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Aliases for EYA3 Gene

Aliases for EYA3 Gene

  • EYA Transcriptional Coactivator And Phosphatase 3 2 3 5
  • EC 3.1.3.48 4 58
  • Eyes Absent (Drosophila) Homolog 3 2
  • Eyes Absent Homolog 3 (Drosophila) 2

External Ids for EYA3 Gene

Previous GeneCards Identifiers for EYA3 Gene

  • GC01P027044
  • GC01M027311
  • GC01M027533
  • GC01M027905
  • GC01M027901
  • GC01M027981
  • GC01M028170
  • GC01M028296
  • GC01M026556

Summaries for EYA3 Gene

Entrez Gene Summary for EYA3 Gene

  • This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for EYA3 Gene

EYA3 (EYA Transcriptional Coactivator And Phosphatase 3) is a Protein Coding gene. Diseases associated with EYA3 include Ewing Sarcoma. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. GO annotations related to this gene include chromatin binding and protein tyrosine/serine/threonine phosphatase activity. An important paralog of this gene is EYA4.

UniProtKB/Swiss-Prot for EYA3 Gene

  • Tyrosine phosphatase that specifically dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph). 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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye.

Additional gene information for EYA3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA3 Gene

Genomics for EYA3 Gene

Regulatory Elements for EYA3 Gene

Enhancers for EYA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H028881 2 FANTOM5 Ensembl ENCODE dbSUPER 43.3 -796.5 -796547 6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 SRSF4 TRNAU1AP GMEB1 SNHG12 YTHDF2 TMEM200B PHACTR4 RCC1 EYA3 ENSG00000237934
GH01H027979 1.6 FANTOM5 Ensembl ENCODE 39.2 +109.0 109043 1 HDGF PKNOX1 ATF1 FOXA2 ARNT TCF12 GATA2 ATF7 RUNX3 NCOA1 EYA3 FAM76A GMEB1 PTAFR THEMIS2 YTHDF2 ACTG1P20 RCC1 SMPDL3B RPA2
GH01H028091 1.4 FANTOM5 Ensembl ENCODE 41.2 -2.6 -2606 0 HDGF RB1 ARNT RAD21 CHAMP1 SCRT2 ZNF143 ZNF207 ZNF391 ATF7 EYA3 PTAFR FGR SESN2 THEMIS2 STX12 MED18 DNAJC8 SPCS2P4
GH01H028086 1.1 ENCODE 50.8 +0.7 667 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 EYA3 YTHDF2 GMEB1 SNHG12 RCC1 TRNAU1AP ACTG1P20 SNORA73B SNHG3 ENSG00000231344
GH01H028063 1.2 Ensembl ENCODE 46.5 +23.2 23164 3 HDGF PKNOX1 ATF1 ARNT FEZF1 TCF12 FOS ATF7 NCOA1 SMARCB1 EYA3 PTAFR RNU7-29P RNU6-176P DNAJC8 ATPIF1 SMPDL3B GC01M028064 GC01M028088 GC01M028089
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EYA3 on UCSC Golden Path with GeneCards custom track

Promoters for EYA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003811 296 2001 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for EYA3 Gene

Chromosome:
1
Start:
27,970,344 bp from pter
End:
28,088,696 bp from pter
Size:
118,353 bases
Orientation:
Minus strand

Genomic View for EYA3 Gene

Genes around EYA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EYA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EYA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA3 Gene

Proteins for EYA3 Gene

  • Protein details for EYA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99504-EYA3_HUMAN
    Recommended name:
    Eyes absent homolog 3
    Protein Accession:
    Q99504
    Secondary Accessions:
    • A8K190
    • B4DIR7
    • B4DNZ7
    • O95463
    • Q8IVX7
    • Q99813

    Protein attributes for EYA3 Gene

    Size:
    573 amino acids
    Molecular mass:
    62663 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with SIX1 and DACH1, and probably SIX2, SIX4, SIX5.

    Alternative splice isoforms for EYA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYA3 Gene

Selected DME Specific Peptides for EYA3 Gene

Q99504:
  • WDLDETII
  • GGVDWMRKLAFRYR
  • GKESCFERI
  • PALAKVLL
  • FPIENIYSATK
  • SDDNGQDLS

Post-translational modifications for EYA3 Gene

  • Ser-266 phosphorylation is required for localization at sites of DNA damage and directing interaction with H2AX.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for EYA3 Gene

Gene Families for EYA3 Gene

Protein Domains for EYA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q99504

UniProtKB/Swiss-Prot:

EYA3_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 EYA3: view

Function for EYA3 Gene

Molecular function for EYA3 Gene

GENATLAS Biochemistry:
Drosophila eyes absent gene (eya) homolog 3,Dres67,mouse homolog undetectable in embryo (E10,5;E12,5;E17,5)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.8 uM for H2AXY142ph {ECO:0000269 PubMed:19351884}; KM=72 uM for H2AXS139ph {ECO:0000269 PubMed:19351884};
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Tyrosine phosphatase that specifically dephosphorylates Tyr-142 of histone H2AX (H2AXY142ph). 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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye.

