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EYA2 Gene

protein-coding   GIFtS: 57
GCID: GC20P045523

Eyes Absent Homolog 2 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eyes Absent Homolog 2 (Drosophila)1 2
EAB12 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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (eyes absent homolog 2 (Drosophila)) is a protein-coding gene. GO annotations related to this gene include protein tyrosine phosphatase activity and magnesium ion binding. An important paralog of this gene is EYA3.

UniProtKB/Swiss-Prot: EYA2_HUMAN, O00167
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

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 plasmidEYA2 promoter sequence
   Search Chromatin IP Primers for EYA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 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
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;
4 PDB 3D structures from and Proteopedia for EYA2:
3GEB (3D)        3HB0 (3D)        3HB1 (3D)        4EGC (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

Explore proteomics data for EYA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EYA2 (O00167) (see all 10)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 


    See EYA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000333640   ENSP00000349986   ENSP00000417105   ENSP00000321590   ENSP00000395427  

    EYA2 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for EYA2
    Cloud-Clone Corp. Proteins for EYA2

     
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    antibodies-online proteins for EYA2 (4 products) 

     
    antibodies-online peptides for EYA2

    EYA2 Antibody Products:

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    antibodies-online antibodies for EYA2 (48 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTPE: Protein tyrosine phosphatases / Asp-based PTPs

    4 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR028472 EYA_fam
     IPR028473 EYA2
     IPR006545 EYA_dom

    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


    Find genes that share domains with EYA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EYA2_HUMAN, O00167
    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
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA19351884
    GO:0004725protein tyrosine phosphatase activity IDA19351884
    GO:0005515protein binding IPI19497856
         
    Find genes that share ontologies with EYA2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EYA2

    miRNA
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    Selected qRT-PCR 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 plasmidEYA2 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for EYA2 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EYA2_HUMAN, O00167: 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: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytoskeleton1
    cytosol1
    extracellular1
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with EYA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EYA2
    Interactions:

        Search GeneGlobe Interaction Network for EYA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EYA2 (O001672, 3 ENSP000003336404) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-67736 I2D: score=4 STRING: ENSP00000340176
    DMRTB1Q96MA12, 3, ENSP000003605004MINT-66157 I2D: score=3 STRING: ENSP00000360500
    CSNK2BP678703, ENSP000003650254I2D: score=3 STRING: ENSP00000365025
    ENSG00000206406P678703, ENSP000003829844I2D: score=3 STRING: ENSP00000382984
    ENSG00000224398P678703, ENSP000004130924I2D: score=3 STRING: ENSP00000413092
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

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

    Find genes that share ontologies with EYA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EYA2 gene (5 alternative transcripts): 
    NM_005244.4  NM_172110.3  NM_172111.1  NM_172112.1  NM_172113.1  

    Unigene Cluster for EYA2:

    Eyes absent homolog 2 (Drosophila)
    Hs.472877  [show with all ESTs]
    Unigene Representative Sequence: AL833552
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327619(uc002xsm.3 uc002xsq.3) ENST00000357410(uc010ghp.3)
    ENST00000497062 ENST00000497428(uc021wep.1) ENST00000479843 ENST00000471081
    ENST00000317304 ENST00000458636 ENST00000475856
    miRNA
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    Selected qRT-PCR 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
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    Additional mRNA sequence: 

    AF055015.1 AF387364.1 AJ007992.1 AK093582.1 AK293032.1 AL833552.1 AY705349.1 BC000289.2 
    BC008803.2 BC013882.2 BT006682.1 U71207.1 U81601.1 

    9 DOTS entries:

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

    Selected AceView cDNA sequences (see all 125):

    BT006682 AW246028 U69178 BF222576 BC000289 AW069386 BM712376 BC013882 
    AW248831 BQ942725 AY705349 AW139884 CD251922 NM_005244 NM_172113 CA489741 
    AF455149 AA773069 AF455150 BC008803 AW249252 AI866643 CB241724 NM_172110 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EYA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACAGTGC
    EYA2 Expression
    About this image


    EYA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             mK4
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             HyStem+BMP4-induced SK11 cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+BMP4-induced SM30 cells
    EYA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EYA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.472877

