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Aliases for EYS Gene

Aliases for EYS Gene

  • Eyes Shut Homolog (Drosophila) 2 3 5
  • Epidermal Growth Factor-Like Protein 10 3 4
  • Epidermal Growth Factor-Like Protein 11 3 4
  • EGF-Like-Domain, Multiple 11 2 3
  • EGF-Like-Domain, Multiple 10 2 3
  • Protein Spacemaker Homolog 3 4
  • C6orf178 3 4
  • C6orf179 3 4
  • C6orf180 3 4
  • EGFL10 3 4
  • EGFL11 3 4
  • SPAM 3 4
  • Retinitis Pigmentosa 25 (Autosomal Recessive) 2
  • Chromosome 6 Open Reading Frame 180 2
  • Chromosome 6 Open Reading Frame 178 2
  • Chromosome 6 Open Reading Frame 179 2
  • Protein Eyes Shut Homolog 3
  • EGF-Like Protein 10 4
  • EGF-Like Protein 11 4
  • BA166P24.2 3
  • BA307F22.3 3
  • DJ1018A4.2 3
  • DJ303F19.1 3
  • BA74E24.1 3
  • DJ22I17.2 3
  • RP25 3

External Ids for EYS Gene

Previous HGNC Symbols for EYS Gene

  • C6orf180
  • EGFL11
  • RP25
  • EGFL10
  • C6orf178
  • C6orf179

Previous GeneCards Identifiers for EYS Gene

  • GC06M066095
  • GC06M064430
  • GC06M061610

Summaries for EYS Gene

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 HSPG2.

UniProtKB/Swiss-Prot for EYS Gene

  • Required to maintain the integrity of photoreceptor cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYS Gene

Genomics for EYS Gene

Regulatory Elements for EYS Gene

Enhancers for EYS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around EYS on UCSC Golden Path with GeneCards custom track

Genomic Location for EYS Gene

Chromosome:
6
Start:
63,719,980 bp from pter
End:
65,707,225 bp from pter
Size:
1,987,246 bases
Orientation:
Minus strand

Genomic View for EYS Gene

Genes around EYS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EYS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EYS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYS Gene

Proteins for EYS Gene

  • Protein details for EYS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T1H1-EYS_HUMAN
    Recommended name:
    Protein eyes shut homolog
    Protein Accession:
    Q5T1H1
    Secondary Accessions:
    • A2RUR2
    • A8MVE7
    • B7TYK8
    • B7UUQ3
    • B7ZBE7
    • B7ZBE8
    • B7ZBR3
    • B9ZVD2
    • Q5SZM4
    • Q5T3C8
    • Q5T669
    • Q5TEL3
    • Q5TEL4
    • Q5VVG4
    • Q6UY05
    • Q9H557
    • Q9NQ15

    Protein attributes for EYS Gene

    Size:
    3165 amino acids
    Molecular mass:
    350796 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Although the protein is conserved in Drosophila, the gene encoding the orthologous protein is inactive in rodents.
    SequenceCaution:
    • Sequence=CAI13283.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX13915.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX14957.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15136.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15162.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15163.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15174.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15210.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAX15211.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EYS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYS Gene

Post-translational modifications for EYS Gene

  • Glycosylation at Asn 166, Asn 269, Asn 272, Asn 311, Asn 343, Asn 506, Asn 566, and Asn 2170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EYS Gene

Domains & Families for EYS Gene

Suggested Antigen Peptide Sequences for EYS Gene

Graphical View of Domain Structure for InterPro Entry

Q5T1H1

UniProtKB/Swiss-Prot:

EYS_HUMAN :
  • Contains 27 EGF-like domains.
  • Belongs to the EYS family.
Domain:
  • Contains 27 EGF-like domains.
  • Contains 5 laminin G-like domains.
Family:
  • Belongs to the EYS family.
genes like me logo Genes that share domains with EYS: view

No data available for Gene Families for EYS Gene

Function for EYS Gene

Molecular function for EYS Gene

UniProtKB/Swiss-Prot Function:
Required to maintain the integrity of photoreceptor cells.

