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

EYA1 Gene

protein-coding   GIFtS: 62
GCID: GC08M072159

eyes absent homolog 1 (Drosophila)

(Previous name: eyes absent (Drosophila) homolog 1 )
(Previous symbol: BOR)
 Explore 26 diseases affiliated with
EYA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EYA1    

Aliases
for EYA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Eyes Absent Homolog 1 (Drosophila)1 2     BOP2
BOR1 2 5     BOS12
EC 3.1.3.483 8     Eyes Absent Homolog 12
Eyes Absent (Drosophila) Homolog 11     

External Ids:    HGNC: 35191   Entrez Gene: 21382   Ensembl: ENSG000001043137   OMIM: 6016535   UniProtKB: Q995023   

Export aliases for EYA1 gene to outside databases

Previous GC identifers: GC08M071210 GC08M072050 GC08M071832 GC08M072272 GC08M067603


Summaries
for EYA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EYA1:
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the
developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal
dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment
anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three
distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
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. Seems to coactivate SIX2, SIX4 and SIX5. May be required for
normal development of branchial arches, ear and kidney

Gene Wiki entry for EYA1


Genomic Views
for EYA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EYA1 gene promoter:
         S8   Lmo2   HNF-4alpha2   HNF-4alpha1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EYA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EYA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EYA1


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

Entrez Gene cytogenetic band: 8q13.3   Ensembl cytogenetic band:  8q13.3   HGNC cytogenetic band: 8q13.3

EYA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EYA1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M072159:  view genomic region     (about GC identifiers)

Start:
 72,109,668 bp from pter      End:
 72,274,467 bp from pter
Size:
 164,800 bases      Orientation:
 minus strand

Proteins
for EYA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502 (See protein sequence)
Recommended Name: Eyes absent homolog 1  
Size: 592 amino acids; 64593 Da
Cofactor: Binds 1 Mg(2+) ion per subunit (By similarity)
Subunit: Probably interacts with SIX2, SIX4 and SIX5 (By similarity)
Subcellular location: Cytoplasm (By similarity). Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks
(DSBs)
Developmental stage: Detected in cytoplasm of somite cells at the beginning of fourth week of development. Detected in
cytoplasm of limb bud cell between the sixth and eighth week of development
Secondary accessions: A6NHQ0 G5E9R4 Q0P516 Q8WX80
Alternative splicing: 3 isoforms:  Q99502-1   Q99502-2   Q99502-3   

Explore the universe of human proteins at neXtProt for EYA1: NX_Q99502

Post-translational modifications:

  • Sumoylated with SUMO1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99502

    • 4/9 DME Specific Peptides for EYA1 (Q99502) (see all 9)
     LVTTTQL  WDLDETII  PALAKVLL  GKESCFERI 

    EYA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_000494.2  NP_742055.1  NP_742056.1  NP_742057.1  

    ENSEMBL proteins: 
     ENSP00000373394   ENSP00000428391   ENSP00000342626   ENSP00000303221   ENSP00000373393  
     ENSP00000373395   ENSP00000410176   ENSP00000428517   ENSP00000373392  

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    Novus Biologicals EYA1 Protein
    Novus Biologicals EYA1 Lysates
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    Uscn Proteins for EYA1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19497856
    GO:0005737cytoplasm IDA19497856


    EYA1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EYA1

    Protein Domains /
    Families
    for EYA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EYA1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006545 EYA

    Graphical View of Domain Structure for InterPro Entry Q99502

    ProtoNet protein and cluster: Q99502

    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
    Similarity: Belongs to the HAD-like hydrolase superfamily. EYA family


    Function
    for EYA1 gene

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

         UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
    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. Seems to coactivate SIX2, SIX4 and SIX5. May be required for
    normal development of branchial arches, ear and kidney
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for EYA1:
    Drosophila eyes absent gene (eya),homolog 1 with two transcripts,(EYA1A),highly expressed in fetal kidney,adult heart
    and skeletal muscle (4.4 kb isoform) and two more alternatively spliced isoforms differing from EYA1A by their N
    termini

