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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EYA2 Gene

protein-coding   GIFtS: 57
GCID: GC20P045523

eyes absent homolog 2 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 2 )
 Explore 9 diseases affiliated with
EYA2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EYA2    

Aliases
for EYA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Eyes Absent Homolog 2 (Drosophila)1 2
EAB11 2 3
EC 3.1.3.483 8
Eyes Absent (Drosophila) Homolog 21
Eyes Absent Homolog 22

External Ids:    HGNC: 35201   Entrez Gene: 21392   Ensembl: ENSG000000646557   OMIM: 6016545   UniProtKB: O001673   

Export aliases for EYA2 gene to outside databases

Previous GC identifers: GC20P045251 GC20P046161 GC20P046208 GC20P044956 GC20P042266


Summaries
for EYA2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EYA2:
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)

UniProtKB/Swiss-Prot: EYA2_HUMAN, O00167
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. Its function as histone phosphatase probably explains its
role in transcription regulation during organogenesis. Coactivates SIX1. Seems to coactivate SIX2, SIX4 and SIX5.
Together with SIX1 and DACH2 seem to be involved in myogenesis. May be involved in development of the eye. Interaction
with GNAZ and GNAI2 prevents nuclear translocation and transcriptional activity

Gene Wiki entry for EYA2


Genomic Views
for EYA2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EYA2 gene promoter:
         USF1   MyoD   POU6F1 (c2)   LCR-F1   NF-kappaB   PPAR-gamma1   c-Rel   USF-1   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EYA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EYA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EYA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.1   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.1

EYA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EYA2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P045523:  view genomic region     (about GC identifiers)

Start:
 45,523,263 bp from pter      End:
 45,817,492 bp from pter
Size:
 294,230 bases      Orientation:
 plus strand

Proteins
for EYA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EYA2_HUMAN, O00167 (See protein sequence)
Recommended Name: Eyes absent homolog 2  
Size: 538 amino acids; 59232 Da
Cofactor: Binds 1 Mg(2+) ion per subunit
Subunit: Interacts with GNAZ and GNAI2. Interacts with DACH2 and SIX1, and probably with SIX2, SIX4 and SIX5. Interacts
with CAPN8 (By similarity)
Subcellular location: Cytoplasm. Nucleus
Developmental stage: At the begin of fourth week of development detected in cytoplasm of somite cells. Between the
sixth and eighth week of development detected in cytoplasm of limb bud cells
Sequence caution: Sequence=AAH13882.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for EYA2:
3GEB (3D)        3HB0 (3D)        3HB1 (3D)    
Secondary accessions: Q5JSW8 Q86U84 Q96CV6 Q96H97 Q99503 Q99812 Q9BWF6 Q9H4S3 Q9H4S9 Q9NPZ4 Q9UIX7
Alternative splicing: 3 isoforms:  O00167-1   O00167-2   O00167-3   

Explore the universe of human proteins at neXtProt for EYA2: NX_O00167

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00167

    • 4/10 DME Specific Peptides for EYA2 (O00167) (see all 10)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 

    EYA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_005235.3  NP_742108.2  

    ENSEMBL proteins: 
     ENSP00000333640   ENSP00000349986   ENSP00000417105   ENSP00000420701   ENSP00000395427  
     ENSP00000321590  

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    Novus Biologicals EYA2 Proteins
    Novus Biologicals EYA2 Lysate
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    ProSpec Recombinant Protein for EYA2
    Uscn Proteins for EYA2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--


    EYA2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for EYA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EYA2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006545 EYA

    Graphical View of Domain Structure for InterPro Entry O00167

    ProtoNet protein and cluster: O00167

    UniProtKB/Swiss-Prot: EYA2_HUMAN, O00167
    Similarity: Belongs to the HAD-like hydrolase superfamily. EYA family


    Function
    for EYA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EYA2_HUMAN, O00167
    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. Its function as histone phosphatase probably explains its
    role in transcription regulation during organogenesis. Coactivates SIX1. Seems to coactivate SIX2, SIX4 and SIX5.
    Together with SIX1 and DACH2 seem to be involved in myogenesis. May be involved in development of the eye. Interaction
    with GNAZ and GNAI2 prevents nuclear translocation and transcriptional activity
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Biophysicochemical properties: Kinetic parameters: KM=1.9 uM for H2AXY142ph; KM=80 uM for H2AXS139ph;

         Genatlas biochemistry entry for EYA2:
    Drosophila eyes absent gene (eya),homolog 2,52kDa

