Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2070
Gene name	EYA transcriptional coactivator and phosphatase 4
Gene symbol	EYA4
Synonyms (NCBI Gene)	CMD1JDFNA10
Chromosome	6
Chromosome location	6q23.2
Summary	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mat

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41286200	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs143936434	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs876657644	A>C	Likely-pathogenic	Splice acceptor variant
rs878853223	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1554260888	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1554261728	->G	Likely-pathogenic	Intron variant
rs1554261974	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562447782	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583345314	TTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583410898	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583411013	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002568	hsa-miR-124-3p	Microarray	15685193
MIRT005750	hsa-miR-203a-3p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT005754	hsa-miR-27b-3p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT005755	hsa-miR-224-5p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayNorthern blotqRT-PCRWestern blot	20827281
MIRT019463	hsa-miR-148b-3p	Microarray	17612493
MIRT021837	hsa-miR-132-3p	Microarray	17612493
MIRT022072	hsa-miR-128-3p	Microarray	17612493
MIRT002568	hsa-miR-124-3p	Microarray;Other	15685193
MIRT023358	hsa-miR-122-5p	Microarray	17612493
MIRT025147	hsa-miR-181a-5p	Microarray	17612493
MIRT973844	hsa-miR-1279	CLIP-seq
MIRT973845	hsa-miR-186	CLIP-seq
MIRT973846	hsa-miR-3133	CLIP-seq
MIRT973847	hsa-miR-3646	CLIP-seq
MIRT973848	hsa-miR-3922-5p	CLIP-seq
MIRT973849	hsa-miR-4744	CLIP-seq
MIRT973850	hsa-miR-513a-3p	CLIP-seq
MIRT973851	hsa-miR-129-5p	CLIP-seq
MIRT973852	hsa-miR-139-5p	CLIP-seq
MIRT973853	hsa-miR-4528	CLIP-seq
MIRT973854	hsa-miR-4797-5p	CLIP-seq
MIRT1988500	hsa-miR-4251	CLIP-seq
MIRT1988501	hsa-miR-4477b	CLIP-seq
MIRT1988502	hsa-miR-503	CLIP-seq
MIRT1988503	hsa-miR-3145-3p	CLIP-seq
MIRT2222954	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	19606496
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007601	Process	Visual perception	TAS	9887327
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9887327
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0045739	Process	Positive regulation of DNA repair	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA

MIM	HGNC	e!Ensembl
603550	3522	ENSG00000112319

O95677

Protein name

Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absent homolog 4)

Protein 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 respo

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00702	Hydrolase	369 → 615		Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. {ECO:0000269|PubMed:15735644}.

Sequence

MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSS
TSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTF
TGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTA
YSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPGFSTPQPGQTPYSYQM
PGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTA
DGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNP
SPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTH
LFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRK
LAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSWLTNALKSLSIISTRS
NCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVV
IGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL

Sequence length

639

Interactions

View interactions

	Reactome
			Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

1274

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 10	Pathogenic; Likely pathogenic	rs2128674939, rs2128665075, rs2128665071, rs2128711268, rs2128707546, rs2128707619, rs1305000119, rs2128781753, rs878853223, rs2534855814, rs1554275988, rs1562505728, rs1800334076, rs1794473050	RCV001822876 RCV001823261 RCV001823238 RCV001580605 RCV002279737 RCV001804164 RCV002251117 RCV000006618 RCV000225045 RCV003155548 RCV001807645 RCV000761235 RCV001004794 RCV001262651
Cardiovascular phenotype	Likely pathogenic	rs797045088, rs768710868	RCV002399708 RCV004516459
Dilated cardiomyopathy 1J	Likely pathogenic; Pathogenic	rs2128268726, rs1441151762, rs2128674984, rs1199874172, rs1562470903, rs1293420539, rs2128674457, rs2484393292, rs2534357852, rs922202185, rs797045088, rs776491390, rs876657644, rs2535335554, rs2535379771 View all (10 more)	RCV001377326 RCV001377839 RCV001376836 RCV003507394 RCV001990312 RCV001954631 RCV002011598 RCV001892170 RCV002569775 RCV002594496 RCV002745225 RCV001378781 RCV002861754 RCV003037458 RCV003019639 RCV003034488 RCV003049924 RCV005104335 RCV003506823 RCV003616032 RCV003616429 RCV003616547 RCV003617056 RCV003117362 RCV002529807 RCV000693904
EYA4-related disorder	Likely pathogenic; Pathogenic	rs797045088, rs1798601140, rs2535340015	RCV004528973 RCV004527945 RCV004531815
Hearing impairment	Likely pathogenic	rs2128782580	RCV001375169
Monogenic hearing loss	Pathogenic	rs1554275988	RCV006275871
Nonsyndromic genetic hearing loss	Pathogenic	rs2128658900	RCV001544526
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2128674984	RCV005912582
Rare genetic deafness	Likely pathogenic	rs797045088, rs876657644, rs1583345314	RCV004017475 RCV000223505 RCV000825583