    Enzyme Number (IUBMB): EC 3.1.3.481 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EYA1
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate EYA1 (see all 43):
    hsa-miR-411* hsa-miR-379* hsa-miR-15a hsa-miR-513a-5p hsa-miR-503 hsa-miR-3138 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmid: EYA1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EYA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IDA19234442
    GO:0005515protein binding IPI15141091
    GO:0046872metal ion binding IEA--


    EYA1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for EYA1:
     Decreased DCP1a protein expres  Increased cell number in G1, a  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Eya1tm1Rilm for EYA1
         15/20 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Eya1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  normal 

    EYA1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EYA1 gene

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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EYA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for EYA1 (Q995023 ENSP000003426264) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIX2Q9NPC83, ENSP000003045024I2D: score=2 STRING: ENSP00000304502
    DACH1Q9UI363, ENSP000003527124I2D: score=1 STRING: ENSP00000352712
    H2AFXP161043, ENSP000003643104I2D: score=1 STRING: ENSP00000364310
    SIX3O953433, ENSP000002606534I2D: score=1 STRING: ENSP00000260653
    SIX1Q154753, ENSP000002471824I2D: score=3 STRING: ENSP00000247182
    About this table

    Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation IEA--
    GO:0001656metanephros development IEA--
    GO:0001657ureteric bud development ----
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0003151outflow tract morphogenesis IEA--


    EYA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EYA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EYA1

    3 HMDB Compounds for EYA1    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 EYA1 

    Transcripts
    for EYA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EYA1 gene (4 alternative transcripts): 
    NM_000503.4  NM_172058.2  NM_172059.2  NM_172060.2  

    Unigene Cluster for EYA1:

    Eyes absent homolog 1 (Drosophila)
    Hs.491997  [show with all ESTs]
    Unigene Representative Sequence: NM_000503
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388742(uc003xys.4 uc003xyr.4 uc010lzf.3) ENST00000465115
    ENST00000340726(uc003xyu.3 uc011lfe.2 uc003xyv.3) ENST00000303824
    ENST00000388741 ENST00000388743 ENST00000496494 ENST00000419131 ENST00000493349
    ENST00000422295 ENST00000388740(uc003xyt.4)

    miRNA
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    hsa-miR-411* hsa-miR-379* hsa-miR-15a hsa-miR-513a-5p hsa-miR-503 hsa-miR-3138 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmid: EYA1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF467247.1 AJ000097.1 AJ000098.1 AK127798.1 AK295897.1 AK307379.1 BC121798.1 BC121799.1 

    6 DOTS entries:

    DT.408192  DT.100783554  DT.97835081  DT.101980681  DT.121478704  DT.100688443 

    24/35 AceView cDNA sequences (see all 35):

    NM_000503 CD103918 AF467247 NM_172059 BE328673 NM_172058 N68329 N22283 
    BX331457 BX101134 NM_172060 CB306791 BX951734 BQ223588 AK127798 BU853239 
    BX350798 AW769640 AW204259 BQ003809 BM979759 AJ000098 AJ000097 CD512369 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EYA1    About this scheme

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


    ECgene alternative splicing isoforms for EYA1

    Expression
    for EYA1 gene

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

    EYA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATCGGAGAC

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

    EYA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    LimbForelimb Ventral MusclesMyoblastsSkeletal Muscle
    LimbHindlimb Dorsal MuscleMyoblastsSkeletal Muscle
    LimbHindlimb Ventral MuscleMyoblastsSkeletal Muscle
    KidneyInterstitial StromaInterstitial Stroma CellsKidney
    KidneyInterstitial StromaKidney
    KidneyRenal VesicleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Intermediate mesoderm-like cells (Generation of interm...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Beating cell clusters (Spontaneous differen...)

    See EYA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EYA1

    SOURCE GeneReport for Unigene cluster: Hs.491997

    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
    Tissue specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In
    the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or
    kidney

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    In Situ
    Assay Products:     
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    Orthologs
    for EYA1 gene

