EYA4

Chr 6q23.2

EYA transcriptional coactivator and phosphatase 4

MANE:: ENST00000355286.12

OMIM: 603550 ↗NCBI: 2070 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

EYA4 · O95677

v62025-08-01

Predicted Aligned Error matrix for EYA4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.7/ 100

Low

639 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)1%
Low(50–70)3%
Very low(< 50)56%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss 10
0.75
dilated cardiomyopathy 1J
0.65
hearing loss disorder
0.55
presbycusis
0.49
Sensorineural hearing impairment
0.49
deafness
0.47
Abnormality of the cardiovascular system
0.47
autosomal dominant nonsyndromic hearing loss
0.47
atrial fibrillation
0.47
Sensorineural deafness with dilated cardiomyopathy
0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein phosphatase EYA4

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)

Curated MONDO disease pages that list EYA4 among their top associated genes.

hearing loss disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with EYA4