InnateDB Protein
|
IDBP-79461.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
EYA2
|
Protein Name
|
eyes absent homolog 2 (Drosophila)
|
Synonyms
|
EAB1;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000349986
|
InnateDB Gene
|
IDBG-79457 (EYA2)
|
Protein Structure
|
|
Function |
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr- 142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. '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. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1. {ECO:0000269PubMed:19351884, ECO:0000269PubMed:21706047}.
|
Subcellular Localization |
Cytoplasm. Nucleus. Note=Retained in the cytoplasm via interaction with GNAZ and GNAI2. Interaction with SIX1, SIX2, SIX4 or SIX5 is required for translocation to the nucleus.
|
Disease Associations |
|
Tissue Specificity |
Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
|
Protein-Protein |
9
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
O00167
|
PhosphoSite |
PhosphoSite-O00167
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
2139
|
UniGene |
Hs.722416
|
RefSeq |
NP_742108
|
HUGO |
HGNC:3520
|
OMIM |
601654
|
CCDS |
CCDS54471
|
HPRD |
09041
|
IMGT |
|
EMBL |
AJ007992
AL022342
AL049540
AL121776
AL359434
BC000289
BC008803
BC013882
BT006682
U71207
U81601
Y10261
|
GenPept |
AAB42065
AAB51120
AAH00289
AAH08803
AAH13882
AAP35328
CAA07815
CAA71310
CAI23166
CAI40099
CAI42150
|
|
|