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EYS Gene

protein-coding   GIFtS: 49
GCID: GC06M064430

Eyes Shut Homolog (Drosophila)

(Previous names: chromosome 6 open reading frame 180, EGF-like-domain, multiple...)
(Previous symbols: C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179)
  See EYS-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 Shut Homolog (Drosophila)1 2     Chromosome 6 Open Reading Frame 1781
C6orf1781 2 3     Chromosome 6 Open Reading Frame 1791
C6orf1791 2 3     Chromosome 6 Open Reading Frame 1801
C6orf1801 2 3     Retinitis Pigmentosa 25 (Autosomal Recessive)1
EGFL101 2 3     bA166P24.22
EGFL111 2 3     bA307F22.32
RP251 2 5     bA74E24.12
EGF-Like-Domain, Multiple 101 2     dJ1018A4.22
EGF-Like-Domain, Multiple 111 2     dJ22I17.22
Epidermal Growth Factor-Like Protein 102 3     dJ303F19.12
Epidermal Growth Factor-Like Protein 112 3     Protein Eyes Shut Homolog2
Protein Spacemaker Homolog2 3     EGF-Like Protein 103
SPAM2 3     EGF-Like Protein 113

External Ids:    HGNC: 215551   Entrez Gene: 3460072   Ensembl: ENSG000001881077   OMIM: 6124245   UniProtKB: Q5T1H13   

Export aliases for EYS gene to outside databases

Previous GC identifiers: GC06M066095 GC06M061610


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


Entrez Gene summary for EYS Gene:
The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is
expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis
pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Dec 2008)

GeneCards Summary for EYS Gene:
EYS (eyes shut homolog (Drosophila)) is a protein-coding gene. Diseases associated with EYS include retinitis pigmentosa 25, and eys-related retinitis pigmentosa. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot: EYS_HUMAN, Q5T1H1
Function: Required to maintain the integrity of photoreceptor cells




(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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the EYS gene promoter:
         RP58   AML1a   Sox9   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEYS promoter sequence
   Search Chromatin IP Primers for EYS

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


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

Entrez Gene cytogenetic band: 6q12   Ensembl cytogenetic band:  6q12   HGNC cytogenetic band: 6q12

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M064430:  view genomic region     (about GC identifiers)

Start:
64,429,876 bp from pter      End:
66,417,118 bp from pter
Size:
1,987,243 bases      Orientation:
minus 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, antibodies-online, and/or GeneTex,
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 GeneTex.)
About This Section


UniProtKB/Swiss-Prot: EYS_HUMAN, Q5T1H1 (See protein sequence)
Recommended Name: Protein eyes shut homolog precursor  
Size: 3165 amino acids; 350796 Da
Miscellaneous: Although the protein is conserved in Drosophila, the gene encoding the orthologous protein is
inactive in rodents
Sequence caution: Sequence=CAI13283.2; Type=Erroneous gene model prediction; Sequence=CAX13915.1; Type=Erroneous
gene model prediction; Sequence=CAX14957.1; Type=Erroneous gene model prediction; Sequence=CAX15136.1;
Type=Erroneous gene model prediction; Sequence=CAX15162.1; Type=Erroneous gene model prediction;
Sequence=CAX15163.1; Type=Erroneous gene model prediction; Sequence=CAX15174.1; Type=Erroneous gene model
prediction; Sequence=CAX15210.1; Type=Erroneous gene model prediction; Sequence=CAX15211.1; Type=Erroneous gene
model prediction;
Secondary accessions: A2RUR2 A8MVE7 B7TYK8 B7UUQ3 B7ZBE7 B7ZBE8 B7ZBR3 B9ZVD2 Q5SZM4 Q5T3C8
Q5T669 Q5TEL3 Q5TEL4 Q5VVG4 Q6UY05 Q9H557 Q9NQ15
Alternative splicing: 4 isoforms:  Q5T1H1-3   Q5T1H1-1   Q5T1H1-2   Q5T1H1-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for EYS: NX_Q5T1H1

Explore proteomics data for EYS at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn166, Asn269, Asn272, Asn311, Asn343, Asn506, Asn566, Asn2170, Asn2754
  • Modification sites at PhosphoSitePlus

  • See EYS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136272.1  NP_001136273.1  NP_938024.1  

    ENSEMBL proteins: 
     ENSP00000424243   ENSP00000359655   ENSP00000381585   ENSP00000377042   ENSP00000341818  
     ENSP00000420530   ENSP00000359650   ENSP00000359652  

    EYS Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for EYS
    OriGene Custom MassSpec
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    Novus Biologicals EYS Protein
    Novus Biologicals EYS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for EYS 

     
    Search GeneTex for Proteins for EYS 

     
    antibodies-online proteins for EYS (2 products) 

     
    Search antibodies-online for peptides for EYS

    EYS Antibody Products:

