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Aliases for EYA2 Gene

Aliases for EYA2 Gene

  • EYA Transcriptional Coactivator And Phosphatase 2 2 3 5
  • EAB1 3 4
  • Eyes Absent (Drosophila) Homolog 2 2
  • Eyes Absent Homolog 2 (Drosophila) 2
  • Eyes Absent Homolog 2 3
  • EC 3.1.3.48 4

External Ids for EYA2 Gene

Previous GeneCards Identifiers for EYA2 Gene

  • GC20P045251
  • GC20P046161
  • GC20P046208
  • GC20P044956
  • GC20P045523
  • GC20P042266

Summaries for EYA2 Gene

Entrez Gene Summary for EYA2 Gene

  • 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]

GeneCards Summary for EYA2 Gene

EYA2 (EYA Transcriptional Coactivator And Phosphatase 2) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.

UniProtKB/Swiss-Prot for EYA2 Gene

  • Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905).

Gene Wiki entry for EYA2 Gene

Additional gene information for EYA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA2 Gene

Genomics for EYA2 Gene

GeneHancer (GH) Regulatory Elements for EYA2 Gene

Promoters and enhancers for EYA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J046894 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 656.2 +0.7 694 1.5 SIN3A FEZF1 ZNF335 GLIS2 ZSCAN5C SCRT2 ZEB2 ZNF341 ZBTB33 ZNF24 EYA2 ZNF334 LOC101927355
GH20J046928 Enhancer 0.8 Ensembl ENCODE 20.5 +34.2 34228 0.3 BACH1 MAFG SP1 ZNF316 NFE2 HNF4A EMSY MAFK EYA2 GC20P046944 LOC101927355
GH20J046945 Enhancer 0.7 dbSUPER 22.6 +51.2 51209 1.5 ARNT BACH1 FEZF1 ZIC2 YY1 HIC1 ZNF316 MAFK MAFG OSR2 GC20P046944 EYA2 GAPDHP54
GH20J046958 Enhancer 0.9 ENCODE dbSUPER 15.5 +64.8 64814 1.6 ZNF146 FOXA2 SIN3A ZNF664 CTBP1 FOSL2 RCOR1 PRDM10 FOS MAFK EYA2 GC20P046944 GAPDHP54
GH20J047313 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.4 +433.1 433057 28 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 GLIS1 RCOR2 ZMYND8 TP53RK SLC35C2 NCOA3 RPL35AP RNU6-497P EYA2 LOC100131496 ENSG00000273451 GC20M047326
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EYA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EYA2 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • POU6F1 (c2)
  • MyoD
  • c-Rel
  • USF-1
  • USF1
  • NF-kappaB
  • NF-kappaB1
  • LCR-F1

Genomic Locations for EYA2 Gene

Genomic Locations for EYA2 Gene
chr20:46,894,624-47,188,844
(GRCh38/hg38)
Size:
294,221 bases
Orientation:
Plus strand
chr20:45,523,263-45,817,492
(GRCh37/hg19)
Size:
294,230 bases
Orientation:
Plus strand

Genomic View for EYA2 Gene

Genes around EYA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EYA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EYA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA2 Gene

Proteins for EYA2 Gene

  • Protein details for EYA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00167-EYA2_HUMAN
    Recommended name:
    Eyes absent homolog 2
    Protein Accession:
    O00167
    Secondary Accessions:
    • Q5JSW8
    • Q86U84
    • Q96CV6
    • Q96H97
    • Q99503
    • Q99812
    • Q9BWF6
    • Q9H4S3
    • Q9H4S9
    • Q9NPZ4
    • Q9UIX7

    Protein attributes for EYA2 Gene

    Size:
    538 amino acids
    Molecular mass:
    59232 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with DACH2 and SIX1, and probably with SIX2, SIX4 and SIX5. Interacts with CAPN8 (By similarity). Interacts with GNAZ and GNAI2; this precludes interaction with SIX1.
    SequenceCaution:
    • Sequence=AAH13882.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EYA2 Gene

    Alternative splice isoforms for EYA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYA2 Gene

Post-translational modifications for EYA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EYA2 Gene

Domains & Families for EYA2 Gene

Gene Families for EYA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EYA2 Gene

Graphical View of Domain Structure for InterPro Entry

O00167

UniProtKB/Swiss-Prot:

EYA2_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
genes like me logo Genes that share domains with EYA2: view

Function for EYA2 Gene

Molecular function for EYA2 Gene

UniProtKB/Swiss-Prot Function:
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. Tyr-142 phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905).
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.9 uM for H2AXY142ph {ECO:0000269 PubMed:19351884}; KM=80 uM for H2AXS139ph {ECO:0000269 PubMed:19351884};
GENATLAS Biochemistry:
Drosophila eyes absent gene (eya),homolog 2,52kDa

Enzyme Numbers (IUBMB) for EYA2 Gene

Phenotypes From GWAS Catalog for EYA2 Gene

Gene Ontology (GO) - Molecular Function for EYA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 19351884
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IDA 19351884
GO:0005515 protein binding IPI 19497856
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with EYA2: view
genes like me logo Genes that share phenotypes with EYA2: view

Animal Model Products

miRNA for EYA2 Gene

miRTarBase miRNAs that target EYA2

Clone Products

  • Addgene plasmids for EYA2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EYA2 Gene

Localization for EYA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYA2 Gene

Cytoplasm. Nucleus. Note=Retained in the cytoplasm via interaction with GNAZ and GNAI2 (PubMed:10906137). Interaction with SIX1, SIX2, SIX4 or SIX5 is required for translocation to the nucleus (PubMed:10906137, PubMed:12500905). {ECO:0000269 PubMed:10906137, ECO:0000269 PubMed:12500905}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EYA2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EYA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with EYA2: view