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

    Orthologs for EYA1 gene from 9/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Eya11 , 5 eyes absent 1 homolog (Drosophila)1, 5 90.52(n)1
    96.42(a)1    		   1 (4.31 cM)5
    140481  NM_010164.21  NP_034294.21 
     141689585 
    chicken
    (Gallus gallus)    		 Aves EYA11 eyes absent homolog 1 (Drosophila) 86.23(n)
    96.08(a)    		   395718  XM_418290.3  XP_418290.3 
    lizard
    (Anolis carolinensis)    		 Reptilia EYA16
    		 --
    		 95(a)
    		 1 ↔ 1
    		 4(32605341-32698049)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.7792 Xenopus laevis eyes absent-1 alpha mRNA, complete cds less 85.01(n)    AF352029.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii eya12 eyes absent homolog 1 79.6(n)   30436  AF118106.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta eya1 , 3 eye-antennal disc metamorphosis hydrolase3
    eyes absent1    		 64(a)3
    53.88(n)1
    58.99(a)1    		   339161  NM_078768.31  NP_523492.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea eya-16
    		 EYA (Drosophila eyes absent) homolog family member...
    		 24(a)
    		 1 → many
    		 I(14220727-14231331)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EYA1 eyes absent-like protein 45.28(n)
    36.25(a)    		   818099  NM_129084.2  NP_565803.1 
    rice
    (Oryza sativa)    		 Liliopsida Os06g01101001 hypothetical protein 49.09(n)
    40.93(a)    		   4339886  NM_001063115.1  NP_001056580.1 


    ENSEMBL Gene Tree for EYA1 (if available)
    TreeFam Gene Tree for EYA1 (if available) 

    Paralogs
    for EYA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EYA1 gene
    EYA32  EYA42  EYA22  
    4 SIMAP similar genes for EYA1 using alignment to 8 protein entries:     EYA1_HUMAN (see all proteins):
    EYA4    Eab1    EYA2    EYA3

    EYA1 for paralogs           About GeneDecksing



    Genomic Variants
    for EYA1 gene

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

    10/2758 NCBI SNPs in EYA1 are shown (see all 2758)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs736847091,2
    		C,--67602907(+) ATGAAT/CGTGTG 4 -- int12Minor allele frequency- C:0.08WA 120
    rs1839781641,2
    		C,--67604150(+) TGTGGA/GAAGAA 4 -- ut310--------
    rs732843401,2
    		C,--67604477(+) CCAGGC/TATTGC 4 -- ut312Minor allele frequency- T:0.04WA 120
    rs748625741,2
    		C,F,--67604478(+) CAGGCA/GTTGCT 4 -- ut313Minor allele frequency- G:0.31CSA WA 122
    rs772433501,2
    		C,F,--67604494(+) TCAATA/GTCATT 4 -- ut311Minor allele frequency- G:0.04WA 118
    rs797007171,2
    		--67604573(+) ATTGTC/ATCAGT 4 -- ut311Minor allele frequency- A:0.01NA 120
    rs1158213791,2
    		C,--67604749(+) GAATTA/GTACCT 4 -- ut310--------
    rs757787881,2
    		C,--67605908(+) TTTTTG/TTTTTG 4 -- int10--------
    rs343960051,2
    		C,F,--67606108(+) AACCTG/TTTTAA 4 -- int12Minor allele frequency- T:0.50NA 4
    rs2020775351,2
    		C--67607258(-) GGTATA/GTGGAT 4 -- int10--------

    HapMap Linkage Disequilibrium report for EYA1 (72109668 - 72274467 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for EYA1
         11 CNVs: 10259 37998 7704 0979 52612 52611 95495 65163 10260 33046 59490
         4 Indels: 52615 52613 52610 52614
    Human Gene Mutation Database (HGMD): EYA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EYA1
    DNA2.0 Custom Variant and Variant Library Synthesis for EYA1

    Disorders / Diseases
    for EYA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EYA1 for disorders           About GeneDecksing

    OMIM gene information: 601653   
    OMIM disorders: 113650  166780  
    UniProtKB/Swiss-Prot: EYA1_HUMAN, Q99502
  • Defects in EYA1 are the cause of branchiootorenal syndrome type 1 (BOR1) [MIM:113650]; also known as
    • Melnick-Fraser syndrome. BOR is an autosomal dominant disorder manifested by various combinations of preauricular
    pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or
    inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate,
    deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of
    BOR syndrome is high, although expressivity can be extremely variable
  • Defects in EYA1 are the cause of otofaciocervical syndrome (OFCS) [MIM:166780]. The syndrome is characterized
    • by trophic alterations of the facies and shoulder girdle in addition to the malformations seen in BOR
  • Defects in EYA1 are the cause of branchiootic syndrome type 1 (BOS1) [MIM:602588]; also known as BO syndrome
    • type 1 or branchiootic dysplasia. Individuals with BOS1 are affected by the same branchial and otic anomalies as those
    seen in individuals with BOR1, but lack renal anomalies
  • Defects in EYA1 are the cause of anterior segment anomalies with or without cataract (ASA) [MIM:602588]. A
    • disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The
    phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral
    persistence of the pupillary membrane. Some patients have cataract