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    Abcam antibodies for EYS
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for EYS

     
    Search GeneTex for Antibodies for EYS 
    antibodies-online antibodies for EYS (2 products) 

    EYS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for EYS 
    antibodies-online kits for EYS (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    Selected InterPro protein domains (see all 9):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q5T1H1

    ProtoNet protein and cluster: Q5T1H1

    1 Blocks protein domain: IPB001881 EGF-like calcium-binding

    UniProtKB/Swiss-Prot: EYS_HUMAN, Q5T1H1
    Similarity: Belongs to the EYS family
    Similarity: Contains 27 EGF-like domains
    Similarity: Contains 5 laminin G-like domains


    Find genes that share domains with EYS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, 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, Clones from OriGene, GenScript, Sino Biological, 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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EYS_HUMAN, Q5T1H1
    Function: Required to maintain the integrity of photoreceptor cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with EYS           About GenesLikeMe


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

        Taconic Biosicences: Generate A Custom CRISPR Mouse Model For Your Study 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for EYS

    miRNA
    Products:
        
    miRTarBase miRNAs that target EYS:
    hsa-mir-124-3p (MIRT023100)

    Block miRNA regulation of human, mouse, rat EYS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate EYS:
    hsa-miR-590-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EYS
    Predesigned siRNA for gene silencing in human, mouse, rat EYS

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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EYS
    Browse ESI BIO Cell Lines and PureStem Progenitors for EYS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    EYS_HUMAN, Q5T1H1: Secreted (Probable). Note=Localizes in the photoreceptor cell layer
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane3
    cytosol1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with EYS           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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EYS
    Interactions:

        Search GeneGlobe Interaction Network for EYS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for EYS (Q5T1H13 ENSP000003596524) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408553I2D: score=2 
    MLH1ENSP000002317904STRING: ENSP00000231790
    CCNE1ENSP000002626434STRING: ENSP00000262643
    CCNE2ENSP000003091814STRING: ENSP00000309181
    EVX1ENSP000004192664STRING: ENSP00000419266
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception ----
    GO:0043403skeletal muscle tissue regeneration IMP--
    GO:0050896response to stimulus ----
    GO:0050908detection of light stimulus involved in visual perception IMP18836446

    Find genes that share ontologies with EYS           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, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EYS



    (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, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for EYS gene (3 alternative transcripts): 
    NM_001142800.1  NM_001142801.1  NM_198283.1  

    Unigene Cluster for EYS:

    Eyes shut homolog (Drosophila)
    Hs.25067  [show with all ESTs]
    Unigene Representative Sequence: FJ416331
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503581(uc011dxt.1 uc011dxu.1) ENST00000370621 ENST00000398580
    ENST00000486069 ENST00000330816 ENST00000370615 ENST00000447127 ENST00000393380(uc003peq.3)
    ENST00000342421(uc003per.1) ENST00000489873 ENST00000471279(uc010kaj.1)
    ENST00000370616 ENST00000370618(uc021zbn.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EYS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate EYS:
    hsa-miR-590-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EYS
    Predesigned siRNA for gene silencing in human, mouse, rat EYS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EYS
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for EYS
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat EYS
      QuantiTect SYBR Green Assays in human, mouse, rat EYS
      QuantiFast Probe-based Assays in human, mouse, rat EYS

    Additional mRNA sequence: 

    AB593112.1 AB593114.1 AK310478.1 AY358133.1 BC133011.1 BC133013.1 BX537914.1 BX647741.1 
    FJ416331.1 FM209056.1 

    7 DOTS entries:

    DT.101979903  DT.97822948  DT.121382379  DT.40110211  DT.121382358  DT.91993806  DT.95114327 

    13 AceView cDNA sequences:

    BM721867 NM_198283 AY358133 CD644478 BU740054 AA922016 BX647741 BX509871 
    BX537914 AA973315 BE079738 AL712101 AW601663 

    GeneLoc Exon Structure


    (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 GenesLikeMe, 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)
    About This Section

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

    EYS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EYS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25067

    UniProtKB/Swiss-Prot: EYS_HUMAN, Q5T1H1
    Tissue specificity: Present in retina

        Custom PCR Arrays for EYS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EYS

    (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 chordates.

