EYA2 - EYA transcriptional coactivator and phosphatase 2 Gene

Homo sapiens

Also known as EAB1

Gene ID: 2139 | Gene type: protein coding

About EYA2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,894,843-47,188,844 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues and 3 paralogues. Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues.

Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

EYA2 Products(2)

mRNA	Protein	Name
NM_005244.5	NP_005235.3	eyes absent homolog 2 isoform a
NM_172110.4	NP_742108.2	eyes absent homolog 2 isoform c

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H2AXY142 phosphatase activity	IDA IDA: Inferred from direct assay	19351884	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	19351884	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19497856	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 2

Related Diseases

Diseases

Alias

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

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

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

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138657	NCGC00378430	Inhibitor	99.58%	Unkown
HY-133512	NCGC00249987	Inhibitor	99.91%	Unkown
HY-133511	MLS000544460	Inhibitor	99.74%	Unkown
HY-162592	EYA2-IN-1		/	Unkown
HY-RS04612	EYA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EYA2	VGNC	VGNC:62014
Rattus norvegicus	EYA2	RGD	RGD:620096
Bos taurus	EYA2	VGNC	VGNC:28671
Canis familiaris	EYA2	VGNC	VGNC:40537
Macaca mulatta	EYA2	VGNC	VGNC:72454
Mus musculus	EYA2	MGD	MGI:109341

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