Pathways & Interactions for EYA2 Gene

genes like me logo Genes that share pathways with EYA2: view

Gene Ontology (GO) - Biological Process for EYA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006325 chromatin organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006470 protein dephosphorylation IEA --
genes like me logo Genes that share ontologies with EYA2: view

No data available for SIGNOR curated interactions for EYA2 Gene

Drugs & Compounds for EYA2 Gene

(3) Drugs for EYA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Magnesium Approved Nutra 0

(1) Additional Compounds for EYA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with EYA2: view

Transcripts for EYA2 Gene

Unigene Clusters for EYA2 Gene

Eyes absent homolog 2 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for EYA2

Alternative Splicing Database (ASD) splice patterns (SP) for EYA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - -
SP2: -
SP3: - - - -
SP4:
SP5:

Relevant External Links for EYA2 Gene

GeneLoc Exon Structure for
EYA2
ECgene alternative splicing isoforms for
EYA2

Expression for EYA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EYA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EYA2 Gene

This gene is overexpressed in Esophagus - Mucosa (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of EYA2 Gene:

EYA2

SOURCE GeneReport for Unigene cluster for EYA2 Gene:

Hs.472877

mRNA Expression by UniProt/SwissProt for EYA2 Gene:

O00167-EYA2_HUMAN
Tissue specificity: Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart.

Evidence on tissue expression from TISSUES for EYA2 Gene

  • Lung(4.5)
  • Eye(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with EYA2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EYA2 Gene

Orthologs for EYA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EYA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EYA2 34 33
  • 99.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EYA2 34 33
  • 91.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EYA2 34 33
  • 90.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA2 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya2 33
  • 83.68 (n)
mouse
(Mus musculus)
Mammalia Eya2 16 34 33
  • 83.65 (n)
oppossum
(Monodelphis domestica)
Mammalia EYA2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EYA2 34 33
  • 76.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYA2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya2 33
  • 73.92 (n)
zebrafish
(Danio rerio)
Actinopterygii eya2 34 33
  • 67.66 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eya 34 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eya-1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 34
  • 61 (a)
OneToMany
Species where no ortholog for EYA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EYA2 Gene

ENSEMBL:
Gene Tree for EYA2 (if available)
TreeFam:
Gene Tree for EYA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EYA2: view image

Paralogs for EYA2 Gene

Paralogs for EYA2 Gene

(4) SIMAP similar genes for EYA2 Gene using alignment to 8 proteins:

  • EYA2_HUMAN
  • B1AKW3_HUMAN
  • E7ETN2_HUMAN
  • L0R6G3_HUMAN
  • Q66T69_HUMAN
  • Q8WXB5_HUMAN
  • Q96J96_HUMAN
  • Q96J97_HUMAN
genes like me logo Genes that share paralogs with EYA2: view

Variants for EYA2 Gene

Sequence variations from dbSNP and Humsavar for EYA2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000001479 -- 46,949,336(+) G/T intron_variant
rs1000006222 -- 47,109,046(+) G/A intron_variant
rs1000014090 -- 46,935,812(+) A/G intron_variant
rs1000024300 -- 46,926,398(+) C/T intron_variant
rs1000029479 -- 46,974,870(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EYA2 Gene

Variant ID Type Subtype PubMed ID
dgv162n111 CNV deletion 26073780
esv2421702 CNV deletion 20811451
esv2668903 CNV deletion 23128226
esv2676598 CNV deletion 23128226
esv2722466 CNV deletion 23290073
esv2758798 CNV loss 17122850
esv2763674 CNV loss 21179565
esv33497 CNV loss 17666407
esv3557135 CNV deletion 23714750
esv3567994 CNV loss 25503493
esv3567995 CNV loss 25503493
esv3567996 CNV loss 25503493
esv3645964 CNV loss 21293372
esv3645965 CNV gain 21293372
esv3645966 CNV loss 21293372
nsv1061899 CNV loss 25217958
nsv1072118 CNV deletion 25765185
nsv1073063 CNV deletion 25765185
nsv1116869 CNV deletion 24896259
nsv1127840 CNV deletion 24896259
nsv1136041 CNV deletion 24896259
nsv1147471 CNV deletion 26484159
nsv1160679 CNV deletion 26073780
nsv178722 CNV deletion 16902084
nsv179078 CNV deletion 16902084
nsv442781 CNV loss 18776908
nsv473811 CNV novel sequence insertion 20440878
nsv510788 CNV deletion 20534489
nsv828734 CNV loss 20364138
nsv962581 CNV duplication 23825009

Variation tolerance for EYA2 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EYA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EYA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYA2 Gene

Disorders for EYA2 Gene

Additional Disease Information for EYA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EYA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EYA2 Gene

Publications for EYA2 Gene

  1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. (PMID: 9020840) Abdelhak S … Petit C (Nature genetics 1997) 2 3 4 22 58
  2. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PMID: 12500905) Fougerousse F … Maire P (Journal of muscle research and cell motility 2002) 3 4 22 58
  3. The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins. (PMID: 10906137) Fan X … Manning DR (The Journal of biological chemistry 2000) 3 4 22 58
  4. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. (PMID: 9049631) Zimmerman JE … Bonini NM (Genome research 1997) 3 4 22 58
  5. Eyes absent: a gene family found in several metazoan phyla. (PMID: 9195991) Duncan MK … Tomarev SI (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 3 4 22 58

Products for EYA2 Gene

Sources for EYA2 Gene

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