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EYA4 Gene

protein-coding   GIFtS: 63
GCID: GC06P133563

Eyes Absent Homolog 4 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 4)
(Previous symbols: DFNA10, CMD1J)
  See EYA4-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)
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Aliases
Eyes Absent Homolog 4 (Drosophila)1 2     Eyes Absent (Drosophila) Homolog 41
CMD1J1 2 5     DJ78N10.1 (Eyes Absent)2
DFNA101 2 5     Eyes Absent Homolog 42
EC 3.1.3.483 8     

External Ids:    HGNC: 35221   Entrez Gene: 20702   Ensembl: ENSG000001123197   OMIM: 6035505   UniProtKB: O956773   

Export aliases for EYA4 gene to outside databases

Previous GC identifers: GC06P133185 GC06P133409 GC06P133543 GC06P133604 GC06P131131


(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 EYA4 Gene:
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a
transcriptional activator through its protein phosphatase activity, and it may be important for eye development,
and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual,
progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10
locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants
encoding distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for EYA4 Gene:
EYA4 (eyes absent homolog 4 (Drosophila)) is a protein-coding gene. Diseases associated with EYA4 include eya4-related dilated cardiomyopathy, and cardiomyopathy, dilated, 1j. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA3.

UniProtKB/Swiss-Prot: EYA4_HUMAN, O95677
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. May be involved
in development of the eye (By similarity)

Gene Wiki entry for EYA4 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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EYA4 gene promoter:
         AP-2gamma   CREB   FAC1   PPAR-gamma1   deltaCREB   AP-2beta   PPAR-gamma2   TGIF   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EYA4 promoter sequence
   Search Chromatin IP Primers for EYA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EYA4


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

Entrez Gene cytogenetic band: 6q23   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q23

EYA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EYA4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P133563:  view genomic region     (about GC identifiers)

Start:
133,561,736 bp from pter      End:
133,853,258 bp from pter
Size:
291,523 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: EYA4_HUMAN, O95677 (See protein sequence)
Recommended Name: Eyes absent homolog 4  
Size: 639 amino acids; 69505 Da
Cofactor: Binds 1 Mg(2+) ion per subunit (By similarity)
Secondary accessions: B7Z7F7 O95464 O95679 Q8IW39 Q9NTR7
Alternative splicing: 5 isoforms:  O95677-1   O95677-2   O95677-3   O95677-4   O95677-5   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for EYA4: NX_O95677

Explore proteomics data for EYA4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for EYA4 (O95677) (see all 10)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 


    See EYA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_004091.3  NP_742101.2  NP_742103.1  

    ENSEMBL proteins: 
     ENSP00000395916   ENSP00000388670   ENSP00000356870   ENSP00000347434   ENSP00000432770  
     ENSP00000433219   ENSP00000404558   ENSP00000347294  

    EYA4 Human Recombinant Protein Products:

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    Novus Biologicals EYA4 Protein
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    Cloud-Clone Corp. Proteins for EYA4

     
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    antibodies-online proteins for EYA4 (4 products) 

     
    antibodies-online peptides for EYA4

    EYA4 Antibody Products:

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    antibodies-online kits for EYA4 (6 products) 


    (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

    3 InterPro protein domains:
     IPR028472 EYA_fam
     IPR006545 EYA_dom
     IPR028478 EYA4

    Graphical View of Domain Structure for InterPro Entry O95677

    ProtoNet protein and cluster: O95677

    UniProtKB/Swiss-Prot: EYA4_HUMAN, O95677
    Similarity: Belongs to the HAD-like hydrolase superfamily. EYA family


    Find genes that share domains with EYA4           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: EYA4_HUMAN, O95677
    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. May be involved
    in development of the eye (By similarity)
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for EYA4:
    Drosophila eye absent gene 4 (eya),primarily expressed in the craniofacial mesenchyme,the dermamyotome and the
    limb,not involved in ODD1

         Enzyme Number (IUBMB): EC 3.1.3.481 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with EYA4           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for EYA4:
     Decreased number of cells in m  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Eya4):
     craniofacial  digestive/alimentary  growth/size/body  hearing/vestibular/ear  immune system 
     mortality/aging  reproductive system 

    Find genes that share phenotypes with EYA4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Eya4tm1Jse for EYA4

       genOway: Develop your customized and physiologically relevant rodent model for EYA4

    miRNA
    Products:
        
    miRTarBase miRNAs that target EYA4:
    hsa-mir-122-5p (MIRT023358), hsa-mir-27b-3p (MIRT005754), hsa-mir-224-5p (MIRT005755), hsa-mir-132-3p (MIRT021837), hsa-mir-124-3p (MIRT002568), hsa-mir-181a-5p (MIRT025147), hsa-mir-128-3p (MIRT022072), hsa-mir-203a (MIRT005750), hsa-mir-148b-3p (MIRT019463)

