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EYA3 - EYA transcriptional coactivator and phosphatase 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2140

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-135774	6-Hydroxybenzbromarone	Inhibitor	99.96%	Unkown
HY-RS04613	EYA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	EYA3	NCBI