Gene Ontology (GO) - Molecular Function for EYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EYS: view
genes like me logo Genes that share phenotypes with EYS: view

Human Phenotype Ontology for EYS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EYS Gene

Localization for EYS Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYS Gene

Secreted. Note=Localizes in the photoreceptor cell layer.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EYS Gene COMPARTMENTS Subcellular localization image for EYS gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
endoplasmic reticulum 2
nucleus 1

Gene Ontology (GO) - Cellular Components for EYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with EYS: view

Pathways & Interactions for EYS Gene

SuperPathways for EYS Gene

No Data Available

Gene Ontology (GO) - Biological Process for EYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043403 skeletal muscle tissue regeneration IMP 21826682
GO:0050908 detection of light stimulus involved in visual perception IMP 18836446
genes like me logo Genes that share ontologies with EYS: view

No data available for Pathways by source and SIGNOR curated interactions for EYS Gene

Drugs & Compounds for EYS Gene

No Compound Related Data Available

Transcripts for EYS Gene

mRNA/cDNA for EYS Gene

Unigene Clusters for EYS Gene

Eyes shut homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EYS Gene

No ASD Table

Relevant External Links for EYS Gene

GeneLoc Exon Structure for
EYS
ECgene alternative splicing isoforms for
EYS

Expression for EYS Gene

mRNA expression in normal human tissues for EYS Gene

Protein differential expression in normal tissues from HIPED for EYS Gene

This gene is overexpressed in Cervix (50.7) and Pancreatic juice (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EYS Gene



Protein tissue co-expression partners for EYS Gene

NURSA nuclear receptor signaling pathways regulating expression of EYS Gene:

EYS

SOURCE GeneReport for Unigene cluster for EYS Gene:

Hs.25067

mRNA Expression by UniProt/SwissProt for EYS Gene:

Q5T1H1-EYS_HUMAN
Tissue specificity: Present in retina.
genes like me logo Genes that share expression patterns with EYS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EYS Gene

Orthologs for EYS Gene

This gene was present in the common ancestor of chordates.

Orthologs for EYS Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia EYS 34
  • 85.85 (n)
  • 76.9 (a)
EYS 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 48 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EYS 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858320 34
  • 68.36 (n)
  • 61.27 (a)
EYS 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYS 35
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101886603 34
  • 57.66 (n)
  • 51.96 (a)
EYS 35
  • 53 (a)
OneToOne
Species where no ortholog for EYS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EYS Gene

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

Paralogs for EYS Gene

Paralogs for EYS Gene

(6) SIMAP similar genes for EYS Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for EYS Gene

genes like me logo Genes that share paralogs with EYS: view

Variants for EYS Gene

Sequence variations from dbSNP and Humsavar for EYS Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs12193967 - 65,495,052(+) CTTCC(A/C/G)TTGTG reference, missense
rs9294631 - 64,912,570(+) CACAA(A/G)GGTTA reference, missense
rs111947397 - 65,495,130(+) GAGAT(G/T)GTTCA reference, missense
rs112609906 - 65,495,077(+) GCCAA(C/G/T)GAAAG reference, missense
VAR_063439 -

