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EYA2 EYA transcriptional coactivator and phosphatase 2 [ Homo sapiens (human) ]

Gene ID: 2139, updated on 27-Nov-2024

Summary

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Official Symbol
EYA2provided by HGNC
Official Full Name
EYA transcriptional coactivator and phosphatase 2provided by HGNC
Primary source
HGNC:HGNC:3520
See related
Ensembl:ENSG00000064655 MIM:601654; AllianceGenome:HGNC:3520
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAB1
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]
Expression
Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues See more
Orthologs
mouse all
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Genomic context

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See EYA2 in Genome Data Viewer
Location:
20q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46894843..47188844)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48632937..48926940)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45523482..45817492)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 33 Neighboring gene ribosomal protein L13 pseudogene 14 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:45529211-45530410 Neighboring gene NANOG hESC enhancer GRCh37_chr20:45548266-45548793 Neighboring gene EYA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45572445-45573138 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:45573832-45574524 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45663821-45664320 Neighboring gene MPRA-validated peak4229 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45754363-45754876 Neighboring gene Sharpr-MPRA regulatory region 12423 Neighboring gene ribosomal protein S2 pseudogene 54 Neighboring gene microRNA 3616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17980 Neighboring gene Sharpr-MPRA regulatory region 5760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45836841-45837466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45837467-45838090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45863077-45863577 Neighboring gene zinc finger MYND-type containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45881941-45882441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45904588-45905088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45905089-45905589 Neighboring gene Sharpr-MPRA regulatory region 15539 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:45945484-45946683 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947067-45947983 Neighboring gene uncharacterized LOC100131496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45947984-45948902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45950739-45951656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45957753-45958400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45959988-45960488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45964446-45965285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45965286-45966124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45968129-45968628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45971039-45971820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45974595-45975341 Neighboring gene uncharacterized LOC101927377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17984

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase. Anantharajan J, et al. Protein Sci, 2022 Feb. PMID 34761455, Free PMC Article
  2. Transcriptional coactivator Drosophila eyes absent homologue 2 is up-regulated in epithelial ovarian cancer and promotes tumor growth. Zhang L, et al. Cancer Res, 2005 Feb 1. PMID 15705892
  3. A novel Eyes Absent 2 protein is expressed in the human eye. Fee BE, et al. Gene, 2002 Feb 20. PMID 12039049
  4. Aberrant hypomethylation and overexpression of the eyes absent homologue 2 suppresses tumor cell growth of human lung adenocarcinoma cells. Gao T, et al. Oncol Rep, 2015 Nov. PMID 26329363
  5. Epigenetic silencing of EYA2 in pancreatic adenocarcinomas promotes tumor growth. Vincent A, et al. Oncotarget, 2014 May 15. PMID 24810906, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EYA2 tyrosine phosphatase inhibition reduces MYC and prevents medulloblastoma progression.
    Title: EYA2 tyrosine phosphatase inhibition reduces MYC and prevents medulloblastoma progression.
  2. Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase.
    Title: Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase.
  3. EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling.
    Title: EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling.
  4. Targeting EYA2 tyrosine phosphatase activity in glioblastoma stem cells induces mitotic catastrophe.
    Title: Targeting EYA2 tyrosine phosphatase activity in glioblastoma stem cells induces mitotic catastrophe.
  5. MicroRNA-219 inhibits cell viability and metastasis in papillary thyroid carcinoma by targeting EYA2.
    Title: MicroRNA-219 inhibits cell viability and metastasis in papillary thyroid carcinoma by targeting EYA2.
  6. The inhibition of AKT attenuated EYA2-induced Bcl-2 upregulation. In conclusion, our data demonstrated that Eya2 was upregulated in prostate cancers. EYA2 promotes cell proliferation and invasion as well as cancer progression by regulating docetaxel sensitivity and mitochondrial membrane potential, possibly via the AKT/Bcl-2 axis.
    Title: Eya2 Is Overexpressed in Human Prostate Cancer and Regulates Docetaxel Sensitivity and Mitochondrial Membrane Potential through AKT/Bcl-2 Signaling.
  7. study revealed that miR-219a-5p function as tumour suppressor regulates osteosarcoma cell invasiveness by repressing EYA2 expression.
    Title: miR-219a-5p represses migration and invasion of osteosarcoma cells via targeting EYA2.
  8. our data indicate that Eya2 may serve as a potential oncoprotein in human astrocytoma. Eya2 regulates astrocytoma cell proliferation and invasion, possibly through the regulation of ERK signaling.
    Title: Eya2 overexpression promotes the invasion of human astrocytoma through the regulation of ERK/MMP9 signaling.
  9. EYA2 knockdown led to decreased metastatic spread of breast cancer cells to the lung and greatly attenuated the ability of EGFR to regulate the epithelial-to-mesenchymal transition markers.
    Title: The EGFR/miR-338-3p/EYA2 axis controls breast tumor growth and lung metastasis.
  10. High EYA2 expression is associated with acute myeloid leukemia.
    Title: Eya2, a Target Activated by Plzf, Is Critical for PLZF-RARA-Induced Leukemogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone H2AXY142 phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables non-membrane spanning protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein tyrosine phosphatase activity, metal-dependent IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
  