    Enzyme Number (IUBMB): EC 3.1.3.481 2

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate EYA2 (see all 17):
    hsa-miR-30c hsa-miR-3910 hsa-miR-30d hsa-miR-219-5p hsa-miR-570 hsa-miR-508-3p hsa-miR-30a hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmid: EYA2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EYA2 (see all 7)
    OriGene shRNA RFP: EYA2
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EYA2

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA19351884
    GO:0004725protein tyrosine phosphatase activity IDA19351884
    GO:0005515protein binding IPI19497856


    EYA2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for EYA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EYA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/23 Interacting proteins for EYA2 (O001672, 3 ENSP000003336404) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-67736 I2D: score=4 STRING: ENSP00000340176
    DMRTB1Q96MA12, 3, ENSP000003605004MINT-66157 I2D: score=3 STRING: ENSP00000360500
    GNAZP190863, ENSP000002489964I2D: score=1 STRING: ENSP00000248996
    SIX4Q9UIU63, ENSP000002165134I2D: score=2 STRING: ENSP00000216513
    SIX1Q154753, ENSP000002471824I2D: score=6 STRING: ENSP00000247182
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006470protein dephosphorylation ----
    GO:0006915apoptotic process IEA--


    EYA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EYA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EYA2

    3 HMDB Compounds for EYA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    Search CenterWatch for drugs/clinical trials and news about EYA2 

    Transcripts
    for EYA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EYA2 gene (5 alternative transcripts): 
    NM_005244.4  NM_172110.3  NM_172111.1  NM_172112.1  NM_172113.1  

    Unigene Clusters for EYA2:

    Eyes absent homolog 2 (Drosophila)
    Hs.472877  [show with all ESTs], Hs.722040  [show with all ESTs], Hs.722415 , Hs.722416
    Unigene Representative Sequences: AL833552, AF455148, AF455150, AF455149
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327619(uc002xsm.3 uc002xsq.3) ENST00000357410(uc010ghp.3)
    ENST00000497062 ENST00000497428(uc021wep.1) ENST00000479843 ENST00000471081
    ENST00000484200 ENST00000458636 ENST00000475856 ENST00000317304

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate EYA2 (see all 17):
    hsa-miR-30c hsa-miR-3910 hsa-miR-30d hsa-miR-219-5p hsa-miR-570 hsa-miR-508-3p hsa-miR-30a hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmid: EYA2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EYA2 (see all 7)
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    Clone
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    Additional cDNA sequence: AF455149.1 

    9 DOTS entries:

    DT.97762741  DT.97795442  DT.97819625  DT.113703  DT.92423903  DT.97791511  DT.100777237  DT.100024382 
    DT.65288101 

    24/125 AceView cDNA sequences (see all 125):

    AW248831 AI630933 AW246028 AF455149 NM_172112 NM_172113 BC000289 BF222576 
    AW139884 NM_172111 BQ942725 AW955722 NM_172110 AW246094 AA773069 BT006682 
    CA489741 AW249252 BC008803 U69178 AY705349 AF455150 BC013882 AI871842 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EYA2    About this scheme

    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:                                                                                                                                    


    ECgene alternative splicing isoforms for EYA2

    Expression
    for EYA2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EYA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGACAGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EYA2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    LimbForelimb Ventral MusclesMyoblastsSkeletal Muscle
    LimbHindlimb Dorsal MuscleMyoblastsSkeletal Muscle
    LimbHindlimb Ventral MuscleMyoblastsSkeletal Muscle
    Head MesenchymeFrontonasal ProcessHead Mesenchyme
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    mK4 (Cell line)Kidney
    mK3 (Cell line)Kidney
    Definitive endoderm-like cells (Generation and expan...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See EYA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EYA2

    SOURCE GeneReport for Unigene clusters: Hs.472877 Hs.722040 Hs.722415 Hs.722416

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

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    In Situ
    Assay Products:     
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    Orthologs
    for EYA2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EYA2 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EYA21 eyes absent homolog 2 (Drosophila) 76.86(n)
    81.99(a)    		   395745  NM_204915.1  NP_990246.1 
    lizard
    (Anolis carolinensis)    		 Reptilia EYA26
    		 --
    		 74(a)
    		 1 ↔ 1
    		 4(144940066-145037990)
    zebrafish
    (Danio rerio)    		 Actinopterygii eya21 eyes absent homolog 2 (Drosophila) 67.66(n)
    67.3(a)    		   447819  NM_001004558.1  NP_001004558.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta eya3 eye-antennal disc metamorphosis hydrolase 61(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea eya-11 Protein EYA-1 42.5(n)
    30.5(a)    		   173293  NM_001025884.3  NP_001021055.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EYA6
    		 eyes absent-like protein
    		 29(a)
    		 1 → many
    		 2(14866832-14868860)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 eyes absent homolog 4, putative, expressed
    		 31(a)
    		 1 → many
    		 6(586544-591230)


