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Aliases for EYA2 Gene

Aliases for EYA2 Gene

  • EYA Transcriptional Coactivator And Phosphatase 2 2 3 5
  • EC 3.1.3.48 4 61
  • EAB1 3 4
  • Eyes Absent (Drosophila) Homolog 2 2
  • Eyes Absent Homolog 2 (Drosophila) 2
  • Eyes Absent Homolog 2 3

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. 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

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

Genomics for EYA2 Gene

Regulatory Elements for EYA2 Gene

Enhancers for EYA2 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
GH20G046928 0.9 Ensembl ENCODE 20.5 +34.2 34228 0.3 SREBF1 ZNF316 MAFG HNF4A NFE2 EMSY MAFK NFE2L2 EYA2 GC20P046944 LOC101927355
GH20G046945 0.7 dbSUPER 22.6 +51.2 51210 1.5 ARNT MAFG FEZF1 ZIC2 OSR2 HIC1 PRDM6 ZNF316 ZNF341 GLIS1 EYA2 GC20P046944 GAPDHP54
GH20G046958 1 ENCODE dbSUPER 15.5 +64.8 64815 1.6 ZNF146 FOXA2 JUN SIN3A RAD21 ZNF664 CTBP1 FOSL2 PRDM10 RCOR1 EYA2 GC20P046944 GAPDHP54
GH20G046820 0.8 dbSUPER 19.1 -73.5 -73530 2.0 CTCF CEBPG ZBTB40 RAD21 SMC3 PRDM10 CREM MIXL1 THAP11 ZNF654 EYA2 GC20P046790 RN7SKP33
GH20G046965 1 ENCODE dbSUPER 12.8 +71.1 71133 0.2 GTF2F1 CTCF ESRRA FOXA2 NFIB NFIA FOXA3 RARA FOXA1 CTBP1 EYA2 GC20P046944 GAPDHP54
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EYA2 on UCSC Golden Path with GeneCards custom track

Promoters for EYA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137842 276 601 ZNF777 ZSCAN26 SUZ12 SIN3A ZNF76 GLIS2 POLR2A PATZ1 ZSCAN29 EZH2

Genomic Location for EYA2 Gene

Chromosome:
20
Start:
46,894,624 bp from pter
End:
47,188,844 bp from pter
Size:
294,221 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

Selected DME Specific Peptides for EYA2 Gene

O00167:
  • GKESCFERI
  • WDLDETII
  • GGVDWMRKLAFRYR
  • MEEMIFNLADTHLFFNDLE
  • PALAKVLL
  • FPIENIYSATK
  • SDDNGQDLS
  • LVTTTQL
  • IGDGVEEEQGAKKH
  • ERVFVWDLDET

Post-translational modifications for EYA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for EYA2 Gene

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

GENATLAS Biochemistry:
Drosophila eyes absent gene (eya),homolog 2,52kDa
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};
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
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).

Enzyme Numbers (IUBMB) 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

CRISPR Products

miRNA for EYA2 Gene

miRTarBase miRNAs that target EYA2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EYA2
  • Applied Biological Materials Clones 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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0006974 cellular response to DNA damage stimulus 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 Nutra 0

(1) Additional Compounds for EYA2 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 EYA2: view

Transcripts for EYA2 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EYA2
  • Applied Biological Materials Clones 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(4.4)
  • Eye(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with EYA2: view

Primer Products

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 35
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia EYA2 34 35
  • 91.31 (n)
dog
(Canis familiaris)
Mammalia EYA2 34 35
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EYA2 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya2 34
  • 83.68 (n)
mouse
(Mus musculus)
Mammalia Eya2 34 16 35
  • 83.65 (n)
oppossum
(Monodelphis domestica)
Mammalia EYA2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EYA2 34 35
  • 76.86 (n)
lizard
(Anolis carolinensis)
Reptilia EYA2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya2 34
  • 73.92 (n)
zebrafish
(Danio rerio)
Actinopterygii eya2 34 35
  • 67.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta eya 36 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 35
  • 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)

Paralogs for EYA2 Gene

Paralogs for EYA2 Gene

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

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 Sequence Context AA Info Type
rs1000001479 -- 46,949,336(+) GGAGG(G/T)TTTAA intron-variant
rs1000006222 -- 47,109,046(+) AGTAG(A/G)CTGGG intron-variant
rs1000014090 -- 46,935,812(+) ATATT(A/G)ATATA intron-variant
rs1000018403 -- 47,066,429(+) CTGCC(-/T)TTTGA intron-variant
rs1000024300 -- 46,926,398(+) GAGAA(C/T)CAAAG 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)

Relevant External Links for EYA2 Gene

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

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

Disorders for EYA2 Gene

Relevant External Links for EYA2

Genetic Association Database (GAD)
EYA2
Human Genome Epidemiology (HuGE) Navigator
EYA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYA2

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. (Nat. Genet. 1997) 2 3 4 22 64
  2. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PMID: 12500905) Fougerousse F. … Maire P. (J. Muscle Res. Cell Motil. 2002) 3 4 22 64
  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 D.R. (J. Biol. Chem. 2000) 3 4 22 64
  4. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. (PMID: 9049631) Zimmerman J.E. … Bonini N.M. (Genome Res. 1997) 3 4 22 64
  5. Eyes absent: a gene family found in several metazoan phyla. (PMID: 9195991) Duncan M.K. … Tomarev S.I. (Mamm. Genome 1997) 3 4 22 64

Products for EYA2 Gene

  • Addgene plasmids for EYA2

Sources for EYA2 Gene

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