involved_in mesodermal cell fate specification TAS
Traceable Author Statement
more info
 PubMed 
involved_in mitochondrial outer membrane permeabilization IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
eyes absent homolog 2
NP_005235.3
NP_742108.2
XP_005260384.1
XP_016883210.1
XP_047295966.1
XP_054179166.1
XP_054179167.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011673.2 RefSeqGene

    Range
    4974..298975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005244.5 → NP_005235.3  eyes absent homolog 2 isoform a

    See identical proteins and their annotated locations for NP_005235.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as EYA2I, represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL022342, AL121776, AL354766, AL359434
    Consensus CDS
    CCDS13403.1
    UniProtKB/Swiss-Prot
    O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7
    UniProtKB/TrEMBL
    A8KAG7
    Related
    ENSP00000333640.5, ENST00000327619.10
    Conserved Domains (2) summary
    TIGR01658
    Location:267 → 538
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:269 → 514
    Hydrolase; haloacid dehalogenase-like hydrolase

  2. NM_172110.4 → NP_742108.2  eyes absent homolog 2 isoform c

    See identical proteins and their annotated locations for NP_742108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    BC013882
    Consensus CDS
    CCDS54471.1
    UniProtKB/TrEMBL
    A8KAG7
    Related
    ENSP00000349986.3, ENST00000357410.7
    Conserved Domains (1) summary
    TIGR01658
    Location:267 → 459
    EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46894843..47188844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027721.3 → XP_016883210.1  eyes absent homolog 2 isoform X2

    UniProtKB/TrEMBL
    E7ETN2, Q66T69
    Related
    ENSP00000483392.1, ENST00000611592.4

  2. XM_005260327.3 → XP_005260384.1  eyes absent homolog 2 isoform X3

    UniProtKB/TrEMBL
    A8KAG7
    Conserved Domains (2) summary
    TIGR01658
    Location:185 → 456
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:187 → 432
    Hydrolase; haloacid dehalogenase-like hydrolase

  3. XM_047440010.1 → XP_047295966.1  eyes absent homolog 2 isoform X1

    UniProtKB/Swiss-Prot
    O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    48632937..48926940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323191.1 → XP_054179166.1  eyes absent homolog 2 isoform X2

    UniProtKB/TrEMBL
    E7ETN2

  2. XM_054323192.1 → XP_054179167.1  eyes absent homolog 2 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172111.1: Suppressed sequence

    Description
    NM_172111.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_172112.1: Suppressed sequence

    Description
    NM_172112.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  3. NM_172113.1: Suppressed sequence

    Description
    NM_172113.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00167.2 GenPept UniProtKB/Swiss-Prot:O00167

Gene LinkOut

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