EYA2 - EYA transcriptional coactivator and phosphatase 2 Gene

Also Known as EAB1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2139

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
Molecular Function GO Annotation Evidence References 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

EYA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EYA2 O00167 SIX1 Homo sapiens Q15475
Y2H
21516116
Intra
EYA2 O00167 SIX1 Homo sapiens Q15475 20211142
Cross: Cross-species interaction Intra: Intraspecies interaction

EYA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83160 EYA2 Antibody (YA2905) WB, IP Human
HY-P83160A EYA2 Antibody (YA2905)(PBS only) WB, IP Human

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

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
Others EYA2 NCBI