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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2138
Gene name Gene Name - the full gene name approved by the HGNC.	EYA transcriptional coactivator and phosphatase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EYA1
Synonyms (NCBI Gene) Gene synonyms aliases	BOP, BOR, BOS1, OFC1, OTFCS
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, bra

Show/Hide all(50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909195	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs121909196	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909197	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909198	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121909199	C>T	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs121909200	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909201	A>C	Pathogenic	Missense variant, coding sequence variant
rs121909202	G>A,T	Pathogenic	Synonymous variant, intron variant, stop gained, coding sequence variant
rs139717960	G>A,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs200164773	G>A,T	Pathogenic	Stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant
rs373102227	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397517916	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397517917	C>A,T	Pathogenic	Splice acceptor variant
rs397517918	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397517919	->A	Pathogenic	Coding sequence variant, frameshift variant
rs529483320	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs606231355	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231356	GTTGTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231357	C>T	Pathogenic	Intron variant
rs727503042	C>G	Pathogenic	Splice donor variant
rs727504494	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs753245290	C>T	Likely-pathogenic	Splice donor variant
rs869025180	C>T	Pathogenic	Splice donor variant
rs876657689	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs876657690	CCGTACGGCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657691	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039674	GT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886042006	C>T	Pathogenic	Splice donor variant
rs1057520766	T>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1060499603	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691667	G>A	Pathogenic	Coding sequence variant, stop gained
rs1481254965	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554541834	GAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554542073	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554548840	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554550637	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554596461	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554615511	A>C	Pathogenic	Coding sequence variant, stop gained
rs1554615536	AGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563422304	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563422500	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1563423589	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563630117	C>T	Pathogenic	Splice donor variant
rs1563630128	C>G	Pathogenic	Coding sequence variant, missense variant
rs1563630587	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1563634200	C>T	Pathogenic	Splice acceptor variant
rs1585812463	AGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585817892	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585820240	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586244371	->ACAC	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000035	hsa-miR-562	Luciferase reporter assay	19789318
MIRT973690	hsa-miR-101	CLIP-seq
MIRT973691	hsa-miR-1243	CLIP-seq
MIRT973692	hsa-miR-128	CLIP-seq
MIRT973693	hsa-miR-2278	CLIP-seq
MIRT973694	hsa-miR-27a	CLIP-seq
MIRT973695	hsa-miR-27b	CLIP-seq
MIRT973696	hsa-miR-28-3p	CLIP-seq
MIRT973697	hsa-miR-4320	CLIP-seq
MIRT973698	hsa-miR-4420	CLIP-seq
MIRT973699	hsa-miR-5096	CLIP-seq
MIRT973700	hsa-miR-513a-5p	CLIP-seq
MIRT973701	hsa-miR-646	CLIP-seq
MIRT973702	hsa-miR-933	CLIP-seq
MIRT973703	hsa-miR-1244	CLIP-seq
MIRT973704	hsa-miR-1261	CLIP-seq
MIRT973705	hsa-miR-1266	CLIP-seq
MIRT973706	hsa-miR-3144-3p	CLIP-seq
MIRT973707	hsa-miR-320a	CLIP-seq
MIRT973708	hsa-miR-320b	CLIP-seq
MIRT973709	hsa-miR-320c	CLIP-seq
MIRT973710	hsa-miR-320d	CLIP-seq
MIRT973711	hsa-miR-323-3p	CLIP-seq
MIRT973712	hsa-miR-3667-3p	CLIP-seq
MIRT973713	hsa-miR-3691-3p	CLIP-seq
MIRT973714	hsa-miR-369-3p	CLIP-seq
MIRT973715	hsa-miR-374a	CLIP-seq
MIRT973716	hsa-miR-374b	CLIP-seq
MIRT973717	hsa-miR-374c	CLIP-seq
MIRT973718	hsa-miR-4261	CLIP-seq
MIRT973719	hsa-miR-4429	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT973721	hsa-miR-4518	CLIP-seq
MIRT973722	hsa-miR-4719	CLIP-seq
MIRT973723	hsa-miR-4760-3p	CLIP-seq
MIRT973724	hsa-miR-4777-3p	CLIP-seq
MIRT973725	hsa-miR-513b	CLIP-seq
MIRT973726	hsa-miR-542-3p	CLIP-seq
MIRT973727	hsa-miR-593	CLIP-seq
MIRT973728	hsa-miR-622	CLIP-seq
MIRT973729	hsa-miR-655	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq
MIRT973731	hsa-miR-875-5p	CLIP-seq
MIRT1988454	hsa-miR-3121-3p	CLIP-seq
MIRT1988455	hsa-miR-421	CLIP-seq
MIRT973718	hsa-miR-4261	CLIP-seq
MIRT1988456	hsa-miR-433	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT1988457	hsa-miR-4502	CLIP-seq
MIRT1988458	hsa-miR-4691-5p	CLIP-seq
MIRT1988459	hsa-miR-4709-5p	CLIP-seq
MIRT1988460	hsa-miR-4762-3p	CLIP-seq
MIRT1988461	hsa-miR-4774-5p	CLIP-seq
MIRT1988462	hsa-miR-505	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq
MIRT1988454	hsa-miR-3121-3p	CLIP-seq
MIRT2222900	hsa-miR-3647-3p	CLIP-seq
MIRT1988455	hsa-miR-421	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT1988457	hsa-miR-4502	CLIP-seq
MIRT1988459	hsa-miR-4709-5p	CLIP-seq
MIRT1988460	hsa-miR-4762-3p	CLIP-seq
MIRT2222901	hsa-miR-4789-5p	CLIP-seq
MIRT1988462	hsa-miR-505	CLIP-seq
MIRT973728	hsa-miR-622	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine 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	15141091, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19234442, 19497856
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	19497856
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	19234442
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007501	Process	Mesodermal cell fate specification	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020840
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9020840
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	19234442
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032993	Component	Protein-DNA complex	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045739	Process	Positive regulation of DNA repair	IBA
GO:0045739	Process	Positive regulation of DNA repair	IMP	19234442
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071600	Process	Otic vesicle morphogenesis	IEA
GO:0072513	Process	Positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0140793	Function	Histone H2AXY142 phosphatase activity	IDA	19234442
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
601653	3519	ENSG00000104313

