EYA4 (EYA transcriptional coactivator and phosphatase 4)

2009-09-01  

Identity

HGNC
EYA4
LOCATION
6q23.2
LOCUSID
2070
ALIAS
CMD1J,DFNA10
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
377777422023EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance.2
377777422023EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance.2
355783342022Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.2
364534282022Aberrant DNA methylation and expression of EYA4 in gastric cardia intestinal metaplasia.0
355783342022Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.2
364534282022Aberrant DNA methylation and expression of EYA4 in gastric cardia intestinal metaplasia.0
333012292021Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.5
336313862021Prognostic Role of EYA4 in Lower Grade Glioma with IDH1 Mutation and 1p19q Co-Deletion.4
337450592021Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.6
338591302021Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.3
333012292021Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.5
336313862021Prognostic Role of EYA4 in Lower Grade Glioma with IDH1 Mutation and 1p19q Co-Deletion.4
337450592021Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.6
338591302021Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.3
321074062020Prevalence and clinical features of hearing loss caused by EYA4 variants.15

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/css/meetings/haematological-explorer/