    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
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EYA2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eya21 , 5 eyes absent 2 homolog (Drosophila)1, 5 83.65(n)1
    88.91(a)1
      2 (85.83 cM)5
    140491  NM_001271962.11  NP_001258891.11 
     1656552985 
    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
    eyes absent homolog 2 (Drosophila)
    77(a)
    1 ↔ 1
    4(144878066-145042996)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eya21 eyes absent homolog 2 73.92(n)
    79.18(a)
      100037919  NM_001097351.1  NP_001090820.1 
    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-16
    Protein EYA-1, isoform a (eya-1) mRNA, complete cd...
    22(a)
    1 → many
    I(14220739-14231360) WBGene00001377


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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

    Find genes that share paralogs with EYA2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EYA2 (see all 7167)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs741768881,2
    C--42285364(+) CAGACAGGG/-  
            
    AGGTG
    2 -- int11Minor allele frequency- -:0.50NA 2
    rs670579521,2
    C--42288197(+) GAGTCTG/-TGTGA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs105687711,2
    C--42296384(+) AAAAAAAAAAA  
      AAAA
    /-
    GCCCC
    2 -- int11Minor allele frequency- -:0.50NA 2
    rs1421382531,2
    --42300852(+) TTGTG-/CAAAAAA 2 -- int10--------
    rs106933791,2
    C--42301129(+) TTTTT-/T/TT  
            
    GAGGA
    2 -- int11NA 2
    rs1996047721,2
    C--42306060(+) ttcct-/CG/   
      CGTCCC
    tgtcg
    4 -- int1 cds10--------
    rs339775301,2
    C--42316276(+) AAATG-/G/GAG 
            
    AGAAA
    4 -- int1 cds10--------
    rs341889051,2
    C--42326861(+) TTTTTT/-GAGAT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs669387181,2
    C--42342650(+) TGACG-/AGGGGA 2 -- int10--------
    rs11976241,2
    C,A,H--42359675(+) gtaagT/Actctc 2 -- int1 trp31Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for EYA2 (45523263 - 45773263 bp, first 250kb of EYA2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EYA2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668903CNV Deletion23128226
    esv2676598CNV Deletion23128226
    esv2722466CNV Deletion23290073
    esv2421702CNV Deletion20811451
    nsv912906CNV Loss21882294
    nsv828734CNV Loss20364138
    esv33497CNV Loss17666407
    nsv179078CNV Loss16902084
    dgv4572n71CNV Loss21882294
    nsv510788CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EYA2
    DNA2.0 Custom Variant and Variant Library Synthesis for EYA2

    (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.)
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    OMIM gene information: 601654    OMIM disorders: --


    Find genes that share disorders with EYA2           About GenesLikeMe

    Genetic Association Database (GAD): EYA2
    Human Genome Epidemiology (HuGE) Navigator: EYA2 (6 documents)

    Export disorders for EYA2 gene to outside databases

    (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)
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    PubMed articles for EYA2 gene, integrated from 10 sources (see all 44):
    (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. (Nat. Genet. 1997)
    2. Eyes absent: a gene family found in several metazoan phyla. (PubMed id 9195991)1, 2, 9 Duncan M.K....Tomarev S.I. (Mamm. Genome 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. (J. Biol. Chem. 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. (Genome Res. 1997)
    5. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PubMed id 12500905)1, 2, 9 Fougerousse F....Maire P. (J. Muscle Res. Cell Motil. 2002)
    6. Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. (PubMed id 23435380)1, 2 Patrick A.N.... Zhao R. (Nat. Struct. Mol. Biol. 2013)
    7. Eya2 is required to mediate the pro-metastatic functions of Six1 via the induction of TGF-beta signaling, epithelial-mesenchymal transition, and cancer stem cell properties. (PubMed id 21706047)1, 2 Farabaugh S.M.... Ford H.L. (Oncogene 2012)
    8. Crystal structure of ED-Eya2: insight into dual roles as a protein tyrosine phosphatase and a transcription factor. (PubMed id 19858093)1, 2 Jung S.K.... Kim S.J. (FASEB J. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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