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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 63
  • EAB1 3 4
  • Eyes Absent (Drosophila) Homolog 2 2
  • Eyes Absent Homolog 2 (Drosophila) 2

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 EYA4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA2 Gene

Genomics for EYA2 Gene

Regulatory Elements for EYA2 Gene

Promoters for EYA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EYA2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for EYA2 Gene at MOPED

Post-translational modifications for EYA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EYA2 Gene

Domains & Families for EYA2 Gene

Protein Domains for EYA2 Gene

InterPro:
ProtoNet:

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

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

Animal Model Products

miRNA for EYA2 Gene

miRTarBase miRNAs that target EYA2

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for EYA2 Gene COMPARTMENTS Subcellular localization image for EYA2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 2
extracellular 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EYA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007501 mesodermal cell fate specification TAS 9020840
GO:0014706 striated muscle tissue development 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

(1) Drugs for EYA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with EYA2: view

Transcripts for EYA2 Gene

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 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).

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.
genes like me logo Genes that share expression patterns with EYA2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
EYA2 35
  • 99.19 (n)
  • 98.88 (a)
cow
(Bos Taurus)
Mammalia EYA2 36
  • 93 (a)
OneToOne
EYA2 35
  • 91.31 (n)
  • 92.92 (a)
dog
(Canis familiaris)
Mammalia EYA2 35
  • 90.71 (n)
  • 92.57 (a)
EYA2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eya2 16
Eya2 35
  • 83.65 (n)
  • 88.91 (a)
Eya2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EYA2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA2 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya2 35
  • 83.68 (n)
  • 88.51 (a)
chicken
(Gallus gallus)
Aves EYA2 35
  • 76.86 (n)
  • 81.99 (a)
EYA2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYA2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya2 35
  • 73.92 (n)
  • 79.18 (a)
zebrafish
(Danio rerio)
Actinopterygii eya2 36
  • 66 (a)
OneToOne
eya2 35
  • 67.66 (n)
  • 67.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta eya 36
  • 31 (a)
OneToMany
eya 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 36
  • 61 (a)
OneToMany
Species with no ortholog for EYA2:
  • 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
rs2275596 - 47,005,033(+) CTACC(C/T)CCTAT reference, missense
rs866936 - 47,089,289(+) GAGAC(A/G)CAGAC reference, missense
rs947011 -- 47,029,807(-) GTTCA(A/G)TAATT intron-variant
rs947012 -- 47,007,278(+) ACGGC(A/G)TAAAG intron-variant
rs947013 -- 47,113,938(-) ACACC(C/T)AGTTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4572n71 CNV Loss 21882294
nsv510788 CNV Loss 20534489
dgv4573n71 CNV Loss 21882294
esv2676598 CNV Deletion 23128226
nsv912906 CNV Loss 21882294
nsv179078 CNV Loss 16902084
dgv1332e1 CNV Complex 17122850
nsv178722 CNV Loss 16902084
esv33497 CNV Loss 17666407
esv2722466 CNV Deletion 23290073
esv2668903 CNV Deletion 23128226
esv2421702 CNV Deletion 20811451
nsv442781 CNV CNV 18776908
nsv828734 CNV Loss 20364138

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

HapMap Linkage Disequilibrium report
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 23 67
  2. Transcriptional coactivator Drosophila eyes absent homologue 2 is up- regulated in epithelial ovarian cancer and promotes tumor growth. (PMID: 15705892) Zhang L. … Coukos G. (Cancer Res. 2005) 3 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for EYA2 Gene

Sources for EYA2 Gene

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