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs12527852	RCV005914675
Congestive heart failure	Conflicting classifications of pathogenicity	rs747223436	RCV000853008
Dilated Cardiomyopathy, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs139659489, rs886061095, rs886061091, rs138964393, rs749389761	RCV000298109 RCV000330451 RCV000375970 RCV000291790 RCV000377129
Germ cell tumor of testis	Benign	rs2277083	RCV005921757
Hepatocellular carcinoma	Benign	rs2277083	RCV005921756
Hypertrophic cardiomyopathy	Benign; Likely benign	rs75133151	RCV000853009
Left ventricular noncompaction cardiomyopathy	Uncertain significance	rs377224718	RCV000853130
Malignant tumor of esophagus	Likely benign	rs12527852	RCV005914674
Myoepithelial tumor	Uncertain significance	rs776409783	RCV002463664
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs139659489, rs886061095, rs886061091, rs138964393, rs749389761	RCV000352958 RCV000277695 RCV000319047 RCV000385858 RCV000284961
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs869025402	RCV000208255
Thymoma	Likely benign	rs12527852	RCV005914676
Uterine carcinosarcoma	Likely benign	rs779060495	RCV005930417
Uterine corpus endometrial carcinoma	Likely benign	rs12527852	RCV005914677
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs747223436	RCV000853008

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma in Situ	Associate	21731750
Adenocarcinoma of Lung	Associate	28380439
Age Related Hearing Impairment 1	Associate	27764096
Arrhythmogenic Right Ventricular Dysplasia	Associate	28767663
Breast Neoplasms	Associate	35607307, 37777742
Carcinoma Hepatocellular	Inhibit	31385398
Carcinoma Non Small Cell Lung	Associate	24096489
Carcinoma Renal Cell	Associate	37156847
Cardiovascular Abnormalities	Associate	33301229
Chromosome Aberrations	Associate	35578334
Colitis Ulcerative	Associate	23867875
Colorectal Neoplasms	Associate	16670426, 21298349, 23867875, 23975090, 28351398, 28982739, 29436791, 32380793
Deafness	Associate	25963406, 34997062
Esophageal Neoplasms	Associate	36453428
Hearing Loss	Associate	22938506, 25242383, 25781927, 25963406, 30123251, 31101089, 32107406, 33301229, 39358765
Hearing Loss Noise Induced	Associate	26400775, 30947719
Hearing Loss Sensorineural	Associate	25961296, 25963406, 31101089
Heart Diseases	Associate	33301229
Inflammatory Bowel Diseases	Associate	23347191
Intestinal Diseases	Inhibit	36453428
Leukemia	Associate	27231175
Leukemia Myeloid Acute	Associate	27231175
Lung Neoplasms	Associate	24096489
Multiple Pterygium Syndrome Autosomal Dominant	Associate	31101089
Neoplasm Metastasis	Associate	37777742
Neoplasms	Associate	23347191, 23867875, 24096489, 25287138, 28351398, 28982739, 29436791, 34348967, 35607307
Neoplasms	Inhibit	37777742
Neoplastic Syndromes Hereditary	Associate	22938506, 25963406, 32107406
Nonsyndromic Deafness	Associate	23990876, 30123251, 35578334, 36788145
Nonsyndromic sensorineural hearing loss	Associate	25242383, 25781927, 25961296, 35578334, 39358765
Otitis Media	Associate	33693626
Smoke Inhalation Injury	Associate	35607307
Stomach Diseases	Associate	36453428
Tinnitus	Associate	26400775

EYA4 (EYA transcriptional coactivator and phosphatase 4)