Enzyme Numbers (IUBMB) for EYA3 Gene

Phenotypes From GWAS Catalog for EYA3 Gene

Gene Ontology (GO) - Molecular Function for EYA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity TAS --
GO:0005515 protein binding IPI 19234442
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EYA3: view
genes like me logo Genes that share phenotypes with EYA3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EYA3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EYA3 Gene

Localization for EYA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYA3 Gene

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:19234442). With decreasing efficiency, translocalized to the nucleus by SIX2 and SIX5, and SIX4, respectively (By similarity). {ECO:0000250 UniProtKB:P97480, ECO:0000269 PubMed:19234442}.

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 EYA3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EYA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19234442
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with EYA3: view

Pathways & Interactions for EYA3 Gene

genes like me logo Genes that share pathways with EYA3: view

SIGNOR curated interactions for EYA3 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for EYA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IMP 19234442
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 EYA3: view

Drugs & Compounds for EYA3 Gene

(3) Drugs for EYA3 Gene - From: HMDB

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

(1) Additional Compounds for EYA3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with EYA3: view

Transcripts for EYA3 Gene

Unigene Clusters for EYA3 Gene

Eyes absent homolog 3 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EYA3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EYA3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1:
SP2: - - -
SP3: - - -

Relevant External Links for EYA3 Gene

GeneLoc Exon Structure for
EYA3
ECgene alternative splicing isoforms for
EYA3

Expression for EYA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EYA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EYA3 Gene

This gene is overexpressed in Prostate (26.0), Testis (10.4), and Fetal ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EYA3 Gene



Protein tissue co-expression partners for EYA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EYA3 Gene:

EYA3

SOURCE GeneReport for Unigene cluster for EYA3 Gene:

Hs.185774

Evidence on tissue expression from TISSUES for EYA3 Gene

  • Nervous system(4.7)
  • Eye(4)
genes like me logo Genes that share expression patterns with EYA3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EYA3 Gene

Orthologs for EYA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EYA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EYA3 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia EYA3 33 34
  • 94.65 (n)
cow
(Bos Taurus)
Mammalia EYA3 33 34
  • 94.07 (n)
oppossum
(Monodelphis domestica)
Mammalia EYA3 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eya3 33 16 34
  • 91.19 (n)
rat
(Rattus norvegicus)
Mammalia Eya3 33
  • 90.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EYA3 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EYA3 33 34
  • 81.06 (n)
lizard
(Anolis carolinensis)
Reptilia EYA3 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya3 33
  • 71.02 (n)
Str.6428 33
zebrafish
(Danio rerio)
Actinopterygii eya3 33 34
  • 59.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta eya 35 34
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 34
  • 55 (a)
OneToMany
Species where no ortholog for EYA3 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 EYA3 Gene

ENSEMBL:
Gene Tree for EYA3 (if available)
TreeFam:
Gene Tree for EYA3 (if available)

Paralogs for EYA3 Gene

Paralogs for EYA3 Gene

(4) SIMAP similar genes for EYA3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with EYA3: view

Variants for EYA3 Gene

Sequence variations from dbSNP and Humsavar for EYA3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000001079 -- 28,063,252(+) CTACA(A/C/T)TGTAT intron-variant
rs1000008028 -- 28,017,371(+) CACTC(A/G)TTTTG intron-variant
rs1000038604 -- 28,008,351(+) TACAT(A/T)AAAAT intron-variant
rs1000059222 -- 28,084,808(+) TTCAC(C/T)GTGTT intron-variant
rs1000075812 -- 28,075,541(+) AAACT(C/T)GATCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EYA3 Gene

Variant ID Type Subtype PubMed ID
esv2255639 CNV deletion 18987734
esv2641492 CNV deletion 19546169
nsv1122316 CNV deletion 24896259
nsv947420 CNV duplication 23825009
nsv998557 CNV gain 25217958

Variation tolerance for EYA3 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EYA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EYA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYA3 Gene

Disorders for EYA3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EYA3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ewing sarcoma
  • neuroepithelioma
- elite association - COSMIC cancer census association via MalaCards
Search EYA3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EYA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYA3
genes like me logo Genes that share disorders with EYA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EYA3 Gene

Publications for EYA3 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 60
  2. Dephosphorylation of the C-terminal tyrosyl residue of the DNA damage-related histone H2A.X is mediated by the protein phosphatase eyes absent. (PMID: 19351884) Krishnan N … Tonks NK (The Journal of biological chemistry 2009) 3 4 60
  3. Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. (PMID: 19234442) Cook PJ … Rosenfeld MG (Nature 2009) 3 4 60
  4. EYA4, a novel vertebrate gene related to Drosophila eyes absent. (PMID: 9887327) Borsani G … Hanson I (Human molecular genetics 1999) 3 4 60
  5. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. (PMID: 9049631) Zimmerman JE … Bonini NM (Genome research 1997) 3 4 60

Products for EYA3 Gene

Sources for EYA3 Gene

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