
| Official Name | EYA transcriptional coactivator and phosphatase 2 [Source:HGNC Symbol;Acc:HGNC:3520] |
| Ensembl ID | ENSG00000064655 |
| Bio databases IDs | |
| Aliases | EYA transcriptional coactivator and phosphatase 2 |
| Synonyms | EAB1, EYA transcriptional coactivator and phosphatase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EYA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein-tyrosine-phoshatase
- Pst domain
- transcription activation domain
- enzyme
- protein binding
- magnesium ion binding
- phosphatase domain
- protein phosphatase
- phosphatase
- Eya domain
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
- eyes absent protein conserved domain
Pathways
Biological processes and signaling networks where the EYA2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- epithelial neoplasia
- abdominal cancer
- non-insulin-dependent diabetes mellitus
- nonalcoholic fatty liver disease
- metabolic syndrome X
- liver neoplasia
- allergy
- asthma
role in cell
- apoptosis
- expression in
- activation in
- proliferation
- phosphorylation in
- migration
- invasion by
- quantity
- modification
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EYA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of DNA repair
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- DNA repair
- chromatin remodeling
- striated muscle tissue development
- cell differentiation
- anatomical structure development
- extrinsic apoptotic signaling pathway in absence of ligand
- mesodermal cell fate specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- protein binding
- protein tyrosine phosphatase activity