    20/26 diseases for EYA1 (see all 26):    About MalaCards
    branchiootic syndrome    townes-brocks syndrome    congenital cataracts    cataract
    enlarged vestibular aqueduct    malignant peripheral nerve sheath tumor    anterior segment anomalies and cataract    lacrimal duct obstruction
    branchiootorenal spectrum disorders    branchiootorenal syndrome    otofaciocervical syndrome    laryngomalacia
    branchiootorenal syndrome with cataract    branchiooculofacial syndrome    goldenhar syndrome    renal agenesis
    fraser syndrome    hearing loss    anophthalmia    microphthalmia

    4 diseases from the University of Copenhagen DISEASES database for EYA1:
    Branchiootorenal syndrome     Lacrimal duct obstruction     Branchiooculofacial syndrome     Renal agenesis

    10/12 Novoseek disease relationships for EYA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bor syndrome 99 80 11409867 (4), 17049623 (4), 17364338 (4), 19667416 (3) (see all 38)
    bo syndrome 95.5 10 11683347 (2), 18763178 (2), 9359046 (2), 16813606 (2) (see all 5)
    renal anomaly 93 4 11465802 (1), 10072433 (1), 11734542 (1), 18177466 (1)
    bof syndrome 91 1 10767004 (1)
    ear malformation 85.4 1 11558900 (1)
    branchio-oculo-facial syndrome 84.9 1 10767004 (1)
    townes-brocks syndrome 72.2 1 16971658 (1)
    congenital deafness 52.9 1 12701758 (1)
    congenital cataract 42.7 2 15802522 (1), 10655545 (1)
    fistula 16.9 1 12701758 (1)

    GeneTests: EYA1
    Branchiootorenal Spectrum Disorders

    Human Genome Epidemiology (HuGE) Navigator: EYA1 (3 documents)

    Export disorders for EYA1 gene to outside databases

    Publications
    for EYA1 gene

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

    PubMed articles for EYA1 gene, integrated from 9 sources (see all 111):
    (articles sorted by number of sources associating them with EYA1)    		    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. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. (PubMed id 11409867)1, 2, 9 Rickard S.... Bitner-Glindzicz M. (2001)
    3. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. (PubMed id 9361030)1, 2, 9 Abdelhak S.... Weil D. (1997)
    4. BOR and BO syndromes are allelic defects of EYA1. (PubMed id 9359046)1, 2, 9 Vincent C.... Petit C. (1997)
    5. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. (PubMed id 10655545)1, 2, 9 Azuma N.... Yamada M. (2000)
    6. Point mutation of an EYA1-gene splice site in a patient with oto- facio-cervical syndrome. (PubMed id 16441263)1, 2, 9 Estefania E.... Vilches C. (2006)
    7. Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. (PubMed id 11558900)1, 2, 9 Namba A.... Usami S. (2001)
    8. Mutation of the EYA1 gene in patients with branchio-oto syndrome. (PubMed id 12701758)1, 2, 9 Yashima T....Kitamura K. (2003)
    9. Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. (PubMed id 10464653)1, 2, 9 Kumar S....Kimberling W.J. (1998)
    10. Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. (PubMed id 16691597)1, 2, 9 Spruijt L.... de Die-Smulders C.E.M. (2006)

    External Searches for EYA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing EYA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2138 HGNC: 3519 AceView: EYA1 Ensembl:ENSG00000104313 euGenes: HUgn2138
    ECgene: EYA1 H-InvDB: EYA1

    Other Databases showing EYA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EYA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EYA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA1

    Intellectual Property
    for EYA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EYA1 gene:
    Search GeneIP for patents involving EYA1

    GeneCards and IP:
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