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Aliases for EYA2 Gene

Aliases for EYA2 Gene

  • EYA Transcriptional Coactivator And Phosphatase 2 2 3
  • EC 3.1.3.48 4 64
  • 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

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. 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. 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. 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.

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

Genomic Location for EYA2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EYA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA2 Gene

Regulatory Elements 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; Note=Binds 1 Mg(2+) ion per subunit.;
    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 for EYA2 Gene

Gene Families for EYA2 Gene

HGNC:
  • PTPE :Protein tyrosine phosphatases / Asp-based PTPs

Protein Domains for EYA2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

EYA2_HUMAN
Family:
  • Belongs to the HAD-like hydrolase superfamily. EYA family.:
    • O00167
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. 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. 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.

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:0004725 protein tyrosine phosphatase activity IDA 19351884
GO:0005515 protein binding IPI 19497856
genes like me logo Genes that share ontologies with EYA2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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. Interaction with SIX1, SIX2, SIX4 or SIX5 is required for translocation to the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EYA2 Gene COMPARTMENTS Subcellular localization image for EYA2 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytoskeleton 1
cytosol 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EYA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with EYA2: view

Pathways for EYA2 Gene

SuperPathways for EYA2 Gene

No Data Available

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 --
GO:0007275 multicellular organismal development --
genes like me logo Genes that share ontologies with EYA2: view

No data available for Pathways by source for EYA2 Gene

Compounds for EYA2 Gene

(3) HMDB Compounds for EYA2 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
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 (5.1).

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 expressions with EYA2: view

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
  • 99.19 (n)
  • 98.88 (a)
EYA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EYA2 36
  • 91.31 (n)
  • 92.92 (a)
EYA2 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EYA2 36
  • 90.71 (n)
  • 92.57 (a)
EYA2 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eya2 36
  • 83.65 (n)
  • 88.91 (a)
Eya2 16
Eya2 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EYA2 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA2 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya2 36
  • 83.68 (n)
  • 88.51 (a)
chicken
(Gallus gallus)
Aves EYA2 36
  • 76.86 (n)
  • 81.99 (a)
EYA2 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYA2 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya2 36
  • 73.92 (n)
  • 79.18 (a)
zebrafish
(Danio rerio)
Actinopterygii eya2 36
  • 67.66 (n)
  • 67.3 (a)
eya2 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eya 37
  • 31 (a)
OneToMany
eya 38
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 37
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 37
  • 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

Selected 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 MAF
rs2228 -- 47,181,293(-) TGTCT(C/T)TGAGG intron-variant
rs714242 -- 47,072,853(+) TTTCA(A/G)GCTAC intron-variant
rs732250 -- 46,978,139(+) gttgg(C/T)cccag intron-variant
rs732251 -- 46,978,254(+) GCCAC(A/G)TGGAC intron-variant
rs734599 -- 46,962,912(+) cctgc(A/G)tggca 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

Relevant External Links for EYA2 Gene

HapMap Linkage Disequilibrium report
EYA2

Disorders for EYA2 Gene

Relevant External Links for EYA2

Genetic Association Database (GAD)
EYA2
Human Genome Epidemiology (HuGE) Navigator
EYA2
genes like me logo Genes that share disorders with EYA2: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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 23
  3. Eyes absent: a gene family found in several metazoan phyla. (PMID: 9195991) Duncan M.K. … Tomarev S.I. (Mamm. Genome 1997) 3 4 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 4 23
  5. 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 23

Products for EYA2 Gene

Sources for EYA2 Gene

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