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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]
EYA2 (EYA Transcriptional Coactivator And Phosphatase 2) is a Protein Coding gene. Diseases associated with EYA2 include Syndromic Microphthalmia and Malignant Peripheral Nerve Sheath Tumor. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000287 | magnesium ion binding | IDA | 19351884 |
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004725 | protein tyrosine phosphatase activity | IEA,IDA | 19351884 |
GO:0005515 | protein binding | IPI | 19497856 |
GO:0008134 | transcription factor binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006470 | protein dephosphorylation | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EYA2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EYA2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EYA2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EYA2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eya2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Eya2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EYA2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EYA2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EYA2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eya2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eya2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | eya 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | eya-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8681 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv162n111 | CNV | deletion | 26073780 |
esv2421702 | CNV | deletion | 20811451 |
esv2668903 | CNV | deletion | 23128226 |
esv2676598 | CNV | deletion | 23128226 |
esv2722466 | CNV | deletion | 23290073 |
esv2758798 | CNV | loss | 17122850 |
esv2763674 | CNV | loss | 21179565 |
esv33497 | CNV | loss | 17666407 |
esv3557135 | CNV | deletion | 23714750 |
esv3567994 | CNV | loss | 25503493 |
esv3567995 | CNV | loss | 25503493 |
esv3567996 | CNV | loss | 25503493 |
esv3645964 | CNV | loss | 21293372 |
esv3645965 | CNV | gain | 21293372 |
esv3645966 | CNV | loss | 21293372 |
nsv1061899 | CNV | loss | 25217958 |
nsv1072118 | CNV | deletion | 25765185 |
nsv1073063 | CNV | deletion | 25765185 |
nsv1116869 | CNV | deletion | 24896259 |
nsv1127840 | CNV | deletion | 24896259 |
nsv1136041 | CNV | deletion | 24896259 |
nsv1147471 | CNV | deletion | 26484159 |
nsv1160679 | CNV | deletion | 26073780 |
nsv178722 | CNV | deletion | 16902084 |
nsv179078 | CNV | deletion | 16902084 |
nsv442781 | CNV | loss | 18776908 |
nsv473811 | CNV | novel sequence insertion | 20440878 |
nsv510788 | CNV | deletion | 20534489 |
nsv828734 | CNV | loss | 20364138 |
nsv962581 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
syndromic microphthalmia |
|
|
malignant peripheral nerve sheath tumor |
|
|
fasciitis |
|
|
branchiootorenal syndrome |
|
|
branchiootic syndrome |
|
|