EYA2 (EYA transcriptional coactivator and phosphatase 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2139
Gene name Gene Name - the full gene name approved by the HGNC.
EYA transcriptional coactivator and phosphatase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EYA2
Synonyms (NCBI Gene) Gene synonyms aliases
EAB1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT054651 hsa-miR-30a-5p Luciferase reporter assay, qRT-PCR, Western blot 24508260
MIRT054651 hsa-miR-30a-5p Luciferase reporter assay 26837415
MIRT973732 hsa-miR-1343 CLIP-seq
MIRT973733 hsa-miR-3127-3p CLIP-seq
MIRT973734 hsa-miR-3667-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 19351884
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 19497856, 20211142, 21516116, 23435380, 27880917, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601654 3520 ENSG00000064655
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00167
Protein name Protein phosphatase EYA2 (EC 3.1.3.48) (Eyes absent homolog 2)
Protein function Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) an
PDB 3GEB , 3HB0 , 3HB1 , 4EGC , 5ZMA , 7F8G , 7F8H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00702 Hydrolase 268 → 514 Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart. {ECO:0000269|PubMed:9195991}.
Sequence 
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPR
QPSTAMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYG
SSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGS
SYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDR
PHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTT
SVRIGLMMEEMIFNLADTHLFFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAP
GANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEAL
TDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGK
ESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALRHALELEYL
Sequence length 538
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26837415, 31285279
Astrocytoma Associate 28901379
Breast Neoplasms Associate 26837415
Carcinoma Renal Cell Associate 37156847
Diabetes Mellitus Type 2 Associate 33407418
Esophageal Squamous Cell Carcinoma Associate 31048097
Lung Neoplasms Associate 31285279
Medulloblastoma Associate 37486991
Neoplasm Metastasis Associate 21706047, 33015798
Neoplasm Metastasis Stimulate 31317026