    Block miRNA regulation of human, mouse, rat EYA4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EYA4 (see all 101):
    hsa-miR-15a hsa-miR-128 hsa-miR-3653 hsa-miR-10b* hsa-miR-208b hsa-miR-192* hsa-miR-1266 hsa-miR-27a
    SwitchGear 3'UTR luciferase reporter plasmidEYA4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EYA4

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EYA4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYA4


    (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
    EYA4_HUMAN, O95677: Cytoplasm (By similarity). Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton2
    cytosol2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with EYA4           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 EYA4
    Interactions:

        Search GeneGlobe Interaction Network for EYA4

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

    Selected Interacting proteins for EYA4 (O956773 ENSP000003472944) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIX1Q154753, ENSP000002471824I2D: score=1 STRING: ENSP00000247182
    MAVSQ7Z4343I2D: score=1 
    NLRX1Q86UT63I2D: score=1 
    TMEM173Q86WV63I2D: score=1 
    NFIL3ENSP000002976894STRING: ENSP00000297689
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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:0007275multicellular organismal development ----
    GO:0007601visual perception TAS9887327

    Find genes that share ontologies with EYA4           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EYA4

    1 HMDB Compound for EYA4    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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 EYA4 gene (4 alternative transcripts): 
    NM_004100.4  NM_172103.3  NM_172105.3  NM_172104.1  

    Unigene Cluster for EYA4:

    Eyes absent homolog 4 (Drosophila)
    Hs.596680  [show with all ESTs]
    Unigene Representative Sequence: NM_004100
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000452339 ENST00000430974(uc011ecr.2) ENST00000367895(uc003qec.4 uc003qee.4 uc011ecs.2)
    ENST00000441015 ENST00000355286 ENST00000531901 ENST00000525849 ENST00000531861
    ENST00000431403 ENST00000421413 ENST00000525614 ENST00000497350 ENST00000532518
    ENST00000355167(uc011ecq.2 uc003qed.4)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EYA4 (see all 101):
    hsa-miR-15a hsa-miR-128 hsa-miR-3653 hsa-miR-10b* hsa-miR-208b hsa-miR-192* hsa-miR-1266 hsa-miR-27a
    SwitchGear 3'UTR luciferase reporter plasmidEYA4 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat EYA4
      QuantiFast Probe-based Assays in human, mouse, rat EYA4

    Additional mRNA sequence: 

    AJ007993.1 AJ007994.1 AK295798.1 AK299378.1 AK301950.1 BC014193.2 BC030588.2 BC041063.1 
    Y17114.1 

    5 DOTS entries:

    DT.100748139  DT.100019972  DT.91820791  DT.206520  DT.91965310 

    Selected AceView cDNA sequences (see all 44):

    AI458207 CA436542 BU190635 NM_172103 NM_004100 AW295274 BM992266 AJ007994 
    AJ007993 BX490250 NM_172104 NM_172105 BC030588 CD243814 BE741892 BX500741 
    BX437737 AA176506 BM012784 BE674583 BX099543 BC014193 BC041063 AI126345 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EYA4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:              -     -                                         -                                   -                                                         
    SP2:              -     -                       -                 -                                   -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for EYA4

    (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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    EYA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCATTAAG
    EYA4 Expression
    About this image


    EYA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Inner Cell Mass (Early Embryonic Tissues)
             hIPS1
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    EYA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EYA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596680

    UniProtKB/Swiss-Prot: EYA4_HUMAN, O95677
    Tissue specificity: Highly expressed in heart and skeletal muscle

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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 EYA4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eya41 , 5 eyes absent 4 homolog (Drosophila)1, 5 89.07(n)1
    94.64(a)1
      10 (10.44 cM)5
    140511  NM_010167.41  NP_034297.21 
     231041685 
    chicken
    (Gallus gallus)
    Aves EYA41 eyes absent homolog 4 (Drosophila) 87.12(n)
    93.74(a)
      395716  XM_004935732.1  XP_004935789.1 
    lizard
    (Anolis carolinensis)
    Reptilia EYA46
    eyes absent homolog 4 (Drosophila)
    93(a)
    1 ↔ 1
    GL343200.1(3915031-4042246)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eya41 eyes absent homolog 4 (Drosophila) 80.59(n)
    86.54(a)
      100487615  XM_004914590.1  XP_004914647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eya46
    eyes absent homolog 4 (Drosophila)
    76(a)
    1 ↔ 1
    23(31678289-31751076) ENSDARG00000012397
    fruit fly
    (Drosophila melanogaster)
    Insecta eya3 eye-antennal disc metamorphosis
    hydrolase
    64(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea eya-16
    Protein EYA-1, isoform a (eya-1) mRNA, complete cd...
    24(a)
    1 → many
    I(14220739-14231360) WBGene00001377


