EYA3 - EYA transcriptional coactivator and phosphatase 3 Gene

Homo sapiens

Gene ID: 2140 | Gene type: protein coding

About EYA3

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,970,344-28,088,610 (from NCBI)

This gene has 8 transcripts (splice variants), 207 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 6.3), kidney (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

EYA3 Products(4)

mRNA	Protein	Name
NM_001282560.2	NP_001269489.1	eyes absent homolog 3 isoform b
NM_001282561.2	NP_001269490.1	eyes absent homolog 3 isoform c
NM_001282562.2	NP_001269491.1	eyes absent homolog 3 isoform d
NM_001990.4	NP_001981.2	eyes absent homolog 3 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H2AXY142 phosphatase activity	IDA IDA: Inferred from direct assay	19234442	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19234442	GOA
enables protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	19234442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in double-strand break repair	IMP IMP: Inferred from mutant phenotype	19234442	GOA
involved in positive regulation of DNA repair	IMP IMP: Inferred from mutant phenotype	19234442	GOA
involved in response to ionizing radiation	IDA IDA: Inferred from direct assay	19234442	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	19234442	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

eyes absent homolog 3

eyes absent 3

EYA3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EYA3	Q99504	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	EYA3	Q99504	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	EYA3	Q99504	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	EYA3	Q99504	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	EYA3	Q99504	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	EYA3	Q99504	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	EYA3	Q99504	MECP2	Homo sapiens	P51608	Validated Y2H	32814053
Intra	EYA3	Q99504	MECP2	Homo sapiens	P51608	Y2H Array	32814053
Intra	EYA3	Q99504	MECP2	Homo sapiens	P51608	Y2H Pooling	32814053
Intra	EYA3	Q99504	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
Intra	EYA3	Q99504	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
Intra	EYA3	Q99504	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
Intra	EYA3	Q99504	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	EYA3	Q99504	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	EYA3	Q99504	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	EYA3	Q99504	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	EYA3	Q99504	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Intra	EYA3	Q99504	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	EYA3	Q99504	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	EYA3	Q99504	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	EYA3	Q99504	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	EYA3	Q99504	PECAM1	Homo sapiens	P16284	Y2H Array	32814053
Intra	EYA3	Q99504	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
Intra	EYA3	Q99504	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
Intra	EYA3	Q99504	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	EYA3	Q99504	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	EYA3	Q99504	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	EYA3	Q99504	ATP1A3	Homo sapiens	P13637	Validated Y2H	32814053
Intra	EYA3	Q99504	ATP1A3	Homo sapiens	P13637	Y2H Pooling	32814053
Intra	EYA3	Q99504	ATP1A3	Homo sapiens	P13637	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ewing Sarcoma

Neuroepithelioma	Ewing'S Tumor
Primitive Neuroectodermal Tumor	Ewings Sarcoma
Ewing'S Sarcoma	Peripheral Neuroepithelioma
ES	Ewings Sarcoma-Primitive Neuroectodermal Tumor
Localized Peripheral Primitive Neuroectodermal Tumor	Peripheral Primitive Neuroectodermal Tumor
Ewing Tumor	Sarcoma, Ewing'S
Ewing Family Of Tumors	Extraosseous Ewing Tumor
Askin Tumor	Ewing'S Family Localized Tumor
Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Localized Ewing Sarcoma
Localized Ewing'S Sarcoma	Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Localized Ewing'S Tumor	Pnet Of Thoracopulmonary Region
Tumor Of The Ewing Family	Skeletal Ewing Sarcoma
Osseous Ewing Sarcoma	Ppnet
Peripheral Pnet	Extraskeletal Ewing Sarcoma
Eoe	Extraosseous Ewing Sarcoma
Extraskeletal Ewing Tumor	Esft
Ewing Sarcoma Family Of Tumors	Pne
Pnet	Pnet Of The Chest Wall
Sarcoma, Ewing	Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumor, Primitive	Disorder Of Eye
Askin'S Tumor	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor
Neuroepithelioma, Peripheral

Deafness, Autosomal Dominant 10

DFNA10	Autosomal Dominant Nonsyndromic Deafness 10
Autosomal Dominant Deafness 10	Deafness, Autosomal Dominant, 10
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
Deafness, Autosomal Dominant, Type 10

Sarcoma

Connective And Soft Tissue Neoplasm	Tumor Of Soft Tissue And Skeleton
Sarcomas	Sarcoma - Category

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome	Bor Syndrome
Branchiootorenal Dysplasia	Melnick-Fraser Syndrome
Branchiootorenal Spectrum Disorders	Branchio-Otorenal Dysplasia
Branchio Oto Renal Syndrome	Branchiootorenal/Branchiootic Syndrome
Bo Syndrome	Bor
Bos	Branchio-Otorenal Syndrome
Branchiootic Syndrome	Branchiootorenal Syndrome
Branchiootic Syndrome 1

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-135774	6-Hydroxybenzbromarone	Inhibitor	99.86%	Unkown
HY-RS04613	EYA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EYA3	MGD	MGI:109339
Rattus norvegicus	EYA3	RGD	RGD:1309932
Canis familiaris	EYA3	VGNC	VGNC:40538
Macaca mulatta	EYA3	VGNC	VGNC:72455
Felis catus	EYA3	VGNC	VGNC:62015
Bos taurus	EYA3	VGNC	VGNC:28672

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