Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

EYA2 Gene

protein-coding   GIFtS: 58
GCID: GC20P045523

Eyes Absent Homolog 2 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with EYA2 include pseudosarcomatous fibromatosis, and fibromatosis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
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 plasmidEYA2 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EYA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005235.3  NP_742108.2  

    ENSEMBL proteins: 
     ENSP00000333640   ENSP00000349986   ENSP00000417105   ENSP00000321590   ENSP00000395427  

    Human Recombinant Protein Products for EYA2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for EYA2
    GenScript Custom Purified and Recombinant Proteins Services for EYA2
    Novus Biologicals EYA2 Proteins
    Novus Biologicals EYA2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for EYA2
    Cloud-Clone Corp. 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



    EYA2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for EYA2
    OriGene Custom Antibody Services for EYA2
    GenScript Custom Superior Antibodies Services for EYA2
    Novus Biologicals EYA2 Antibodies
    Abcam antibodies for EYA2
    Cloud-Clone Corp. Antibodies for EYA2 
    Search ThermoFisher Antibodies for EYA2
    LSBio Antibodies in human, mouse, rat for EYA2 

    Assay Products for EYA2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EYA2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EYA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EYA2 
    Cloud-Clone Corp. CLIAs for EYA2


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

    1 InterPro protein domain:
     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


    EYA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EYA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EYA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EYA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EYA2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EYA2
    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 plasmidEYA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EYA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EYA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EYA2
    Sirion Biotech Customized adenovirus for overexpression of EYA2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EYA2 (see all 9)
    OriGene ORF clones in mouse, rat for EYA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EYA2 (NM_005244)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EYA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EYA2
    Sirion Biotech Customized lentivirus for stable overexpression of EYA2 
                         Customized lentivirus expression plasmids for stable overexpression of EYA2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EYA2
    Search LifeMap BioReagents cell lines for EYA2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA2


    (Pathways according to EMD Millipore, 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 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 Oct 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)

    5/29 Interacting proteins for EYA2 (O001672, 3 ENSP000003336404) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPMSQ930622, 3, ENSP000003401764MINT-67736 I2D: score=4 STRING: ENSP00000340176
    DMRTB1Q96MA12, 3, ENSP000003605004MINT-66157 I2D: score=3 STRING: ENSP00000360500
    CSNK2BP678703I2D: score=3 
    ENSG00000206406P678703I2D: score=3 
    ENSG00000224398P678703I2D: score=3 
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EYA2
    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 plasmidEYA2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EYA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EYA2
    Clone
    Products:
         
    OriGene clones in human, mouse for EYA2 (see all 9)
    OriGene ORF clones in mouse, rat for EYA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EYA2 (NM_005244)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EYA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EYA2
    Sirion Biotech Customized lentivirus for stable overexpression of EYA2 
                         Customized lentivirus expression plasmids for stable overexpression of EYA2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EYA2
    OriGene qSTAR qPCR primer pairs in human, mouse for EYA2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EYA2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EYA2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EYA2

    Additional mRNA 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):

    CD251922 NM_005244 BM712376 BC013882 AF455150 BC008803 NM_172110 AI871842 
    AW955722 AW139884 AF455149 AA773069 NM_172111 AW246094 AW245157 BQ942725 
    AW248831 AW069386 NM_172112 AY705349 NM_172113 BC000289 U69178 BF222576 

    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™, 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)      EYA2 embryonic expression: see
    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 
     5/44 selected tissues (see all 44) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 7 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             skeletal muscle ; myocytes   
     
     Epithelium
             vagina ; squamous epithelial cells   
             esophageal epithelium   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             mK3
             kidney ; cells in tubules   

    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

        SABiosciences Custom PCR Arrays for EYA2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EYA2
    OriGene qSTAR qPCR primer pairs in human, mouse for EYA2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EYA2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EYA2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EYA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA2

    (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 animals.

    Orthologs for EYA2 gene from 6/13 species (see all 13)    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_010165.21  NP_034295.11 
     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)
    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 


    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)
    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



    (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) 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

    10/7167 SNPs in EYA2 are shown (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) 10/14 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

    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601654    OMIM disorders: --

    6 diseases for EYA2:    About MalaCards
    pseudosarcomatous fibromatosis    fibromatosis    fasciitis    malignant peripheral nerve sheath tumor
    microphthalmia    ovarian cancer


    EYA2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for EYA2 gene, integrated from 9 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. (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. 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. (2013)
    7. Eya2 is required to mediate the pro-metastatic functio ns of Six1 via the induction of TGF-b signaling, epithelial-mesenchymal transiti on, and cancer stem cell properties. (PubMed id 21706047)1, 2 Farabaugh S.M....Ford H.L. (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. (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. (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. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2139 HGNC: 3520 AceView: EYA2 Ensembl:ENSG00000064655 euGenes: HUgn2139
    ECgene: EYA2 H-InvDB: EYA2

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for EYA2   OriGene RNAi products in human, mouse, rat for EYA2  
     OriGene qPCR primer pairs and template standards for EYA2   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for EYA2  
     OriGene qSTAR qPCR primer pairs in human, mouse for EYA2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for EYA2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EYA2   OriGene Custom Protein Services for EYA2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EYA2
     QIAGEN SeqTarget long-range PCR primers for resequencing EYA2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EYA2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EYA2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EYA2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EYA2
     GenScript Custom Purified and Recombinant Proteins Services for EYA2 GenScript cDNA clones with any tag delivered in your preferred vector for EYA2
     GenScript Custom Assay Services for EYA2 GenScript Custom Superior Antibodies Services for EYA2
     GenScript Custom overexpressing Cell Line Services for EYA2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in EYA2 promoter
     Search Chromatin IP Primers for EYA2
     RT2 qPCR Primer Assay in human, mouse, rat EYA2
     Search GNC Networks for EYA2
     SABiosciences Custom PCR Arrays for EYA2
     Search Tocris compounds for EYA2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     EYA2 antibodies
     EYA2 proteins
     EYA2 lysates
     Antibodies for EYA2
     See all of Abcam's Antibodies, Kits and Proteins for EYA2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for EYA2




     Proteins for EYA2
     Antibodies for EYA2
     ELISAs for EYA2
     CLIAs for EYA2
     Search LifeMap BioReagents cell lines for EYA2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA2
     SwitchGear 3'UTR luciferase reporter plasmids for EYA2
     SwitchGear Promoter luciferase reporter plasmids for EYA2
     Search ThermoFisher Antibodies for EYA2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EYA2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for EYA2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EYA2
    Customized:
     lentivirus for stable overexpression of EYA2
     lentivirus expression plasmids for stable overexpression of EYA2
     adenovirus for overexpression of EYA2
     LSBio Antibodies in human, mouse, rat for EYA2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EYA2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4