    ENSEMBL Gene Tree for EYA4 (if available)
    TreeFam Gene Tree for EYA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EYA4 gene
    EYA32  EYA12  EYA22  
    4 SIMAP similar genes for EYA4 using alignment to 5 protein entries:     EYA4_HUMAN (see all proteins):
    EYA1    Eab1    EYA3    EYA2

    Find genes that share paralogs with EYA4           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 EYA4 (see all 4644)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362494
    A colorectal cancer sample4--see VAR_0362492 D N mis40--------
    VAR_0362484
    A colorectal cancer sample4--see VAR_0362482 L R mis40--------
    rs1427219021,2
    C,Fprobable-non-pathogenic1133851069(+) CACAAC/TATGCC 6 N syn12Minor allele frequency- T:0.01NA EU 5875
    rs2007329421,2
    C--131133739(+) GTGCC-/TTTTTT 3 -- int10--------
    rs339883781,2
    C--131134712(+) GGGTT-/A/AA  
            
    AAAAA
    3 -- int10--------
    rs1125760951,2
    C--131138957(+) TTTTTT/-GTTTG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs344472851,2
    C,F--131138964(+) TTTTTG/TTTTGT 3 -- int12Minor allele frequency- T:0.50NA 4
    rs3907001,2
    C,A--131222177(-) CCGGGA/GAACTG 3 -- int10--------
    rs1427388571,2
    C--131293208(+) TAGCC-/AAAAAA 3 -- int10--------
    rs723186621,2
    C--131405659(+) TGTGA-/GTGT  
            
    GTGTG
    3 -- int10--------

    HapMap Linkage Disequilibrium report for EYA4 (133561736 - 133811736 bp, first 250kb of EYA4)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EYA4 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666193CNV Deletion23128226
    esv2660548CNV Deletion23128226
    esv2668674CNV Deletion23128226
    esv2732720CNV Deletion23290073
    nsv5484CNV Insertion18451855
    esv273095CNV Insertion20981092
    esv268823CNV Insertion20981092
    nsv5485CNV Insertion18451855
    nsv886680CNV Loss21882294
    nsv521665CNV Loss19592680

    Human Gene Mutation Database (HGMD): EYA4
    Locus Specific Mutation Databases (LSDB): EYA4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EYA4
    DNA2.0 Custom Variant and Variant Library Synthesis for EYA4

    (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: 603550   
    OMIM disorders: 601316  605362  
    UniProtKB/Swiss-Prot: EYA4_HUMAN, O95677
  • Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated
    cardiomyopathy in the absence of other anomalies. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 6 diseases for EYA4:    
    About MalaCards
    eya4-related dilated cardiomyopathy    cardiomyopathy, dilated, 1j    dfna10 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 10
    dilated cardiomyopathy    deafness, autosomal dominant 4b

    1 disease from the University of Copenhagen DISEASES database for EYA4:
    Sensorineural hearing loss

    Find genes that share disorders with EYA4           About GenesLikeMe

    GeneTests: EYA4
    GeneReviews: EYA4
    Genetic Association Database (GAD): EYA4
    Human Genome Epidemiology (HuGE) Navigator: EYA4 (2 documents)

    Export disorders for EYA4 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 EYA4 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with EYA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EYA4, a novel vertebrate gene related to Drosophila eyes absent. (PubMed id 9887327)1, 2, 3, 9 Borsani G....Hanson I. (Hum. Mol. Genet. 1999)
    2. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. (PubMed id 11159937)1, 2, 3 Wayne S.... Smith R.J.H. (Hum. Mol. Genet. 2001)
    3. 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)
    4. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    5. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. (PubMed id 15735644)1, 2 Schoenberger J....Seidman C.E. (Nat. Genet. 2005)
    6. 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. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. (PubMed id 12477971)1, 9 Pfister M....Kupka S. (Mol. Med. 2002)
    9. Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis. (PubMed id 19901965)1, 9 Miller S.J....Ratner N. (Oncogene 2010)
    10. A novel splice site mutation in EYA4 causes DFNA10 hearing loss. (PubMed id 17568404)1, 9 Hildebrand M.S....Dahl H.H. (Am. J. Med. Genet. A 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2070 HGNC: 3522 AceView: EYA4 Ensembl:ENSG00000112319 euGenes: HUgn2070
    ECgene: EYA4 H-InvDB: EYA4

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for EYA4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EYA4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EYA4 gene:
    Search GeneIP for patents involving EYA4

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



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