EYA4
entrez
2070
canonical
uniprot
O95677
canonical
ensembl
ENSG00000112319
resolver
ensp
ENSP00000347294
resolver
ensp
ENSP00000347434
resolver
ensp
ENSP00000388670
resolver
ensp
ENSP00000395916
resolver
ensp
ENSP00000404558
resolver
ensp
ENSP00000432770
resolver
ensp
ENSP00000433219
resolver
ensp
ENSP00000516341
resolver
ensp
ENSP00000553113
resolver
ensp
ENSP00000553114
resolver
ensp
ENSP00000553116
resolver
ensp
ENSP00000553119
resolver
ensp
ENSP00000553120
resolver
ensp
ENSP00000553122
resolver
ensp
ENSP00000553123
resolver
ensp
ENSP00000785624
resolver
ensp
ENSP00000785625
resolver
enst
ENST00000355167
resolver
enst
ENST00000525849
resolver
enst
ENST00000531901
resolver
enst
ENST00000883054
resolver
genesymbol
EYA4
resolver
hgnc
HGNC:3522
resolver
uniprot
A0A0S2Z3Q2
resolver
uniprot
A0A0S2Z3V9
resolver
uniprot
A0A8C8KDW0
resolver
uniprot
B4DIV6
resolver
uniprot
B4DRQ6
resolver
uniprot
B7Z7F7
resolver
uniprot
E9PLN6
resolver
uniprot
F2Z2Y1
resolver
uniprot
O95464
resolver
uniprot
O95679
resolver
uniprot
Q8IW39
resolver
uniprot
Q96CJ7
resolver
uniprot
Q9NTR7
resolver
uniprot_entry
A0A0S2Z3Q2_HUMAN
resolver
uniprot_entry
A0A0S2Z3V9_HUMAN
resolver
uniprot_entry
A0A8C8KDW0_HUMAN
resolver
uniprot_entry
B4DIV6_HUMAN
resolver
uniprot_entry
B4DRQ6_HUMAN
resolver
uniprot_entry
E9PLN6_HUMAN
resolver
uniprot_entry
EYA4_HUMAN
resolver
uniprot_entry
F2Z2Y1_HUMAN
resolver
uniprot_entry
Q96CJ7_HUMAN
resolver
uniprot_sec
B7Z7F7
resolver
uniprot_sec
O95464
resolver
uniprot_sec
O95679
resolver
uniprot_sec
Q8IW39
resolver
uniprot_sec
Q9NTR7
resolver
amino_acid_sequence
MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTFTGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTAYSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPGFSTPQPGQTPYSYQMPGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTADGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRKLAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSWLTNALKSLSIISTRSNCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVVIGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11159937, ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:25809937, ECO:0000269|PubMed:25961296}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. {ECO:0000269|PubMed:15735644}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.48
uniprot
proteins
function
FUNCTION: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). {ECO:0000250|UniProtKB:Q99502}.
uniprot
proteins
mass_dalton
69505
uniprot
proteins
protein_family
EYA family
uniprot
proteins
protein_family
HAD-like hydrolase superfamily
uniprot
proteins
pubmed
11159937
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15735644
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19606496
uniprot
proteins
pubmed
22938506
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25809937
uniprot
proteins
pubmed
25961296
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9887327
uniprot
proteins
sequence_length
639
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99502}. Nucleus {ECO:0000250|UniProtKB:Q99502}.
uniprot
proteins