Protein

UniProt ID

Q99502

Protein name

Protein phosphatase EYA1 (EC 3.1.3.16) (EC 3.1.3.48) (Eyes absent homolog 1)

Protein function

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficien

Family and domains

Tissue specificity

TISSUE SPECIFICITY: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Sequence

MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL

Sequence length

592

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Branchiootic syndrome	branchiootic syndrome 1	rs1131691667, rs121909202, rs606231356, rs121909196, rs397517917, rs1563630117, rs1816289467	N/A
Melnick-Fraser syndrome	branchiootorenal syndrome 1	rs139717960, rs121909201, rs121909195, rs1586244371, rs606231355, rs1563422304, rs121909196, rs121909202, rs1554615511, rs1816578250, rs606231357, rs121909200, rs529483320	N/A
melnick-fraser syndrome	Melnick-Fraser syndrome	rs1563634200, rs139717960, rs1481254965, rs121909195, rs1563422304, rs869025180, rs200164773, rs727503047, rs1554541834, rs1563423589, rs1816578250, rs121909196, rs1585717154, rs121909202, rs1554615511 View all (14 more)	N/A
Otofaciocervical Syndrome	otofaciocervical syndrome 1	rs869025180	N/A
Anterior segment anomalies	Anterior segment anomalies and cataract	rs121909197	N/A
branchiooculofacial syndrome	Branchiooculofacial syndrome	rs121909196	N/A
focal segmental glomerulosclerosis	Focal segmental glomerulosclerosis	rs397517920	N/A

Show/Hide Unknown Diseases (11)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cataract	Developmental cataract	N/A	N/A	ClinVar
Crohn Disease	Paneth cell defects in Crohn's disease	N/A	N/A	GWAS
Diabetes	Triglyceride levels in non-type 2 diabetes, Type 2 diabetes	N/A	N/A	GWAS
Endometriosis	Endometriosis	N/A	N/A	GWAS
Glaucoma	Glaucoma	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Hypospadias	Hypospadias	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Pelvic Organ Prolapse	Pelvic organ prolapse	N/A	N/A	GWAS
renal hypoplasia	Renal hypoplasia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Branchio Oto Renal Syndrome	Associate	15141091, 16813606, 17357085, 19215039, 20979191, 21280147, 23506628, 23840632, 30086703, 30221713, 33880118, 34160378, 35046468, 35545373, 35698919 View all (7 more)
Branchiootic syndrome	Associate	16813606, 30221713
Breast Neoplasms	Associate	27795300
Buschke Ollendorff syndrome	Associate	33880118
Cakut	Associate	24429398, 27657687, 37499630
Carcinoma Hepatocellular	Associate	31731191
Carcinoma Renal Cell	Associate	37156847
Cochlear Diseases	Associate	36833263
Deafness	Associate	30221713, 31992338, 35248088
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	15141091
Developmental Disabilities	Associate	20979191
Epilepsy	Associate	34588521
Essential Tremor	Associate	36183486
familial dilated cardiomyopathy	Associate	30221713
Fetal Diseases	Associate	36316881
Glioma	Associate	23727239
Glomerulosclerosis Focal Segmental	Associate	23506628
Growth Disorders	Associate	20979191
Hearing Loss	Associate	35114279, 35248088
Hemangioma Cavernous Central Nervous System	Associate	34588521
Hemorrhage	Associate	34588521
Nonsyndromic sensorineural hearing loss	Associate	30733538
Peptic Ulcer	Associate	34864618
Proteinuria	Associate	37612603
Renal Insufficiency Chronic	Associate	18522750
Severe Acute Respiratory Syndrome	Associate	30733538
Stomach Ulcer	Associate	34864618
Thyroid Cancer Papillary	Associate	34773364
Vesico Ureteral Reflux	Associate	22558067
Wilms Tumor	Associate	19789318

EYA1 (EYA transcriptional coactivator and phosphatase 1)