    Orthologs for EYS gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia EYS1 eyes shut homolog (Drosophila) 85.85(n)
    76.9(a)
      610772  XM_848323.3  XP_853416.2 
    chicken
    (Gallus gallus)
    Aves LOC1008583201 protein eyes shut homolog 68.36(n)
    61.27(a)
      100858320  XM_003641001.2  XP_003641049.2 
    lizard
    (Anolis carolinensis)
    Reptilia EYS6
    eyes shut homolog (Drosophila)
    66(a)
    1 ↔ 1
    GL343266.1(376161-821359)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018866031 protein eyes shut homolog 57.66(n)
    51.96(a)
      101886603  XM_005157035.1  XP_005157092.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for EYS gene
    EGFLAM2  HSPG22  AGRN2  
    6 SIMAP similar genes for EYS using alignment to 7 protein entries:     EYS_HUMAN (see all proteins):
    AMN1    C19orf47    NOTCH3    CUBN    F9    OK/SW-cl.41

    Find genes that share paralogs with EYS           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for EYS
    PGOHUM00000237157 PGOHUM00000237495


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, 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)
    About This Section


    Selected SNPs for EYS (see all 42791)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119917051,2,,4
    C,FRetinitis pigmentosa 25 (RP25)4 --64460811(+) GGAGGC/TCTTTT 2 T A mis13Minor allele frequency- T:0.00CSA WA EU 713
    rs758315521,2,,4
    C,FRetinitis pigmentosa 25 (RP25)4 --65330104(+) CAAATC/AAGAAT 2 /D /Y mis11Minor allele frequency- A:0.03WA 118
    rs1900093741,2,,4
    CRetinitis pigmentosa 25 (RP25)4 --65332580(+) CCCAAA/TGGAGC 2 I F mis10--------
    rs1433272101,2,,4
    CRetinitis pigmentosa 25 (RP25)4 --65552968(+) CACCAC/GTGTAT 2 T S mis10--------
    rs1424507031,2,,4
    CRetinitis pigmentosa 25 (RP25)4 --66035532(+) GAGGCC/TATGCA 2 S G mis10--------
    VAR_0634884
    Retinitis pigmentosa 25 (RP25)4--see VAR_0634882 C Y mis40--------
    VAR_0634674
    Retinitis pigmentosa 25 (RP25)4--see VAR_0634672 E G mis40--------
    VAR_0644204
    Retinitis pigmentosa 25 (RP25)4--see VAR_0644202 Q E mis40--------
    VAR_0644184
    Retinitis pigmentosa 25 (RP25)4--see VAR_0644182 G V mis40--------
    VAR_0634534
    Retinitis pigmentosa 25 (RP25)4--see VAR_0634532 C R mis40--------

    HapMap Linkage Disequilibrium report for EYS (64429876 - 64679876 bp, first 250kb of EYS)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EYS (see all 156):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1002545CNV Deletion20482838
    esv2673667CNV Deletion23128226
    esv2671661CNV Deletion23128226
    esv2732218CNV Deletion23290073
    esv2678892CNV Deletion23128226
    nsv436501CNV Deletion17901297
    dgv1124e199CNV Deletion23128226
    esv1748560CNV Deletion17803354
    esv2663731CNV Deletion23128226
    esv2732208CNV Deletion23290073

    Human Gene Mutation Database (HGMD): EYS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EYS

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 612424   
    OMIM disorders: 602772  
    UniProtKB/Swiss-Prot: EYS_HUMAN, Q5T1H1
  • Retinitis pigmentosa 25 (RP25) [MIM:602772]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 11 diseases for EYS:    
    About MalaCards
    retinitis pigmentosa 25    eys-related retinitis pigmentosa    retinitis pigmentosa    cone-rod dystrophy
    refsum disease    cone-rod dystrophy 2    retinitis    retinitis pigmentosa autosomal recessive
    cone-rod dystrophy 4    rhyns syndrome    cone-rod dystrophy 9

    1 inferred disease relationship from the University of Copenhagen DISEASES database for EYS:
    Retinitis pigmentosa

    Find genes that share disorders with EYS           About GenesLikeMe

    Genetic Association Database (GAD): EYS
    Human Genome Epidemiology (HuGE) Navigator: EYS (2 documents)

    Export disorders for EYS 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 EYS gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with EYS)

    1. EYS is a major gene for rod-cone dystrophies in France. (PubMed id 20333770)1, 2, 4 Audo I.... Zeitz C. (Hum. Mutat. 2010)
    2. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (PubMed id 18836446)1, 2, 3 Abd El-Aziz M.M.... Antinolo G. (Nat. Genet. 2008)
    3. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. (PubMed id 18976725)1, 2, 3 Collin R.W.J.... Cremers F.P.M. (Am. J. Hum. Genet. 2008)
    4. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. (PubMed id 20696082)1, 2 Huang Y.... Tang Z. (BMC Med. Genet. 2010)
    5. 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)
    6. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. (PubMed id 21069908)1, 2 Barragan I....Antinolo G. (Hum. Mutat. 2010)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    10. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PubMed id 23720494)1 Evans D.M....Whitfield J.B. (Hum. Mol. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 346007 HGNC: 21555 AceView: EGFL11 Ensembl:ENSG00000188107 euGenes: HUgn346007
    ECgene: EYS H-InvDB: EYS

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for EYS 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 EYS gene:
    Search GeneIP for patents involving EYS

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



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