Structural Variations from Database of Genomic Variants (DGV) for EYS Gene

Variant ID Type Subtype PubMed ID
dgv1048n67 CNV loss 20364138
dgv1049n67 CNV loss 20364138
dgv10717n54 CNV loss 21841781
dgv10718n54 CNV loss 21841781
dgv10719n54 CNV gain+loss 21841781
dgv10720n54 CNV loss 21841781
dgv10721n54 CNV loss 21841781
dgv10722n54 CNV loss 21841781
dgv10723n54 CNV loss 21841781
dgv10724n54 CNV loss 21841781
dgv10725n54 CNV loss 21841781
dgv10726n54 CNV loss 21841781
dgv10727n54 CNV loss 21841781
dgv10728n54 CNV loss 21841781
dgv10729n54 CNV loss 21841781
dgv10730n54 CNV loss 21841781
dgv10731n54 CNV loss 21841781
dgv10732n54 CNV loss 21841781
dgv1124e199 CNV deletion 23128226
dgv1125e199 CNV deletion 23128226
dgv1126e199 CNV deletion 23128226
dgv1785e212 CNV loss 25503493
dgv1786e212 CNV loss 25503493
dgv1787e212 CNV loss 25503493
dgv1788e212 CNV loss 25503493
dgv1789e212 CNV loss 25503493
dgv1790e212 CNV loss 25503493
dgv1791e212 CNV loss 25503493
dgv1792e212 CNV loss 25503493
dgv179n73 CNV deletion 24416366
dgv223n6 CNV deletion 16902084
dgv224n111 CNV deletion 26073780
dgv225n111 CNV deletion 26073780
dgv3337n106 CNV deletion 24896259
dgv392e215 CNV deletion 23714750
dgv393e215 CNV deletion 23714750
dgv5996n100 CNV loss 25217958
dgv5997n100 CNV loss 25217958
dgv5998n100 CNV loss 25217958
dgv5999n100 CNV loss 25217958
dgv6000n100 CNV loss 25217958
dgv6001n100 CNV loss 25217958
dgv6002n100 CNV loss 25217958
dgv756n27 CNV loss 19166990
dgv757n27 CNV loss 19166990
esv1002545 CNV deletion 20482838
esv1003481 CNV gain 20482838
esv1005863 CNV deletion 20482838
esv1011340 CNV deletion 20482838
esv1031312 CNV deletion 17803354
esv1215147 CNV deletion 17803354
esv1465574 CNV deletion 17803354
esv1591369 CNV insertion 17803354
esv1637717 CNV deletion 17803354
esv1722623 CNV insertion 17803354
esv1748560 CNV deletion 17803354
esv2190774 CNV deletion 18987734
esv2214118 CNV deletion 18987734
esv22660 CNV loss 19812545
esv23142 CNV loss 19812545
esv23889 CNV loss 19812545
esv2421564 CNV deletion 20811451
esv2422086 CNV deletion 20811451
esv24529 CNV loss 19812545
esv2466331 CNV loss 19546169
esv24902 CNV loss 19812545
esv25071 CNV loss 19812545
esv2576083 CNV deletion 19546169
esv2662925 CNV deletion 23128226
esv2663731 CNV deletion 23128226
esv2667038 CNV deletion 23128226
esv2667605 CNV deletion 23128226
esv2671661 CNV deletion 23128226
esv2673394 CNV deletion 23128226
esv2673667 CNV deletion 23128226
esv2673919 CNV deletion 23128226
esv2674250 CNV deletion 23128226
esv2674614 CNV deletion 23128226
esv2678892 CNV deletion 23128226
esv26838 CNV loss 19812545
esv2732203 CNV deletion 23290073
esv2732204 CNV deletion 23290073
esv2732205 CNV deletion 23290073
esv2732207 CNV deletion 23290073
esv2732208 CNV deletion 23290073
esv2732209 CNV deletion 23290073
esv2732210 CNV deletion 23290073
esv2732211 CNV deletion 23290073
esv2732212 CNV deletion 23290073
esv2732213 CNV deletion 23290073
esv2732214 CNV deletion 23290073
esv2732215 CNV deletion 23290073
esv2732216 CNV deletion 23290073
esv2732218 CNV deletion 23290073
esv2732219 CNV deletion 23290073
esv2759435 CNV loss 17122850
esv2761015 CNV loss 21179565
esv2761024 CNV loss 21179565
esv2763557 CNV gain 21179565
esv2763558 CNV loss 21179565
esv2763559 CNV loss 21179565
esv2763978 CNV loss 21179565
esv2763981 CNV loss 21179565
esv28555 CNV loss 19812545
esv3085878 CNV deletion 24192839
esv3285718 CNV deletion 24192839
esv3304491 CNV mobile element insertion 20981092
esv3307233 CNV mobile element insertion 20981092
esv3307737 CNV mobile element insertion 20981092
esv3310504 CNV novel sequence insertion 20981092
esv3324652 CNV insertion 20981092
esv3336822 CNV insertion 20981092
esv3364150 CNV duplication 20981092
esv33692 CNV loss 17666407
esv3373831 CNV insertion 20981092
esv3380283 CNV insertion 20981092
esv3392614 CNV duplication 20981092
esv3393292 CNV insertion 20981092
esv3394784 CNV insertion 20981092
esv3407187 CNV insertion 20981092
esv3407758 CNV insertion 20981092
esv3411788 CNV insertion 20981092
esv3441783 CNV insertion 20981092
esv3510 CNV loss 18987735
esv3539855 CNV deletion 23714750
esv3539858 CNV deletion 23714750
esv3539860 CNV deletion 23714750
esv3539865 CNV deletion 23714750
esv3539866 CNV deletion 23714750
esv3539870 CNV deletion 23714750
esv3539873 CNV deletion 23714750
esv3571115 CNV loss 25503493
esv3571117 CNV loss 25503493
esv3571118 CNV loss 25503493
esv3571123 CNV loss 25503493
esv3571133 CNV loss 25503493
esv3571134 CNV loss 25503493
esv3571135 CNV loss 25503493
esv3571138 CNV loss 25503493
esv3576169 CNV gain 25503493
esv3576170 CNV gain 25503493
esv3584534 CNV gain 24956385
esv3584846 CNV loss 24956385
esv3584847 CNV loss 24956385
esv3609266 CNV loss 21293372
esv3609268 CNV loss 21293372
esv3609269 CNV loss 21293372
esv3609270 CNV loss 21293372
esv3609271 CNV loss 21293372
esv3609272 CNV loss 21293372
esv3609273 CNV loss 21293372
esv3609274 CNV loss 21293372
esv3609276 CNV loss 21293372
esv3609277 CNV loss 21293372
esv3609279 CNV gain 21293372
