EYA4 (EYA transcriptional coactivator and phosphatase 4)

2009-09-01  

Identity

HGNC
LOCATION
6q23.2
LOCUSID
ALIAS
CMD1J,DFNA10
FUSION GENES

Other Information

Locus ID:

NCBI: 2070
MIM: 603550
HGNC: 3522
Ensembl: ENSG00000112319

Variants:

dbSNP: 2070
ClinVar: 2070
TCGA: ENSG00000112319
COSMIC: EYA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112319ENST00000355167O95677
ENSG00000112319ENST00000355286O95677
ENSG00000112319ENST00000430974E7ESD5
ENSG00000112319ENST00000431403O95677
ENSG00000112319ENST00000431403A0A0S2Z3V9
ENSG00000112319ENST00000452339O95677
ENSG00000112319ENST00000452339A0A0S2Z3Q2
ENSG00000112319ENST00000525849E9PLN6
ENSG00000112319ENST00000531901F2Z2Y1

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
157356442005Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210612592011Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci.46
182193932008Eya4-deficient mice are a model for heritable otitis media.37
199019652010Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis.36
124779712002A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.23
277640962016A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.19
175678902007Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.15
175684042007A novel splice site mutation in EYA4 causes DFNA10 hearing loss.14
240964892014EYA4 is inactivated biallelically at a high frequency in sporadic lung cancer and is associated with familial lung cancer risk.13

Citation

Dessen P

EYA4 (EYA transcriptional coactivator and phosphatase 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51134/eya4