    ENSEMBL Gene Tree for EYA2 (if available)
    TreeFam Gene Tree for EYA2 (if available) 

    Paralogs
    for EYA2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EYA2 gene
    EYA32  EYA12  EYA42  
    4 SIMAP similar genes for EYA2 using alignment to 8 protein entries:     EYA2_HUMAN (see all proteins):
    Eab1    EYA1    EYA4    EYA3

    EYA2 for paralogs           About GeneDecksing



    Genomic Variants
    for EYA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6141 NCBI SNPs in EYA2 are shown (see all 6141)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs749871711,2
    		C,F,--42264475(+) GTGTAC/AAGTAA 2 -- us2k11Minor allele frequency- A:0.02NA 120
    rs739087121,2
    		C,--42264556(+) ATGAAG/TTTTCA 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs772608981,2
    		F,--42264681(+) TACTGC/TGGCAG 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs733017881,2
    		C,--42265004(+) CACCAC/TCCTAC 2 -- us2k13Minor allele frequency- T:0.03WA NA 240
    rs778403001,2
    		F,--42265336(+) AAATGA/GGTGTG 2 -- us2k11Minor allele frequency- G:0.06NA 120
    rs768151091,2
    		--42265722(+) TGCCAG/TGGAGA 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs788020201,2
    		F,--42265784(+) GGGCAT/GGTAGG 2 -- us2k11Minor allele frequency- G:0.11WA 118
    rs1135832721,2
    		C,--42266794(+) CCGCCC/TGCCGG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs60181421,2
    		--42268084(+) TGTCTG/ATGACC 2 -- int14Minor allele frequency- A:0.08NA CSA WA 124
    rs2013794911,2
    		C--42268186(+) AAAAAA/GGAGGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for EYA2 (45523263 - 45773263 bp, first 250kb of EYA2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for EYA2
         3 CNVs: 38444 7309 3220
         2 Indels: 12192 12193

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    Disorders / Diseases
    for EYA2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EYA2 for disorders           About GeneDecksing

    OMIM gene information: 601654    OMIM disorders: --

    9 diseases for EYA2:    About MalaCards
    malignant peripheral nerve sheath tumor    pseudosarcomatous fibromatosis    fibromatosis    epithelial ovarian cancer
    anophthalmia    fasciitis    microphthalmia    ovarian cancer
    lung cancer

    Human Genome Epidemiology (HuGE) Navigator: EYA2 (6 documents)

    Export disorders for EYA2 gene to outside databases

    Publications
    for EYA2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EYA2 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with EYA2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. (PubMed id 9020840)1, 2, 3, 9 Abdelhak S.... Petit C. (1997)
    2. Eyes absent: a gene family found in several metazoan phyla. (PubMed id 9195991)1, 2, 9 Duncan M.K....Tomarev S.I. (1997)
    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. (PubMed id 10906137)1, 2, 9 Fan X.... Manning D.R. (2000)
    4. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. (PubMed id 9049631)1, 2, 9 Zimmerman J.E....Bonini N.M. (1997)
    5. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PubMed id 12500905)1, 2, 9 Fougerousse F....Maire P. (2002)
    6. Dephosphorylation of the C-terminal tyrosyl residue of the DNA damage-related histone H2A.X is mediated by the protein phosphatase eyes absent. (PubMed id 19351884)1, 2 Krishnan N.... Tonks N.K. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. EYA4, a novel vertebrate gene related to Drosophila eyes absent. (PubMed id 9887327)1, 2 Borsani G....Hanson I. (1999)
    10. Transcriptional coactivator Drosophila eyes absent homologue 2 is up- regulated in epithelial ovarian cancer and promotes tumor growth. (PubMed id 15705892)1, 9 Zhang L.... Coukos G. (2005)

    External Searches for EYA2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing EYA2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2139 HGNC: 3520 AceView: EYA2 Ensembl:ENSG00000064655 euGenes: HUgn2139
    ECgene: EYA2 H-InvDB: EYA2

    Other Databases showing EYA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EYA2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EYA2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EYA2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EYA2 gene:
    Search GeneIP for patents involving EYA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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