esv3609284 CNV loss 21293372
esv3609288 CNV loss 21293372
esv3609289 CNV loss 21293372
esv3609290 CNV loss 21293372
esv3609291 CNV loss 21293372
esv3609292 CNV loss 21293372
esv3609293 CNV gain 21293372
esv3609294 CNV gain 21293372
esv3609295 CNV loss 21293372
esv3609296 CNV gain 21293372
esv3609298 CNV loss 21293372
esv3609299 CNV loss 21293372
esv3609303 CNV gain 21293372
esv3609304 CNV loss 21293372
esv3609306 CNV loss 21293372
esv3890864 CNV loss 25118596
esv3890865 CNV loss 25118596
esv3890866 CNV gain 25118596
esv3890867 CNV loss 25118596
esv3890868 CNV loss 25118596
esv3970 CNV loss 18987735
esv5426 CNV loss 18987735
esv5470 CNV gain 19470904
esv6318 CNV loss 19470904
esv990348 CNV deletion 20482838
esv991948 CNV insertion 20482838
nsv1015989 CNV gain 25217958
nsv1017799 CNV loss 25217958
nsv1018075 CNV loss 25217958
nsv1018676 CNV loss 25217958
nsv1018678 CNV gain 25217958
nsv1023406 CNV loss 25217958
nsv1024973 CNV loss 25217958
nsv1025270 CNV gain 25217958
nsv1025681 CNV loss 25217958
nsv1026300 CNV loss 25217958
nsv1028399 CNV loss 25217958
nsv1029949 CNV gain+loss 25217958
nsv1034230 CNV loss 25217958
nsv1073565 CNV deletion 25765185
nsv1073566 CNV deletion 25765185
nsv1073567 CNV deletion 25765185
nsv1073987 CNV deletion 25765185
nsv1078002 CNV duplication 25765185
nsv1109791 CNV deletion 24896259
nsv1117638 CNV deletion 24896259
nsv1124084 CNV deletion 24896259
nsv1124086 CNV deletion 24896259
nsv1125878 CNV tandem duplication 24896259
nsv1128251 CNV deletion 24896259
nsv1133378 CNV tandem duplication 24896259
nsv1137104 CNV deletion 24896259
nsv1137105 CNV deletion 24896259
nsv1142466 CNV tandem duplication 24896259
nsv1143152 CNV tandem duplication 24896259
nsv1146312 CNV deletion 26484159
nsv1146911 CNV deletion 26484159
nsv1147410 CNV deletion 26484159
nsv1161387 OTHER complex 26073780
nsv1161388 CNV deletion 26073780
nsv1161392 CNV deletion 26073780
nsv1161394 CNV deletion 26073780
nsv1161399 CNV deletion 26073780
nsv1161403 CNV deletion 26073780
nsv348880 CNV deletion 16902084
nsv436501 CNV deletion 17901297
nsv436998 CNV loss 16327808
nsv442983 CNV loss 18776908
nsv442984 CNV loss 18776908
nsv462968 CNV loss 19166990
nsv462971 CNV gain 19166990
nsv462972 CNV loss 19166990
nsv462976 CNV loss 19166990
nsv462977 CNV gain 19166990
nsv462980 CNV loss 19166990
nsv462983 CNV loss 19166990
nsv462989 CNV loss 19166990
nsv470822 CNV loss 18288195
nsv470823 CNV loss 18288195
nsv470824 CNV loss 18288195
nsv470825 CNV gain 18288195
nsv473733 CNV novel sequence insertion 20440878
nsv474337 CNV novel sequence insertion 20440878
nsv476196 CNV novel sequence insertion 20440878
nsv477703 CNV novel sequence insertion 20440878
nsv478758 CNV novel sequence insertion 20440878
nsv481359 CNV novel sequence insertion 20440878
nsv499459 CNV gain 21111241
nsv499480 CNV loss 21111241
nsv507334 OTHER sequence alteration 20534489
nsv508410 CNV deletion 20534489
nsv508411 CNV deletion 20534489
nsv510901 OTHER complex 20534489
nsv511891 CNV loss 21212237
nsv511892 CNV loss 21212237
nsv511893 CNV loss 21212237
nsv512882 CNV insertion 21212237
nsv512883 CNV insertion 21212237
nsv514364 CNV loss 21397061
nsv514365 CNV loss 21397061
nsv515733 CNV loss 19592680
nsv516274 CNV loss 19592680
nsv516417 CNV loss 19592680
nsv520449 CNV loss 19592680
nsv521670 CNV loss 19592680
nsv524118 CNV loss 19592680
nsv524573 CNV loss 19592680
nsv528039 CNV gain 19592680
nsv5327 CNV insertion 18451855
nsv5328 CNV deletion 18451855
nsv5329 CNV deletion 18451855
nsv603376 CNV gain 21841781
nsv603379 CNV loss 21841781
nsv603381 CNV gain+loss 21841781
nsv603389 CNV loss 21841781
nsv603390 CNV loss 21841781
nsv603391 CNV loss 21841781
nsv603392 CNV loss 21841781
nsv603393 CNV gain 21841781
nsv603394 CNV loss 21841781
nsv603395 CNV loss 21841781
nsv603396 CNV loss 21841781
nsv603397 CNV gain 21841781
nsv603398 CNV loss 21841781
nsv603399 CNV loss 21841781
nsv603402 CNV loss 21841781
nsv603403 CNV gain 21841781
nsv603404 CNV loss 21841781
nsv603405 CNV gain 21841781
nsv603406 CNV loss 21841781
nsv603407 CNV loss 21841781
nsv603421 CNV loss 21841781
nsv603430 CNV loss 21841781
nsv603433 CNV loss 21841781
nsv603438 CNV loss 21841781
nsv603439 CNV loss 21841781
nsv603442 CNV loss 21841781
nsv603447 CNV loss 21841781
nsv603448 CNV loss 21841781
nsv603455 CNV loss 21841781
nsv603458 CNV loss 21841781
nsv603459 CNV loss 21841781
nsv603470 CNV loss 21841781
nsv7910 CNV loss 18304495
nsv818421 CNV gain 17921354
nsv818423 CNV gain 17921354
nsv819529 CNV loss 19587683
nsv819675 CNV loss 19587683
nsv820016 CNV loss 19587683
nsv820168 CNV loss 19587683
nsv823707 CNV loss 20364138
nsv823708 CNV loss 20364138
nsv823712 CNV loss 20364138
nsv823713 CNV gain 20364138
nsv830674 CNV gain+loss 17160897
nsv830675 CNV gain 17160897
nsv955898 CNV deletion 24416366
nsv956557 CNV deletion 24416366
nsv956959 CNV deletion 24416366
nsv957539 CNV deletion 24416366
nsv958350 CNV deletion 24416366
nsv958385 CNV deletion 24416366
nsv969416 CNV duplication 23825009
nsv981155 CNV duplication 23825009

