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

    Gene ID: 2139, updated on 2-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 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)

    Genotypes

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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