Variation tolerance for EYS Gene

Gene Damage Index Score: 20.95; 99.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EYS Gene

Human Gene Mutation Database (HGMD)
EYS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EYS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYS Gene

Disorders for EYS Gene

MalaCards: The human disease database

(14) MalaCards diseases for EYS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 25
  • rp25
eys-related retinitis pigmentosa
  • retinitis pigmentosa 25
fundus dystrophy
  • retinal dystrophy
retinitis pigmentosa
  • retinitis pigmentosa 1
refsum disease
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards
Search EYS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EYS_HUMAN
  • 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. {ECO:0000269 PubMed:18836446, ECO:0000269 PubMed:18976725, ECO:0000269 PubMed:20333770, ECO:0000269 PubMed:20696082, ECO:0000269 PubMed:21069908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EYS

Genetic Association Database (GAD)
EYS
Human Genome Epidemiology (HuGE) Navigator
EYS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYS
genes like me logo Genes that share disorders with EYS: view

No data available for Genatlas for EYS Gene

Publications for EYS Gene

  1. EYS is a major gene for rod-cone dystrophies in France. (PMID: 20333770) Audo I. … Zeitz C. (Hum. Mutat. 2010) 3 4 46 65
  2. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. (PMID: 18836446) Abd El-Aziz M.M. … Antinolo G. (Nat. Genet. 2008) 2 3 4 65
  3. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. (PMID: 18976725) Collin R.W.J. … Cremers F.P.M. (Am. J. Hum. Genet. 2008) 2 3 4 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  5. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. (PMID: 20696082) Huang Y. … Tang Z. (BMC Med. Genet. 2010) 3 4 65

Products for EYS Gene

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